ClinGen Mendelian Disease Genes

Bottom line: ClinGen's Gene–Disease Validity curations grade the evidence
that a gene causes an inherited disease. We seeded a review campaign from the
2026-09-25 export: every gene with at least one Definitive, Strong, Moderate or
Limited association, 2,876 genes in all (2,836 nuclear Mendelian, 37
mitochondrial, 3 undetermined-inheritance follow-ups), each with its disease
links preserved in the checklist below. Each review assesses the gene product's
molecular function and GO annotations; a disease link alone does not establish
a function. Reviews run one gene per PR in evidence-priority order, and existing
reviews get a fresh audit (747 of the 2,876 genes had a human review in the
repo on 2026-09-27, mostly from earlier projects). The 2026-09-26 progress log records 14
merged gene PRs (A4GALT through ACADVL; 607 annotations reviewed), each ticked
in the checklist below; later merges are added there as they are recorded.

Overview

Seed a human gene-function review project from ClinGen's published Gene–Disease
Validity curations. Review the molecular functions, cellular roles, and GO
annotations of these gene products; disease association alone does not establish
a GO molecular function or participation in a biological process.

Source and scope

Source: ClinGen Gene–Disease Validity download, linked from the
official downloads page.
Snapshot file date and retrieval date: 2026-09-25.
Archived, unmodified source: ClinGen CSV.
SHA-256: e0958b8e22f06e51904c13c449fc75530c1df66c169899730c7cebb483c5e5b3.
Select every gene with at least one Definitive, Strong, Moderate, or Limited
association. Limited associations are candidates, not established causation.
Deduplicate by HGNC ID and normalize to approved symbols using the
HGNC complete set; the
archived HGNC subset records the mappings,
retrieval timestamp, and full-download checksum. Preserve every
qualifying disease, inheritance mode, classification, and report link below.
Disputed, Refuted, and No Known Disease Relationship rows do not qualify a
gene. A gene with another positive association remains included; its presence
does not endorse its excluded associations. All rows remain in the CSV.
The main Mendelian list uses AD, AR, XL, or SD inheritance. Mitochondrial
genes are included separately for comprehensive inherited-disease coverage;
mitochondrial inheritance is not classical Mendelian inheritance.
Genes supported only by undetermined inheritance are a separate follow-up
list, not confirmed Mendelian genes. Individual UD associations on otherwise
included genes are also explicitly labeled.
This is the complete positive set within this ClinGen export, not a census
of every Mendelian disease gene. Dosage Sensitivity, Clinical Actionability,
and ClinVar variant assertions are not substituted for Gene–Disease Validity.

Seed summary

Measure	Count
Source curations	3679
Source unique genes (HGNC IDs)	3038
Included positive associations	3385
Total genes in this project, including follow-up lists	2876
Nuclear Mendelian genes (AD / AR / XL / SD)	2836
Additional mitochondrial genes	37
Additional genes with undetermined inheritance only	3
HGNC protein-coding genes (across all inheritance groups)	2837
Non-coding RNA genes (separate workflow)	35
Other HGNC locus types (separate identifier triage)	4

ClinGen classification	Source associations	Genes whose strongest positive association is this level
Definitive	2295	2086
Strong	84	70
Moderate	457	349
Limited	549	371
Disputed	197	Excluded
Refuted	49	Excluded
No Known Disease Relationship	48	Excluded

The classification table counts all genes, including mitochondrial and
undetermined inheritance. Inheritance-group and locus-group counts are two
different partitions of the same inventory. Each individual association retains
its own classification in the checklist. RNA and other locus types have separate
checklist sections, so nuclear protein-coding headings exclude those genes.

Status

Gene reviews are proceeding in evidence-priority order, alphabetically within
each tier. Track assignments, validation, and per-gene PRs in the
review progress log.

[x] Acquire and archive ClinGen source data.
[x] Seed the complete gene inventory and preserve association provenance.
[ ] Triage existing human reviews and prioritize new reviews by evidence level.
[ ] Fetch missing gene records, research, review annotations, and validate.

All gene checkboxes start unchecked: they track assessment for this project,
not whether a review happens to exist elsewhere in the repository. The seed step
does not fetch or complete thousands of individual gene reviews. The 35
RNA genes remain in scope and use RNA-specific identifiers, sequences, and
functional literature rather than UniProt-dependent fetching. The 4
other HGNC loci (readthrough or immune-receptor genes) require identifier/product
triage; an HGNC group of "other" does not imply absence of a protein product.

Reproducing the seed

The seed script uses only Python's standard library:

python3 projects/CLINGEN_MENDELIAN/seed_project.py > /tmp/CLINGEN_MENDELIAN.md
diff -u projects/CLINGEN_MENDELIAN.md /tmp/CLINGEN_MENDELIAN.md

It generates a fresh seed from the archived CSV and HGNC subset, including locus
types. Differences in maturity, campaign status, progress links, checkbox states,
and notes are expected once the campaign starts. Compare before replacing the
project so that authored campaign state is preserved. For a future
refresh, download the official CSV again, record its actual retrieval date,
inspect membership changes, and add a new project history record.

Gene checklist

AD = autosomal dominant; AR = autosomal recessive; XL = X-linked;
SD = semidominant; MT = mitochondrial; UD = undetermined.
Each linked disease opens its ClinGen evidence report. Parentheses give the
MONDO ID, inheritance mode, and association-specific evidence classification.

Nuclear Mendelian protein-coding genes: Definitive (2054 genes)

[x] A4GALT — HGNC:18149; A4GALT-congenital disorder of glycosylation (MONDO:0100587; AR; Definitive).
[x] AARS1 — HGNC:20; AARS1-related leukoencephalopathy (MONDO:1010132; AD; Limited); Charcot-Marie-Tooth disease axonal type 2N (MONDO:0013212; AD; Definitive); developmental and epileptic encephalopathy, 29 (MONDO:0014593; AR; Definitive).
[x] AARS2 — HGNC:21022; mitochondrial disease (MONDO:0044970; AR; Definitive).
[x] AASS — HGNC:17366; hyperlysinemia (MONDO:0009388; AR; Definitive).
[x] ABCA3 — HGNC:33; interstitial lung disease due to ABCA3 deficiency (MONDO:0012582; AR; Definitive).
[x] ABCA4 — HGNC:34; ABCA4-related retinopathy (MONDO:0800406; AR; Definitive).
[x] ABCB4 — HGNC:45; progressive familial intrahepatic cholestasis type 3 (MONDO:0011214; AR; Definitive).
[x] ABCC6 — HGNC:57; inherited pseudoxanthoma elasticum (MONDO:0100091; SD; Definitive).
[ ] ABCC8 — HGNC:59; hyperinsulinemic hypoglycemia, familial, 1 (MONDO:0009734; AR; Definitive); hyperinsulinism (MONDO:0002177; AD; Definitive); monogenic diabetes (MONDO:0015967; SD; Definitive); pulmonary arterial hypertension (MONDO:0015924; AD; Moderate).
[x] ABCC9 — HGNC:60; dilated cardiomyopathy 1O (MONDO:0012062; AD; Limited); hypertrichotic osteochondrodysplasia Cantu type (MONDO:0009406; AD; Definitive).
[ ] ABCD1 — HGNC:61; adrenoleukodystrophy (MONDO:0018544; XL; Definitive).
[ ] ABCG5 — HGNC:13886; sitosterolemia (MONDO:0008863; AR; Definitive).
[ ] ABCG8 — HGNC:13887; sitosterolemia (MONDO:0008863; AR; Definitive).
[ ] ABHD12 — HGNC:15868; PHARC syndrome (MONDO:0012984; AR; Definitive).
[ ] ABHD5 — HGNC:21396; Dorfman-Chanarin disease (MONDO:0010155; AR; Definitive).
[x] ACAD8 — HGNC:87; isobutyryl-CoA dehydrogenase deficiency (MONDO:0012648; AR; Definitive).
[x] ACAD9 — HGNC:21497; acyl-CoA dehydrogenase 9 deficiency (MONDO:0012624; AR; Definitive).
[ ] ACADM — HGNC:89; medium chain acyl-CoA dehydrogenase deficiency (MONDO:0008721; AR; Definitive).
[x] ACADS — HGNC:90; short chain acyl-CoA dehydrogenase deficiency (MONDO:0008722; AR; Definitive).
[x] ACADSB — HGNC:91; 2-methylbutyryl-CoA dehydrogenase deficiency (MONDO:0012392; AR; Definitive).
[x] ACADVL — HGNC:92; very long chain acyl-CoA dehydrogenase deficiency (MONDO:0008723; AR; Definitive).
[ ] ACAN — HGNC:319; ACAN-related short stature spectrum (MONDO:1060149; AD; Definitive).
[ ] ACAT1 — HGNC:93; beta-ketothiolase deficiency (MONDO:0008760; AR; Definitive).
[ ] ACBD5 — HGNC:23338; acyl-CoA binding domain containing protein 5 deficiency (MONDO:0100112; AR; Definitive).
[ ] ACD — HGNC:25070; ACD-related short telomere syndrome (MONDO:0100569; SD; Definitive).
[ ] ACE — HGNC:2707; renal tubular dysgenesis - ACE (MONDO:0700337; AR; Definitive).
[ ] ACO2 — HGNC:118; mitochondrial disease (MONDO:0044970; AD; Strong); mitochondrial disease (MONDO:0044970; AR; Definitive); optic atrophy 9 (MONDO:0014571; SD; Definitive).
[ ] ACOX1 — HGNC:119; Mitchell syndrome (MONDO:0030073; AD; Definitive); peroxisomal acyl-CoA oxidase deficiency (MONDO:0009919; AR; Definitive).
[ ] ACOX2 — HGNC:120; congenital bile acid synthesis defect 6 (MONDO:0015015; AR; Definitive).
[ ] ACSF3 — HGNC:27288; combined malonic and methylmalonic acidemia (MONDO:0013661; AR; Definitive).
[ ] ACSL4 — HGNC:3571; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Definitive).
[ ] ACTA1 — HGNC:129; alpha-actinopathy (MONDO:0100084; AD; Definitive); alpha-actinopathy (MONDO:0100084; AR; Definitive).
[ ] ACTA2 — HGNC:130; multisystemic smooth muscle dysfunction syndrome (MONDO:0013452; AD; Definitive).
[ ] ACTB — HGNC:132; ACTB-associated syndromic thrombocytopenia (MONDO:0100433; AD; Moderate); Baraitser-Winter cerebrofrontofacial syndrome (MONDO:0017579; AD; Definitive).
[ ] ACTC1 — HGNC:143; dilated cardiomyopathy 1R (MONDO:0013261; AD; Moderate); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] ACTG1 — HGNC:144; Baraitser-winter syndrome 2 (MONDO:0013812; AD; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] ACTN1 — HGNC:163; platelet-type bleeding disorder 15 (MONDO:0014078; AD; Definitive).
[ ] ACTN2 — HGNC:164; ACTN2-related cardiac and skeletal myopathy (MONDO:0700349; AD; Definitive).
[ ] ACVR1 — HGNC:171; congenital heart disease (MONDO:0005453; AD; Limited); fibrodysplasia ossificans progressiva (MONDO:0007606; AD; Definitive).
[ ] ACVRL1 — HGNC:175; telangiectasia, hereditary hemorrhagic, type 2 (MONDO:0010880; AD; Definitive).
[ ] ACY1 — HGNC:177; aminoacylase 1 deficiency (MONDO:0012368; AR; Definitive).
[ ] ADA — HGNC:186; severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency (MONDO:0007064; AR; Definitive).
[ ] ADA2 — HGNC:1839; obsolete deficiency of adenosine deaminase 2 (MONDO:0100317; AR; Definitive).
[ ] ADAM17 — HGNC:195; congenital heart disease (MONDO:0005453; AD; Limited); inflammatory skin and bowel disease, neonatal, 1 (MONDO:0013693; AR; Definitive).
[ ] ADAM22 — HGNC:201; developmental and epileptic encephalopathy (MONDO:0100620; AR; Definitive).
[ ] ADAM9 — HGNC:216; ADAM9-related retinopathy (MONDO:0800398; AR; Definitive).
[ ] ADAMTS13 — HGNC:1366; congenital thrombotic thrombocytopenic purpura (MONDO:0010122; AR; Definitive).
[ ] ADAMTS18 — HGNC:17110; microcornea-myopic chorioretinal atrophy (MONDO:0014195; AR; Definitive).
[ ] ADAR — HGNC:225; ADAR-related type 1 interferonopathy (MONDO:0700261; AD; Definitive); ADAR-related type 1 interferonopathy (MONDO:0700261; AR; Definitive); Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] ADCY5 — HGNC:236; dyskinesia with orofacial involvement (MONDO:0031115; SD; Definitive).
[ ] ADGRG1 — HGNC:4512; bilateral frontoparietal polymicrogyria (MONDO:0011738; AR; Definitive).
[ ] ADGRL1 — HGNC:20973; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ADGRV1 — HGNC:17416; Usher syndrome type 2 (MONDO:0016484; AR; Definitive).
[ ] ADK — HGNC:257; adenosine kinase deficiency (MONDO:0100255; AR; Definitive).
[ ] ADNP — HGNC:15766; ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder (MONDO:0014379; AD; Definitive).
[ ] ADSL — HGNC:291; adenylosuccinate lyase deficiency (MONDO:0007068; AR; Definitive).
[ ] AFF2 — HGNC:3776; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Definitive).
[ ] AFG2A — HGNC:18119; syndromic complex neurodevelopmental disorder (MONDO:0800439; AR; Definitive).
[ ] AFG3L2 — HGNC:315; AFG3L2-related optic atrophy and/or spastic ataxia spectrum (MONDO:0700372; SD; Definitive).
[ ] AGA — HGNC:318; aspartylglucosaminuria (MONDO:0008830; AR; Definitive).
[ ] AGBL5 — HGNC:26147; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] AGK — HGNC:21869; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] AGL — HGNC:321; glycogen storage disease III (MONDO:0009291; AR; Definitive).
[ ] AGO1 — HGNC:3262; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] AGO2 — HGNC:3263; Lessel-Kreienkamp syndrome (MONDO:0030897; AD; Definitive).
[ ] AGPAT2 — HGNC:325; lipodystrophy (MONDO:0006573; AR; Definitive).
[ ] AGPS — HGNC:327; alkylglycerone-phosphate synthase deficiency (MONDO:0100274; AR; Definitive).
[ ] AGRN — HGNC:329; congenital myasthenic syndrome 8 (MONDO:0014052; AR; Definitive).
[ ] AGTPBP1 — HGNC:17258; neurodegeneration, childhood-onset, with cerebellar atrophy (MONDO:0032650; AR; Definitive).
[ ] AGXT — HGNC:341; alanine glyoxylate aminotransferase deficiency (MONDO:0100278; AR; Definitive).
[ ] AHCY — HGNC:343; hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (MONDO:0013404; AR; Definitive).
[ ] AHDC1 — HGNC:25230; AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome (MONDO:0014358; AD; Definitive).
[ ] AHI1 — HGNC:21575; Joubert syndrome 3 (MONDO:0012078; AR; Definitive).
[ ] AICDA — HGNC:13203; hyper-IgM syndrome type 2 (MONDO:0011528; AD; Definitive); hyper-IgM syndrome type 2 (MONDO:0011528; AR; Definitive).
[ ] AIFM1 — HGNC:8768; Leigh syndrome (MONDO:0009723; XL; Moderate); X-linked hereditary sensory and autonomic neuropathy with hearing loss (MONDO:0010378; XL; Definitive).
[ ] AIMP1 — HGNC:10648; hypomyelinating leukodystrophy 3 (MONDO:0009843; AR; Definitive).
[ ] AIMP2 — HGNC:20609; leukodystrophy, hypomyelinating, 17 (MONDO:0054817; AR; Definitive).
[ ] AIPL1 — HGNC:359; AIPL1-related retinopathy (MONDO:0100438; AR; Definitive).
[ ] AIRE — HGNC:360; autoimmune polyendocrine syndrome type 1 (MONDO:0009411; AR; Definitive).
[ ] AK2 — HGNC:362; reticular dysgenesis (MONDO:0009973; AR; Definitive).
[ ] AKR1D1 — HGNC:388; congenital bile acid synthesis defect 2 (MONDO:0009339; AR; Definitive).
[ ] AKT2 — HGNC:392; AKT2-related familial partial lipodystrophy (MONDO:0019192; AD; Limited); hypoinsulinemic hypoglycemia and body hemihypertrophy (MONDO:0009416; AD; Definitive).
[ ] AKT3 — HGNC:393; microcephaly (MONDO:0001149; AD; Limited); overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes (MONDO:0100283; AD; Definitive).
[ ] ALAS2 — HGNC:397; X-linked erythropoietic protoporphyria (MONDO:0010420; XL; Definitive).
[ ] ALB — HGNC:399; congenital analbuminemia (MONDO:0014449; AR; Definitive); hyperthyroxinemia, familial dysalbuminemic (MONDO:0014448; AD; Moderate).
[ ] ALDH18A1 — HGNC:9722; P5CS deficiency (MONDO:0100126; SD; Definitive).
[ ] ALDH4A1 — HGNC:406; hyperprolinemia type 2 (MONDO:0009401; AR; Definitive).
[ ] ALDH5A1 — HGNC:408; succinic semialdehyde dehydrogenase deficiency (MONDO:0010083; AR; Definitive).
[ ] ALDH7A1 — HGNC:877; pyridoxine-dependent epilepsy (MONDO:0009945; AR; Definitive).
[ ] ALDOB — HGNC:417; hereditary fructose intolerance (MONDO:0009249; AR; Definitive).
[ ] ALG1 — HGNC:18294; ALG1-congenital disorder of glycosylation (MONDO:0012052; AR; Definitive).
[ ] ALG12 — HGNC:19358; ALG12-congenital disorder of glycosylation (MONDO:0011783; AR; Definitive).
[ ] ALG13 — HGNC:30881; genetic developmental and epileptic encephalopathy (MONDO:0100062; XL; Definitive).
[ ] ALG3 — HGNC:23056; ALG3-congenital disorder of glycosylation (MONDO:0010998; AR; Definitive).
[ ] ALG6 — HGNC:23157; ALG6-congenital disorder of glycosylation 1C (MONDO:0011291; AR; Definitive); cystic kidney disease (MONDO:0002473; AD; Limited).
[ ] ALG8 — HGNC:23161; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Definitive).
[ ] ALG9 — HGNC:15672; ALG9-associated autosomal dominant polycystic kidney disease (MONDO:0700000; AD; Definitive).
[ ] ALK — HGNC:427; neuroblastoma, susceptibility to, 3 (MONDO:0013083; AD; Definitive).
[ ] ALMS1 — HGNC:428; Alstrom syndrome (MONDO:0008763; AR; Definitive).
[ ] ALPK1 — HGNC:20917; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome (MONDO:0013999; AD; Definitive).
[ ] ALPK3 — HGNC:17574; hypertrophic cardiomyopathy (MONDO:0005045; AD; Strong); hypertrophic cardiomyopathy (MONDO:0005045; AR; Definitive).
[ ] ALPL — HGNC:438; ALPL-related autosomal dominant hypophosphatasia (MONDO:0100608; AD; Definitive); ALPL-related autosomal recessive hypophosphatasia (MONDO:0100609; AR; Definitive).
[ ] ALS2 — HGNC:443; ALS2-related motor neuron disease (MONDO:0100227; AR; Definitive).
[ ] ALX1 — HGNC:1494; frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome (MONDO:0013271; AR; Definitive).
[ ] ALX3 — HGNC:449; frontorhiny (MONDO:0007636; AR; Definitive).
[ ] ALX4 — HGNC:450; frontonasal dysplasia with alopecia and genital anomaly (MONDO:0013268; AR; Definitive).
[ ] AMACR — HGNC:451; alpha-methylacyl-CoA racemase deficiency (MONDO:0013681; AR; Definitive).
[ ] AMER1 — HGNC:26837; osteopathia striata with cranial sclerosis (MONDO:0010310; XL; Definitive).
[ ] AMT — HGNC:473; glycine encephalopathy (MONDO:0011612; AR; Definitive).
[ ] ANGPTL3 — HGNC:491; familial hypobetalipoproteinemia 2 (MONDO:0011505; AR; Definitive).
[ ] ANK1 — HGNC:492; hereditary spherocytosis (MONDO:0019350; AD; Definitive); hereditary spherocytosis (MONDO:0019350; AR; Limited).
[ ] ANK2 — HGNC:493; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ANKRD11 — HGNC:21316; KBG syndrome (MONDO:0007846; AD; Definitive).
[ ] ANKRD17 — HGNC:23575; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] ANKRD26 — HGNC:29186; thrombocytopenia 2 (MONDO:0008555; AD; Definitive).
[ ] ANKS6 — HGNC:26724; nephronophthisis 16 (MONDO:0014158; AR; Definitive).
[ ] ANO10 — HGNC:25519; autosomal recessive spinocerebellar ataxia 10 (MONDO:0013392; AR; Definitive).
[ ] ANO5 — HGNC:27337; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive); gnathodiaphyseal dysplasia (MONDO:0008151; AD; Definitive).
[ ] ANOS1 — HGNC:6211; hypogonadotropic hypogonadism 1 with or without anosmia (MONDO:0010635; XL; Definitive).
[ ] ANTXR1 — HGNC:21014; GAPO syndrome (MONDO:0009263; AR; Definitive).
[ ] ANTXR2 — HGNC:21732; hyaline fibromatosis syndrome (MONDO:0009229; AR; Definitive).
[ ] ANXA11 — HGNC:535; amyotrophic lateral sclerosis type 23 (MONDO:0027694; AD; Definitive).
[ ] AP1B1 — HGNC:554; ichthyosiform erythroderma, corneal involvement, and hearing loss (MONDO:0009440; AR; Definitive).
[ ] AP1S1 — HGNC:559; MEDNIK syndrome (MONDO:0012251; AR; Definitive).
[ ] AP1S2 — HGNC:560; X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018; XL; Definitive).
[ ] AP2M1 — HGNC:564; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] AP3B1 — HGNC:566; Hermansky-Pudlak syndrome 2 (MONDO:0011997; AR; Definitive).
[ ] AP3B2 — HGNC:567; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] AP4B1 — HGNC:572; AP-4 deficiency syndrome (MONDO:0100176; AR; Definitive).
[ ] AP4E1 — HGNC:573; AP-4 deficiency syndrome (MONDO:0100176; AR; Definitive).
[ ] AP4M1 — HGNC:574; AP-4 deficiency syndrome (MONDO:0100176; AR; Definitive).
[ ] AP4S1 — HGNC:575; AP-4 deficiency syndrome (MONDO:0100176; AR; Definitive).
[ ] AP5Z1 — HGNC:22197; hereditary spastic paraplegia (MONDO:0019064; AR; Definitive).
[ ] APC — HGNC:583; classic or attenuated familial adenomatous polyposis (MONDO:0021057; AD; Definitive); gastric adenocarcinoma and proximal polyposis of the stomach (MONDO:0017790; AD; Definitive).
[ ] APOB — HGNC:603; familial hypobetalipoproteinemia 1 (MONDO:0014252; SD; Definitive); hypercholesterolemia, autosomal dominant, type B (MONDO:0007751; AD; Definitive).
[ ] APOL1 — HGNC:618; focal segmental glomerulosclerosis 4, susceptibility to (MONDO:0012931; AR; Definitive).
[ ] APP — HGNC:620; cerebral amyloid angiopathy, APP-related (MONDO:0011583; AD; Definitive).
[ ] AR — HGNC:644; Kennedy disease (MONDO:0010735; XL; Definitive).
[ ] ARF1 — HGNC:652; periventricular nodular heterotopia (MONDO:0020341; AD; Definitive).
[ ] ARFGEF1 — HGNC:15772; developmental delay, impaired speech, and behavioral abnormalities, with or without seizures (MONDO:0859263; AD; Definitive).
[ ] ARFGEF2 — HGNC:15853; periventricular heterotopia with microcephaly, autosomal recessive (MONDO:0011966; AR; Definitive).
[ ] ARG1 — HGNC:663; arginase deficiency (MONDO:0008814; AR; Definitive).
[ ] ARHGAP29 — HGNC:30207; ARHGAP29-related non-syndromic orofacial cleft (MONDO:1060132; AD; Definitive).
[ ] ARHGEF9 — HGNC:14561; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] ARID1A — HGNC:11110; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] ARID1B — HGNC:18040; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] ARID2 — HGNC:18037; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] ARL13B — HGNC:25419; Joubert syndrome (MONDO:0018772; AR; Definitive).
[ ] ARL2BP — HGNC:17146; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] ARL6 — HGNC:13210; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] ARL6IP1 — HGNC:697; hereditary spastic paraplegia (MONDO:0019064; AR; Definitive).
[ ] ARMC2 — HGNC:23045; spermatogenic failure 38 (MONDO:0032748; AR; Definitive).
[ ] ARMC9 — HGNC:20730; Joubert syndrome 30 (MONDO:0033308; AR; Definitive).
[ ] ARPC1B — HGNC:704; platelet abnormalities with eosinophilia and immune-mediated inflammatory disease (MONDO:0060583; AR; Definitive).
[ ] ARSA — HGNC:713; metachromatic leukodystrophy (MONDO:0018868; AR; Definitive).
[ ] ARSB — HGNC:714; mucopolysaccharidosis type 6 (MONDO:0009661; AR; Definitive).
[ ] ARSL — HGNC:719; X-linked chondrodysplasia punctata 1 (MONDO:0010555; XL; Definitive).
[ ] ARX — HGNC:18060; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; XL; Definitive).
[ ] ASAH1 — HGNC:735; ASAH1-related sphingolipidosis (MONDO:0100524; AR; Definitive).
[ ] ASH1L — HGNC:19088; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] ASL — HGNC:746; argininosuccinic aciduria (MONDO:0008815; AR; Definitive).
[ ] ASNS — HGNC:753; congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome (MONDO:0014258; AR; Definitive).
[ ] ASPA — HGNC:756; Canavan disease (MONDO:0010079; AR; Definitive).
[ ] ASPM — HGNC:19048; autosomal recessive primary microcephaly (MONDO:0016660; AR; Definitive).
[ ] ASS1 — HGNC:758; citrullinemia type I (MONDO:0008988; AR; Definitive).
[ ] ASXL1 — HGNC:18318; Bohring-Opitz syndrome (MONDO:0011510; AD; Definitive).
[ ] ASXL2 — HGNC:23805; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] ASXL3 — HGNC:29357; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] ATF6 — HGNC:791; ATF6-related retinopathy (MONDO:0100447; AR; Definitive).
[ ] ATL1 — HGNC:11231; neuropathy, hereditary sensory, type 1D (MONDO:0013381; AD; Definitive).
[ ] ATM — HGNC:795; ATM-related cancer predisposition (MONDO:0700270; AD; Definitive); ataxia telangiectasia (MONDO:0008840; AR; Definitive).
[ ] ATN1 — HGNC:3033; dentatorubral-pallidoluysian atrophy (MONDO:0007435; AD; Definitive).
[ ] ATP13A2 — HGNC:30213; Kufor-Rakeb syndrome (MONDO:0011706; AR; Definitive).
[ ] ATP13A3 — HGNC:24113; pulmonary arterial hypertension (MONDO:0015924; SD; Definitive).
[ ] ATP1A1 — HGNC:799; Charcot-Marie-tooth disease, axonal, type 2DD (MONDO:0054833; AD; Definitive).
[ ] ATP1A2 — HGNC:800; fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies (MONDO:0859204; AR; Definitive); hemiplegic migraine-developmental and epileptic encephalopathy spectrum (MONDO:0100539; AD; Definitive).
[ ] ATP1A3 — HGNC:801; ATP1A3-associated neurological disorder (MONDO:0700002; AD; Definitive).
[ ] ATP2B2 — HGNC:815; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Definitive).
[ ] ATP6AP1 — HGNC:868; congenital disorder of glycosylation type II (MONDO:0005501; XL; Definitive).
[ ] ATP6AP2 — HGNC:18305; ATP6AP2-related disorder (MONDO:0100146; XL; Definitive).
[ ] ATP6V0A2 — HGNC:18481; autosomal recessive cutis laxa type 2A (MONDO:0018163; AR; Definitive).
[ ] ATP6V1B1 — HGNC:853; renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss (MONDO:0009968; AR; Definitive).
[ ] ATP7A — HGNC:869; Menkes disease (MONDO:0010651; XL; Definitive); X-linked distal spinal muscular atrophy type 3 (MONDO:0010338; XL; Moderate).
[ ] ATP7B — HGNC:870; Wilson disease (MONDO:0010200; AR; Definitive).
[ ] ATP8A2 — HGNC:13533; cerebellar ataxia, intellectual disability, and dysequilibrium (MONDO:0009133; AR; Definitive).
[ ] ATRX — HGNC:886; ATR-X-related syndrome (MONDO:0016980; XL; Definitive).
[ ] ATXN2 — HGNC:10555; spinocerebellar ataxia type 2 (MONDO:0008458; AD; Definitive).
[ ] AUH — HGNC:890; 3-methylglutaconic aciduria type 1 (MONDO:0009610; AR; Definitive).
[ ] AURKC — HGNC:11391; spermatogenic failure 5 (MONDO:0009461; AR; Definitive).
[ ] AUTS2 — HGNC:14262; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] AXIN2 — HGNC:904; oligodontia-cancer predisposition syndrome (MONDO:0012075; AD; Definitive).
[ ] B3GALNT2 — HGNC:28596; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 (MONDO:0014071; AR; Definitive).
[ ] B3GALT6 — HGNC:17978; B3GALT6-congenital disorder of glycosylation (MONDO:0100586; AR; Definitive).
[ ] B3GLCT — HGNC:20207; Peters plus syndrome (MONDO:0009856; AR; Definitive).
[ ] B4GALNT1 — HGNC:4117; complex hereditary spastic paraplegia (MONDO:0015150; AR; Definitive).
[ ] B4GALT1 — HGNC:924; B4GALT1-congenital disorder of glycosylation (MONDO:0011772; AR; Definitive).
[ ] B4GALT7 — HGNC:930; Ehlers-Danlos syndrome, spondylodysplastic type, 1 (MONDO:0020682; AR; Definitive).
[ ] B9D1 — HGNC:24123; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] BAG3 — HGNC:939; dilated cardiomyopathy 1HH (MONDO:0013479; AD; Definitive); myofibrillar myopathy (MONDO:0018943; AD; Definitive).
[ ] BAP1 — HGNC:950; BAP1-related tumor predisposition syndrome (MONDO:0013692; AD; Definitive).
[ ] BARD1 — HGNC:952; BARD1-related cancer predisposition (MONDO:0700267; AD; Definitive).
[ ] BBIP1 — HGNC:28093; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] BBS1 — HGNC:966; BBS1-related ciliopathy (MONDO:1040043; AR; Definitive).
[ ] BBS10 — HGNC:26291; BBS10-related ciliopathy (MONDO:0700237; AR; Definitive).
[ ] BBS12 — HGNC:26648; BBS12-related ciliopathy (MONDO:1040045; AR; Definitive).
[ ] BBS2 — HGNC:967; BBS2-related ciliopathy (MONDO:1040048; AR; Definitive).
[ ] BBS4 — HGNC:969; BBS4-related ciliopathy (MONDO:1040044; AR; Definitive).
[ ] BBS5 — HGNC:970; BBS5-related ciliopathy (MONDO:1040047; AR; Definitive).
[ ] BBS7 — HGNC:18758; BBS7-related ciliopathy (MONDO:1040042; AR; Definitive).
[ ] BBS9 — HGNC:30000; BBS9-related ciliopathy (MONDO:0700236; AR; Definitive).
[ ] BCAP31 — HGNC:16695; severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (MONDO:0010334; XL; Definitive).
[ ] BCAT2 — HGNC:977; hypervalinemia and hyperleucine-isoleucinemia (MONDO:0100058; AR; Definitive).
[ ] BCKDHA — HGNC:986; maple syrup urine disease type 1A (MONDO:0023691; AR; Definitive).
[ ] BCKDHB — HGNC:987; maple syrup urine disease type 1B (MONDO:0023692; AR; Definitive).
[ ] BCKDK — HGNC:16902; branched-chain keto acid dehydrogenase kinase deficiency (MONDO:0013970; AR; Definitive).
[ ] BCL10 — HGNC:989; immunodeficiency 37 (MONDO:0014491; AR; Definitive).
[ ] BCL11A — HGNC:13221; Dias-Logan syndrome (MONDO:0014914; AD; Definitive).
[ ] BCL11B — HGNC:13222; intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities (MONDO:0060763; AD; Definitive).
[ ] BCOR — HGNC:20893; microphthalmia, syndromic 2 (MONDO:0010261; XL; Definitive).
[ ] BCS1L — HGNC:1020; Bjornstad syndrome (MONDO:0009872; AR; Definitive); Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] BEST1 — HGNC:12703; BEST1-related dominant retinopathy (MONDO:0700238; AD; Definitive).
[ ] BICRA — HGNC:4332; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] BIN1 — HGNC:1052; centronuclear myopathy (MONDO:0018947; AD; Limited); centronuclear myopathy (MONDO:0018947; AR; Definitive).
[ ] BLM — HGNC:1058; Bloom syndrome (MONDO:0008876; AR; Definitive); colorectal cancer (MONDO:0005575; AD; Limited).
[ ] BLNK — HGNC:14211; agammaglobulinemia 4, autosomal recessive (MONDO:0013289; AR; Definitive).
[ ] BLOC1S5 — HGNC:18561; Hermansky-Pudlak syndrome 11 (MONDO:0030903; AR; Definitive).
[ ] BLOC1S6 — HGNC:8549; Hermansky-Pudlak syndrome 9 (MONDO:0013606; AR; Definitive).
[ ] BLTP1 — HGNC:26953; Alkuraya-Kucinskas syndrome (MONDO:0060631; AR; Definitive).
[ ] BMP4 — HGNC:1071; BMP4-related ocular growth disorder (MONDO:0100613; AD; Definitive).
[ ] BMPR1A — HGNC:1076; juvenile polyposis syndrome (MONDO:0017380; AD; Definitive).
[ ] BMPR2 — HGNC:1078; congenital heart disease (MONDO:0005453; AD; Limited); pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] BOLA3 — HGNC:24415; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] BPTF — HGNC:3581; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] BRAF — HGNC:1097; Noonan syndrome (MONDO:0018997; AD; Moderate); Noonan syndrome with multiple lentigines (MONDO:0007893; AD; Limited); cardiofaciocutaneous syndrome (MONDO:0015280; AD; Definitive).
[ ] BRAT1 — HGNC:21701; neonatal-onset encephalopathy with rigidity and seizures (MONDO:0013784; AR; Definitive); neurodevelopmental disorder with cerebellar atrophy and with or without seizures (MONDO:0020841; AR; Definitive).
[ ] BRCA1 — HGNC:1100; BRCA1-related cancer predisposition (MONDO:0700268; AD; Definitive); Fanconi anemia, complementation group S (MONDO:0054748; AR; Definitive).
[ ] BRCA2 — HGNC:1101; BRCA2-related cancer predisposition (MONDO:0700269; AD; Definitive); Fanconi anemia complementation group D1 (MONDO:0011584; AR; Definitive).
[ ] BRD4 — HGNC:13575; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] BRIP1 — HGNC:20473; Fanconi anemia complementation group J (MONDO:0012187; AR; Definitive); familial ovarian cancer (MONDO:0016248; AD; Definitive).
[ ] BRPF1 — HGNC:14255; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] BRSK2 — HGNC:11405; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] BRWD3 — HGNC:17342; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] BSCL2 — HGNC:15832; distal hereditary motor neuropathy (MONDO:0018894; AD; Definitive); lipodystrophy (MONDO:0006573; AR; Definitive).
[ ] BSND — HGNC:16512; Bartter disease type 4A (MONDO:0011242; AR; Definitive).
[ ] BTD — HGNC:1122; Leigh syndrome (MONDO:0009723; AR; Moderate); biotinidase deficiency (MONDO:0009665; AR; Definitive).
[ ] BTK — HGNC:1133; Bruton-type agammaglobulinemia (MONDO:0010421; XL; Definitive).
[ ] BUB1B — HGNC:1149; mosaic variegated aneuploidy syndrome 1 (MONDO:0009759; AR; Definitive).
[ ] C19orf12 — HGNC:25443; neurodegeneration with brain iron accumulation 4 (MONDO:0013674; AD; Moderate); neurodegeneration with brain iron accumulation 4 (MONDO:0013674; AR; Definitive).
[ ] C1QA — HGNC:1241; systemic lupus erythematosus related to C1QA (MONDO:1060174; AR; Definitive).
[ ] C1QB — HGNC:1242; C1Q deficiency (MONDO:0013343; AR; Definitive).
[ ] C1QBP — HGNC:1243; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] C1QTNF5 — HGNC:14344; inherited retinal dystrophy (MONDO:0019118; AD; Definitive).
[ ] C2CD3 — HGNC:24564; orofaciodigital syndrome type 14 (MONDO:0014413; AR; Definitive).
[ ] C3 — HGNC:1318; C3 glomerulonephritis (MONDO:0013892; AD; Moderate); atypical hemolytic-uremic syndrome with C3 anomaly (MONDO:0013043; AD; Definitive).
[ ] C9orf72 — HGNC:28337; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (MONDO:0007105; AD; Definitive).
[ ] CA2 — HGNC:1373; autosomal recessive osteopetrosis 3 (MONDO:0009818; AR; Definitive).
[ ] CA5A — HGNC:1377; hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency (MONDO:0014332; AR; Definitive).
[ ] CABP2 — HGNC:1385; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] CACNA1C — HGNC:1390; Timothy syndrome (MONDO:0010979; AD; Definitive); long QT syndrome (MONDO:0002442; AD; Moderate).
[ ] CACNA1D — HGNC:1391; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); sinoatrial node dysfunction and deafness (MONDO:0013960; AR; Moderate).
[ ] CACNA1E — HGNC:1392; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] CACNA1F — HGNC:1393; CACNA1F-related retinopathy (MONDO:0700243; XL; Definitive).
[ ] CACNA1G — HGNC:1394; spinocerebellar ataxia type 42 (MONDO:0014776; AD; Definitive).
[ ] CACNA2D4 — HGNC:20202; CACNA2D4-related retinopathy (MONDO:0700244; AR; Definitive).
[ ] CAD — HGNC:1424; developmental and epileptic encephalopathy, 50 (MONDO:0014647; AR; Definitive).
[ ] CALM1 — HGNC:1442; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AD; Moderate); long QT syndrome (MONDO:0002442; AD; Definitive).
[ ] CALM2 — HGNC:1445; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AD; Moderate); long QT syndrome (MONDO:0002442; AD; Definitive).
[ ] CALM3 — HGNC:1449; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AD; Moderate); long QT syndrome (MONDO:0002442; AD; Definitive).
[ ] CAMK2A — HGNC:1460; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CAMTA1 — HGNC:18806; cerebellar dysfunction with variable cognitive and behavioral abnormalities (MONDO:0013886; AD; Definitive).
[ ] CANT1 — HGNC:19721; Desbuquois dysplasia 1 (MONDO:0009629; AR; Definitive).
[ ] CAPN3 — HGNC:1480; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive); muscular dystrophy, limb-girdle, autosomal dominant (MONDO:0015151; AD; Definitive).
[ ] CAPN5 — HGNC:1482; CAPN5-related vitreoretinopathy (MONDO:0100450; AD; Definitive).
[ ] CARD11 — HGNC:16393; BENTA disease (MONDO:0014645; AD; Definitive); immunodeficiency 11b with atopic dermatitis (MONDO:0054697; AD; Definitive); severe combined immunodeficiency due to CARD11 deficiency (MONDO:0014081; AR; Definitive).
[ ] CARMIL2 — HGNC:27089; severe combined immunodeficiency due to CARMIL2 deficiency (MONDO:0029134; AR; Definitive).
[ ] CASK — HGNC:1497; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] CASP8 — HGNC:1509; autoimmune lymphoproliferative syndrome type 2B (MONDO:0011804; AR; Definitive).
[ ] CASQ2 — HGNC:1513; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AD; Moderate); catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AR; Definitive).
[ ] CASR — HGNC:1514; autosomal dominant hypocalcemia 1 (MONDO:0011013; AD; Definitive); familial hypocalciuric hypercalcemia 1 (MONDO:0007791; AD; Definitive); neonatal severe primary hyperparathyroidism (MONDO:0009397; AR; Definitive).
[ ] CAV1 — HGNC:1527; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited); congenital generalized lipodystrophy type 3 (MONDO:0012923; AR; Definitive); lipodystrophy (MONDO:0006573; AD; Limited); pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] CAV3 — HGNC:1529; caveolinopathy (MONDO:0016146; AD; Definitive); long QT syndrome (MONDO:0002442; AD; Limited).
[ ] CAVIN1 — HGNC:9688; lipodystrophy (MONDO:0006573; AR; Definitive).
[ ] CBFB — HGNC:1539; cleidocranial dysplasia 2 (MONDO:0859307; AD; Definitive).
[ ] CBL — HGNC:1541; CBL-related disorder (MONDO:0013308; AD; Definitive).
[ ] CBS — HGNC:1550; classic homocystinuria (MONDO:0009352; AR; Definitive).
[ ] CC2D1A — HGNC:30237; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] CC2D2A — HGNC:29253; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CCDC39 — HGNC:25244; primary ciliary dyskinesia 14 (MONDO:0013434; AR; Definitive).
[ ] CCDC40 — HGNC:26090; primary ciliary dyskinesia 15 (MONDO:0013435; AR; Definitive).
[ ] CCM2 — HGNC:21708; cerebral cavernous malformation 2 (MONDO:0011304; AD; Definitive).
[ ] CCN6 — HGNC:12771; progressive pseudorheumatoid arthropathy of childhood (MONDO:0008827; AR; Definitive).
[ ] CCND2 — HGNC:1583; megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MONDO:0014408; AD; Definitive).
[ ] CCNO — HGNC:18576; primary ciliary dyskinesia 29 (MONDO:0014378; AR; Definitive).
[ ] CD19 — HGNC:1633; immunodeficiency, common variable, 3 (MONDO:0013283; AR; Definitive).
[ ] CD247 — HGNC:1677; immunodeficiency 25 (MONDO:0012426; AR; Definitive).
[ ] CD27 — HGNC:11922; lymphoproliferative syndrome 2 (MONDO:0014054; AR; Definitive).
[ ] CD2AP — HGNC:14258; focal segmental glomerulosclerosis 3, susceptibility to (MONDO:0011917; AR; Definitive); inherited focal segmental glomerulosclerosis (MONDO:0005363; AD; Moderate).
[ ] CD320 — HGNC:16692; methylmalonic acidemia due to transcobalamin receptor defect (MONDO:0013341; AR; Definitive).
[ ] CD3D — HGNC:1673; immunodeficiency 19 (MONDO:0014280; AR; Definitive).
[ ] CD3E — HGNC:1674; immunodeficiency 18 (MONDO:0014278; AR; Definitive).
[ ] CD3G — HGNC:1675; combined immunodeficiency due to CD3gamma deficiency (MONDO:0014276; AR; Definitive).
[ ] CD40 — HGNC:11919; hyper-IgM syndrome type 3 (MONDO:0011735; AR; Definitive).
[ ] CD40LG — HGNC:11935; hyper-IgM syndrome type 1 (MONDO:0010626; XL; Definitive).
[ ] CD46 — HGNC:6953; atypical hemolytic-uremic syndrome (MONDO:0016244; SD; Definitive).
[ ] CD70 — HGNC:11937; severe combined immunodeficiency due to CD70 deficiency (MONDO:0034054; AR; Definitive).
[ ] CD79A — HGNC:1698; agammaglobulinemia 3, autosomal recessive (MONDO:0013288; AR; Definitive).
[ ] CD79B — HGNC:1699; agammaglobulinemia 6, autosomal recessive (MONDO:0012987; AR; Definitive).
[ ] CDAN1 — HGNC:1713; anemia, congenital dyserythropoietic, type 1a (MONDO:0009135; AR; Definitive).
[ ] CDC14A — HGNC:1718; hearing impairment and infertile male syndrome (MONDO:0100069; AR; Strong); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] CDC42 — HGNC:1736; macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome (MONDO:0014757; AD; Definitive).
[ ] CDC45 — HGNC:1739; Meier-Gorlin syndrome 7 (MONDO:0014894; AR; Definitive).
[ ] CDC73 — HGNC:16783; hyperparathyroidism 2 with jaw tumors (MONDO:0007768; AD; Definitive).
[ ] CDH1 — HGNC:1748; CDH1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100488; AD; Definitive).
[ ] CDH11 — HGNC:1750; Elsahy-Waters syndrome (MONDO:0008885; AR; Definitive); Teebi hypertelorism syndrome 2 (MONDO:0030674; AD; Moderate).
[ ] CDH2 — HGNC:1759; agenesis of corpus callosum, cardiac, ocular, and genital syndrome (MONDO:0030065; AD; Definitive); arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] CDH23 — HGNC:13733; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] CDH3 — HGNC:1762; EEM syndrome (MONDO:0009155; AR; Definitive).
[ ] CDHR1 — HGNC:14550; retinitis pigmentosa 65 (MONDO:0800352; AR; Definitive).
[ ] CDK13 — HGNC:1733; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] CDK4 — HGNC:1773; melanoma, cutaneous malignant, susceptibility to, 3 (MONDO:0012183; AD; Definitive).
[ ] CDK5RAP2 — HGNC:18672; autosomal recessive primary microcephaly (MONDO:0016660; AR; Definitive).
[ ] CDKL5 — HGNC:11411; CDKL5 disorder (MONDO:0100039; XL; Definitive).
[ ] CDKN1B — HGNC:1785; hereditary nonpolyposis colon cancer (MONDO:0018630; AR; Limited); multiple endocrine neoplasia type 4 (MONDO:0012552; AD; Definitive).
[ ] CDKN2A — HGNC:1787; melanoma-pancreatic cancer syndrome (MONDO:0011713; AD; Definitive).
[ ] CDT1 — HGNC:24576; Meier-Gorlin syndrome 4 (MONDO:0013431; AR; Definitive).
[ ] CEBPA — HGNC:1833; acute myeloid leukemia (MONDO:0018874; AD; Definitive).
[ ] CEP104 — HGNC:24866; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CEP120 — HGNC:26690; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CEP152 — HGNC:29298; microcephaly with or without short stature (MONDO:0100346; AR; Definitive).
[ ] CEP164 — HGNC:29182; CEP164-related ciliopathy (MONDO:0700344; AR; Definitive).
[ ] CEP250 — HGNC:1859; cone-rod dystrophy and hearing loss 2 (MONDO:0020780; AR; Definitive).
[ ] CEP290 — HGNC:29021; CEP290-related ciliopathy (MONDO:0100451; AR; Definitive).
[ ] CEP41 — HGNC:12370; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CEP57 — HGNC:30794; mosaic variegated aneuploidy syndrome 2 (MONDO:0013582; AR; Definitive).
[ ] CEP85L — HGNC:21638; lissencephaly 10 (MONDO:0030031; AD; Definitive).
[ ] CERKL — HGNC:21699; CERKL-related retinopathy (MONDO:0800401; AR; Definitive).
[ ] CFAP221 — HGNC:33720; primary ciliary dyskinesia (MONDO:0016575; AR; Definitive).
[ ] CFAP300 — HGNC:28188; ciliary dyskinesia, primary, 38 (MONDO:0054843; AR; Definitive).
[ ] CFAP410 — HGNC:1260; amyotrophic lateral sclerosis (MONDO:0004976; SD; Limited); ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CFAP418 — HGNC:27232; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] CFAP43 — HGNC:26684; primary ciliary dyskinesia (MONDO:0016575; AR; Limited); spermatogenic failure 19 (MONDO:0054723; AR; Definitive).
[ ] CFH — HGNC:4883; C3 glomerulonephritis (MONDO:0013892; AR; Definitive); atypical hemolytic-uremic syndrome (MONDO:0016244; SD; Definitive).
[ ] CFI — HGNC:5394; C3 glomerulonephritis (MONDO:0013892; AD; Moderate); atypical hemolytic-uremic syndrome (MONDO:0016244; AD; Definitive).
[ ] CFL2 — HGNC:1875; nemaline myopathy 7 (MONDO:0012538; AR; Definitive).
[ ] CFTR — HGNC:1884; cystic fibrosis (MONDO:0009061; AR; Definitive).
[ ] CHAMP1 — HGNC:20311; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CHAT — HGNC:1912; congenital myasthenic syndrome 6 (MONDO:0009689; AR; Definitive).
[ ] CHCHD10 — HGNC:15559; frontotemporal dementia and/or amyotrophic lateral sclerosis 2 (MONDO:0014395; AD; Moderate); mitochondrial disease (MONDO:0044970; AD; Definitive).
[ ] CHD2 — HGNC:1917; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CHD3 — HGNC:1918; Snijders Blok-Campeau syndrome (MONDO:0032600; AD; Definitive).
[ ] CHD4 — HGNC:1919; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] CHD7 — HGNC:20626; CHARGE syndrome (MONDO:0008965; AD; Definitive).
[ ] CHD8 — HGNC:20153; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CHEK2 — HGNC:16627; CHEK2-related cancer predisposition (MONDO:0700271; AD; Definitive); hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited).
[ ] CHM — HGNC:1940; choroideremia (MONDO:0010557; XL; Definitive).
[ ] CHMP2B — HGNC:24537; frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (MONDO:0010936; AD; Definitive).
[ ] CHN1 — HGNC:1943; Duane retraction syndrome 2 (MONDO:0011444; AD; Definitive).
[ ] CHRNA1 — HGNC:1955; myasthenic syndrome, congenital, 1B, fast-channel (MONDO:0012156; AR; Definitive).
[ ] CHRNA4 — HGNC:1958; familial sleep-related hypermotor epilepsy (MONDO:0000030; AD; Definitive).
[ ] CHRNB1 — HGNC:1961; congenital myasthenic syndrome 2A (MONDO:0014581; AD; Moderate); congenital myasthenic syndrome 2C (MONDO:0014582; AR; Definitive).
[ ] CHRNB2 — HGNC:1962; familial sleep-related hypermotor epilepsy (MONDO:0000030; AD; Definitive).
[ ] CHRNG — HGNC:1967; CHRNG-associated hypo-akinesia disorder of prenatal onset (MONDO:0100158; AR; Definitive).
[ ] CHST14 — HGNC:24464; Ehlers-Danlos syndrome, musculocontractural type 1 (MONDO:0020681; AR; Definitive).
[ ] CHST3 — HGNC:1971; spondyloepiphyseal dysplasia with congenital joint dislocations (MONDO:0007738; AR; Definitive).
[ ] CHST6 — HGNC:6938; macular corneal dystrophy (MONDO:0009020; AR; Definitive).
[ ] CHSY1 — HGNC:17198; temtamy preaxial brachydactyly syndrome (MONDO:0011533; AR; Definitive).
[ ] CIB2 — HGNC:24579; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] CIC — HGNC:14214; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CIITA — HGNC:7067; MHC class II deficiency (MONDO:0008855; AR; Definitive).
[ ] CISD2 — HGNC:24212; Wolfram syndrome (MONDO:0018105; AR; Definitive).
[ ] CLCN4 — HGNC:2022; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] CLCN5 — HGNC:2023; Dent disease type 1 (MONDO:0010225; XL; Definitive).
[ ] CLCN7 — HGNC:2025; autosomal dominant osteopetrosis 2 (MONDO:0008156; AD; Definitive); autosomal recessive osteopetrosis 4 (MONDO:0012676; AR; Definitive); hypopigmentation, organomegaly, and delayed myelination and development (MONDO:0032805; AD; Definitive).
[ ] CLDN14 — HGNC:2035; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] CLDN16 — HGNC:2037; renal hypomagnesemia 3 (MONDO:0009550; AR; Definitive).
[ ] CLN3 — HGNC:2074; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] CLN5 — HGNC:2076; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] CLN6 — HGNC:2077; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] CLN8 — HGNC:2079; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] CLPP — HGNC:2084; Perrault syndrome 3 (MONDO:0013588; AR; Definitive).
[ ] CLRN1 — HGNC:12605; Usher syndrome type 3 (MONDO:0016485; AR; Definitive).
[ ] CNGA1 — HGNC:2148; CNGA1-related retinopathy (MONDO:0800405; AR; Definitive).
[ ] CNGA3 — HGNC:2150; CNGA3-related retinopathy (MONDO:0800102; AR; Definitive).
[ ] CNGB1 — HGNC:2151; CNGB1-related retinopathy (MONDO:0800403; AR; Definitive).
[ ] CNGB3 — HGNC:2153; CNGB3-related retinopathy (MONDO:0100446; AR; Definitive).
[ ] CNKSR2 — HGNC:19701; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] CNNM2 — HGNC:103; hypomagnesemia, seizures, and intellectual disability 1 (MONDO:0020787; SD; Definitive).
[ ] CNNM4 — HGNC:105; Jalili syndrome (MONDO:0009007; AR; Definitive).
[ ] CNOT1 — HGNC:7877; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); holoprosencephaly 12 with or without pancreatic agenesis (MONDO:0032787; AD; Limited).
[ ] CNOT3 — HGNC:7879; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CNTN2 — HGNC:2172; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] CNTNAP2 — HGNC:13830; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] COA6 — HGNC:18025; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COA7 — HGNC:25716; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COA8 — HGNC:20492; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COCH — HGNC:2180; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] COG4 — HGNC:18620; COG4-congenital disorder of glycosylation (MONDO:0013281; AR; Moderate); microcephalic osteodysplastic dysplasia, Saul-Wilson type (MONDO:0019407; AD; Definitive).
[ ] COG5 — HGNC:14857; COG5-congenital disorder of glycosylation (MONDO:0013325; AR; Definitive).
[ ] COG6 — HGNC:18621; COG6-congenital disorder of glycosylation (MONDO:0013810; AR; Definitive).
[ ] COG7 — HGNC:18622; COG7-congenital disorder of glycosylation (MONDO:0012118; AR; Definitive).
[ ] COG8 — HGNC:18623; COG8-congenital disorder of glycosylation (MONDO:0012635; AR; Definitive).
[ ] COL10A1 — HGNC:2185; Schmid metaphyseal chondrodysplasia (MONDO:0007983; AD; Definitive).
[ ] COL11A2 — HGNC:2187; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate); otospondylomegaepiphyseal dysplasia (MONDO:0008975; AD; Definitive); otospondylomegaepiphyseal dysplasia (MONDO:0008975; AR; Definitive).
[ ] COL18A1 — HGNC:2195; Knobloch syndrome 1 (MONDO:0800167; AR; Definitive).
[ ] COL1A1 — HGNC:2197; COL1A1-related Ehlers-Danlos syndrome (MONDO:0100599; AD; Definitive); Caffey disease (MONDO:0007244; AD; Definitive); osteogenesis imperfecta (MONDO:0019019; AD; Definitive).
[ ] COL1A2 — HGNC:2198; COL1A2-related Ehlers-Danlos syndrome (MONDO:0100606; AD; Definitive); COL1A2-related osteogenesis imperfecta (MONDO:0100596; AD; Definitive); Ehlers-Danlos syndrome, cardiac valvular type (MONDO:0009159; AR; Definitive).
[ ] COL2A1 — HGNC:2200; COL2A1-related spondyloepiphyseal dysplasia (MONDO:0100602; AD; Definitive); Kniest dysplasia (MONDO:0007987; AD; Definitive); Stickler syndrome type 1 (MONDO:0007160; AD; Definitive); achondrogenesis type II (MONDO:0008702; AD; Definitive); dysplasia of the proximal femoral epiphyses (MONDO:1030002; AD; Definitive); platyspondylic dysplasia, Torrance type (MONDO:0007895; AD; Definitive); spondyloperipheral dysplasia (MONDO:0010078; AD; Definitive).
[ ] COL3A1 — HGNC:2201; Ehlers-Danlos syndrome, vascular type (MONDO:0017314; AD; Definitive).
[ ] COL4A1 — HGNC:2202; COL4A1-related disorder (MONDO:0800461; AD; Definitive).
[ ] COL4A3 — HGNC:2204; Alport syndrome (MONDO:0018965; SD; Definitive).
[ ] COL4A4 — HGNC:2206; Alport syndrome (MONDO:0018965; SD; Definitive).
[ ] COL4A5 — HGNC:2207; Alport syndrome (MONDO:0018965; XL; Definitive).
[ ] COL5A1 — HGNC:2209; Ehlers-Danlos syndrome, classic type (MONDO:0007522; AD; Definitive).
[ ] COL5A2 — HGNC:2210; Ehlers-Danlos syndrome, classic type (MONDO:0007522; AD; Definitive).
[ ] COL6A1 — HGNC:2211; collagen 6-related myopathy (MONDO:0100225; AD; Definitive); collagen 6-related myopathy (MONDO:0100225; AR; Definitive).
[ ] COL6A2 — HGNC:2212; collagen 6-related myopathy (MONDO:0100225; AD; Definitive); collagen 6-related myopathy (MONDO:0100225; AR; Definitive).
[ ] COL6A3 — HGNC:2213; collagen 6-related myopathy (MONDO:0100225; AD; Definitive); collagen 6-related myopathy (MONDO:0100225; AR; Definitive); dystonia 27 (MONDO:0014627; AR; Limited).
[ ] COL7A1 — HGNC:2214; recessive dystrophic epidermolysis bullosa (MONDO:0009179; AR; Definitive).
[ ] COL9A1 — HGNC:2217; Stickler syndrome, type 4 (MONDO:0013590; AR; Definitive).
[ ] COL9A3 — HGNC:2219; Stickler syndrome (MONDO:0019354; AR; Definitive).
[ ] COMP — HGNC:2227; COMP-related skeletal dysplasia (MONDO:0100593; AD; Definitive).
[ ] COQ2 — HGNC:25223; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COQ4 — HGNC:19693; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COQ6 — HGNC:20233; primary coenzyme Q10 deficiency 8 (MONDO:0014754; AR; Definitive).
[ ] COQ8B — HGNC:19041; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COQ9 — HGNC:25302; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] CORO1A — HGNC:2252; severe combined immunodeficiency due to CORO1A deficiency (MONDO:0014168; AR; Definitive).
[ ] COX10 — HGNC:2260; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COX15 — HGNC:2263; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COX20 — HGNC:26970; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COX6B1 — HGNC:2280; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] COXFA4 — HGNC:7687 (ClinGen source symbol: NDUFA4); Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] CP — HGNC:2295; aceruloplasminemia (MONDO:0011426; AR; Definitive).
[ ] CPAMD8 — HGNC:23228; anterior segment dysgenesis 8 (MONDO:0015017; AR; Definitive).
[ ] CPAP — HGNC:17272 (ClinGen source symbol: CENPJ); microcephaly 6 with or without short stature (MONDO:0700054; AR; Definitive).
[ ] CPLANE1 — HGNC:25801; Joubert syndrome 17 (MONDO:0013824; AR; Definitive).
[ ] CPOX — HGNC:2321; CPOX-related hereditary coproporphyria (MONDO:0800180; SD; Definitive).
[ ] CPS1 — HGNC:2323; carbamoyl phosphate synthetase I deficiency disease (MONDO:0009376; AR; Definitive).
[ ] CPT1A — HGNC:2328; carnitine palmitoyl transferase 1A deficiency (MONDO:0009705; AR; Definitive).
[ ] CPT2 — HGNC:2330; carnitine palmitoyltransferase II deficiency (MONDO:0015515; AR; Definitive).
[ ] CR2 — HGNC:2336; immunodeficiency, common variable, 7 (MONDO:0013862; AR; Definitive).
[ ] CRADD — HGNC:2340; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] CRB1 — HGNC:2343; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] CRB2 — HGNC:18688; focal segmental glomerulosclerosis 9 (MONDO:0014539; AR; Definitive).
[ ] CREBBP — HGNC:2348; Rubinstein-Taybi syndrome (MONDO:0019188; AD; Definitive).
[ ] CRPPA — HGNC:37276; myopathy caused by variation in CRPPA (MONDO:0100530; AR; Definitive).
[ ] CRX — HGNC:2383; cone-rod dystrophy 2 (MONDO:0007362; AD; Definitive).
[ ] CSDE1 — HGNC:29905; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CSF1R — HGNC:2433; brain abnormalities, neurodegeneration, and dysosteosclerosis (MONDO:0032772; AR; Definitive); leukoencephalopathy, diffuse hereditary, with spheroids 1 (MONDO:0800027; AD; Definitive).
[ ] CSF2RA — HGNC:2435; surfactant metabolism dysfunction, pulmonary, 4 (MONDO:0010424; AR; Definitive).
[ ] CSF2RB — HGNC:2436; surfactant metabolism dysfunction, pulmonary, 5 (MONDO:0013712; AR; Definitive).
[ ] CSNK2A1 — HGNC:2457; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] CSNK2B — HGNC:2460; Poirier-Bienvenu neurodevelopmental syndrome (MONDO:0032889; AD; Definitive).
[ ] CSPP1 — HGNC:26193; Joubert syndrome 21 (MONDO:0014288; AR; Definitive).
[ ] CSRP3 — HGNC:2472; dilated cardiomyopathy 1M (MONDO:0011840; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; SD; Definitive).
[ ] CSTB — HGNC:2482; Unverricht-Lundborg syndrome (MONDO:0009698; AR; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Moderate).
[ ] CTC1 — HGNC:26169; cerebroretinal microangiopathy with calcifications and cysts 1 (MONDO:0024564; AR; Definitive).
[ ] CTCF — HGNC:13723; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] CTH — HGNC:2501; cystathioninuria (MONDO:0009058; AR; Definitive).
[ ] CTLA4 — HGNC:2505; autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency (MONDO:0014493; AD; Definitive).
[ ] CTNNA1 — HGNC:2509; CTNNA1-related diffuse gastric and lobular breast cancer syndrome (MONDO:0100256; AD; Definitive).
[ ] CTNNB1 — HGNC:2514; CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy (MONDO:0100571; AD; Definitive).
[ ] CTNND1 — HGNC:2515; blepharocheilodontic syndrome 2 (MONDO:0040503; AD; Definitive).
[ ] CTNS — HGNC:2518; cystinosis (MONDO:0016239; AR; Definitive).
[ ] CTPS1 — HGNC:2519; severe combined immunodeficiency due to CTPS1 deficiency (MONDO:0014391; AR; Definitive).
[ ] CTSA — HGNC:9251; galactosialidosis (MONDO:0009737; AR; Definitive).
[ ] CTSD — HGNC:2529; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] CTSF — HGNC:2531; adult neuronal ceroid lipofuscinosis (MONDO:0019260; AR; Definitive).
[ ] CTSK — HGNC:2536; pycnodysostosis (MONDO:0009940; AR; Definitive).
[ ] CUL3 — HGNC:2553; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); pseudohypoaldosteronism type 2E (MONDO:0013782; AD; Definitive).
[ ] CUL4B — HGNC:2555; X-linked intellectual disability, Cabezas type (MONDO:0010306; XL; Definitive).
[ ] CWC27 — HGNC:10664; metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (MONDO:0009598; AR; Definitive).
[ ] CWF19L1 — HGNC:25613; autosomal recessive cerebellar ataxia (MONDO:0015244; AR; Definitive).
[ ] CXCR4 — HGNC:2561; WHIM syndrome (MONDO:0023880; AD; Definitive).
[ ] CYB5A — HGNC:2570; methemoglobinemia type 4 (MONDO:0009605; AR; Definitive).
[ ] CYB5R3 — HGNC:2873; methemoglobinemia due to deficiency of methemoglobin reductase (MONDO:0009606; AR; Definitive).
[ ] CYFIP2 — HGNC:13760; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] CYLD — HGNC:2584; Brooke-Spiegler syndrome (MONDO:0011512; AD; Definitive); frontotemporal dementia and/or amyotrophic lateral sclerosis 8 (MONDO:0030872; AD; Limited).
[ ] CYP11B2 — HGNC:2592; familial hyperreninemic hypoaldosteronism type 2 (MONDO:0011754; AR; Definitive).
[ ] CYP1B1 — HGNC:2597; CYP1B1-related glaucoma with or without anterior segment dysgenesis (MONDO:0800472; AR; Definitive).
[ ] CYP27A1 — HGNC:2605; cerebrotendinous xanthomatosis (MONDO:0008948; AR; Definitive).
[ ] CYP27B1 — HGNC:2606; vitamin D-dependent rickets, type 1A (MONDO:0020723; AR; Definitive).
[ ] CYP2U1 — HGNC:20582; hereditary spastic paraplegia (MONDO:0019064; AR; Definitive).
[ ] CYP4V2 — HGNC:23198; Bietti crystalline corneoretinal dystrophy (MONDO:0008865; AR; Definitive).
[ ] CYP7B1 — HGNC:2652; CYP7B1-related disorder of oxysterol accumulation (MONDO:1060107; AR; Definitive).
[ ] D2HGDH — HGNC:28358; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] DAG1 — HGNC:2666; neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan (MONDO:0018282; AR; Definitive).
[ ] DARS2 — HGNC:25538; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] DBT — HGNC:2698; maple syrup urine disease (MONDO:0009563; AR; Definitive).
[ ] DCAF17 — HGNC:25784; Woodhouse-Sakati syndrome (MONDO:0009419; AR; Definitive).
[ ] DCC — HGNC:2701; mirror movements 1 and/or agenesis of the corpus callosum (MONDO:0100515; AD; Definitive).
[ ] DCDC2 — HGNC:18141; ciliopathy (MONDO:0005308; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] DCLRE1C — HGNC:17642; severe combined immunodeficiency due to DCLRE1C deficiency (MONDO:0011225; AR; Definitive).
[ ] DCX — HGNC:2714; lissencephaly spectrum disorders (MONDO:0018838; XL; Definitive).
[ ] DDB2 — HGNC:2718; xeroderma pigmentosum group E (MONDO:0010213; AR; Definitive).
[ ] DDC — HGNC:2719; aromatic L-amino acid decarboxylase deficiency (MONDO:0012084; AR; Definitive).
[ ] DDHD1 — HGNC:19714; hereditary spastic paraplegia (MONDO:0019064; AR; Definitive).
[ ] DDR2 — HGNC:2731; spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (MONDO:0010077; AR; Definitive); warburg-cinotti syndrome (MONDO:0032579; AD; Moderate).
[ ] DDX11 — HGNC:2736; Warsaw breakage syndrome (MONDO:0013252; AR; Definitive).
[ ] DDX3X — HGNC:2745; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] DDX41 — HGNC:18674; DDX41-related hematologic malignancy predisposition syndrome (MONDO:0014809; AD; Definitive).
[ ] DEGS1 — HGNC:13709; leukodystrophy, hypomyelinating, 18 (MONDO:0032730; AR; Definitive).
[ ] DEPDC5 — HGNC:18423; focal epilepsy (MONDO:0005384; AD; Definitive).
[ ] DES — HGNC:2770; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Moderate); dilated cardiomyopathy 1I (MONDO:0011482; AD; Definitive).
[ ] DGKE — HGNC:2852; atypical hemolytic-uremic syndrome with DGKE deficiency (MONDO:0018159; AR; Definitive); membranoproliferative glomerulonephritis (MONDO:0002461; AR; Definitive).
[ ] DGUOK — HGNC:2858; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] DHCR24 — HGNC:2859; desmosterolosis (MONDO:0011217; AR; Definitive).
[ ] DHCR7 — HGNC:2860; Smith-Lemli-Opitz syndrome (MONDO:0010035; AR; Definitive).
[ ] DHDDS — HGNC:20603; DHDDS-CDG (MONDO:1040054; AR; Definitive).
[ ] DHODH — HGNC:2867; postaxial acrofacial dysostosis (MONDO:0009903; AR; Definitive).
[ ] DHTKD1 — HGNC:23537; 2-aminoadipic 2-oxoadipic aciduria (MONDO:0008774; AR; Definitive).
[ ] DHX30 — HGNC:16716; neurodevelopmental disorder with severe motor impairment and absent language (MONDO:0060622; AD; Definitive).
[ ] DIAPH1 — HGNC:2876; DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome (MONDO:0044635; AD; Definitive); progressive microcephaly-seizures-cortical blindness-developmental delay syndrome (MONDO:0014714; AR; Definitive).
[ ] DICER1 — HGNC:17098; DICER1-related tumor predisposition (MONDO:0100216; AD; Definitive).
[ ] DIS3L2 — HGNC:28648; Perlman syndrome (MONDO:0009965; AR; Definitive).
[ ] DKC1 — HGNC:2890; DKC1-related disorder (MONDO:0100152; XL; Definitive); dyskeratosis congenita, X-linked (MONDO:0010584; XL; Definitive).
[ ] DLD — HGNC:2898; Leigh syndrome (MONDO:0009723; AR; Definitive); pyruvate dehydrogenase E3 deficiency (MONDO:0009529; AR; Definitive).
[ ] DLG3 — HGNC:2902; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Definitive).
[ ] DLG4 — HGNC:2903; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] DLL1 — HGNC:2908; neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures (MONDO:0032877; AD; Definitive).
[ ] DMD — HGNC:2928; progressive muscular dystrophy (MONDO:0016106; XL; Definitive).
[ ] DMRT1 — HGNC:2934; 46 XY differences of sex development (MONDO:0020040; AD; Definitive); spermatogenic failure (MONDO:0004983; AD; Definitive).
[ ] DNAAF1 — HGNC:30539; primary ciliary dyskinesia 13 (MONDO:0013174; AR; Definitive).
[ ] DNAAF11 — HGNC:16725; primary ciliary dyskinesia 19 (MONDO:0013979; AR; Definitive).
[ ] DNAAF19 — HGNC:32700; primary ciliary dyskinesia 17 (MONDO:0013854; AR; Definitive).
[ ] DNAAF2 — HGNC:20188; primary ciliary dyskinesia 10 (MONDO:0012918; AR; Definitive).
[ ] DNAAF3 — HGNC:30492; primary ciliary dyskinesia 2 (MONDO:0011718; AR; Definitive).
[ ] DNAAF4 — HGNC:21493; primary ciliary dyskinesia 25 (MONDO:0014203; AR; Definitive).
[ ] DNAAF5 — HGNC:26013; primary ciliary dyskinesia 18 (MONDO:0013940; AR; Definitive).
[ ] DNAAF6 — HGNC:28570; ciliary dyskinesia, primary, 36, X-linked (MONDO:0010517; XL; Definitive).
[ ] DNAH1 — HGNC:2940; primary ciliary dyskinesia (MONDO:0016575; AR; Limited); spermatogenic failure 18 (MONDO:0054615; AR; Definitive).
[ ] DNAH11 — HGNC:2942; primary ciliary dyskinesia 7 (MONDO:0012748; AR; Definitive).
[ ] DNAH12 — HGNC:2943; spermatogenic failure (MONDO:0004983; AR; Definitive).
[ ] DNAH17 — HGNC:2946; spermatogenic failure 39 (MONDO:0032845; AR; Definitive).
[ ] DNAH5 — HGNC:2950; primary ciliary dyskinesia 3 (MONDO:0012085; AR; Definitive).
[ ] DNAH9 — HGNC:2953; ciliary dyskinesia, primary, 40 (MONDO:0032664; AR; Definitive).
[ ] DNAI1 — HGNC:2954; primary ciliary dyskinesia 1 (MONDO:0009484; AR; Definitive).
[ ] DNAI2 — HGNC:18744; primary ciliary dyskinesia 9 (MONDO:0012906; AR; Definitive).
[ ] DNAJB11 — HGNC:14889; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Definitive); ciliopathy (MONDO:0005308; AR; Limited).
[ ] DNAJB2 — HGNC:5228; neuronopathy, distal hereditary motor, autosomal recessive 5 (MONDO:0013947; AR; Definitive).
[ ] DNAJB6 — HGNC:14888; muscular dystrophy, limb-girdle, autosomal dominant (MONDO:0015151; AD; Definitive).
[ ] DNAJC12 — HGNC:28908; hyperphenylalaninemia due to DNAJC12 deficiency (MONDO:0044304; AR; Definitive).
[ ] DNAJC19 — HGNC:30528; 3-methylglutaconic aciduria type 5 (MONDO:0012435; AR; Definitive).
[ ] DNAJC21 — HGNC:27030; bone marrow failure syndrome 3 (MONDO:0014887; AR; Definitive).
[ ] DNAJC30 — HGNC:16410; Leber-like hereditary optic neuropathy, autosomal recessive 1 (MONDO:0958183; AR; Definitive).
[ ] DNAL1 — HGNC:23247; primary ciliary dyskinesia 16 (MONDO:0013525; AR; Definitive).
[ ] DNASE1L3 — HGNC:2959; autosomal systemic lupus erythematosus type 16 (MONDO:0013743; AR; Definitive).
[ ] DNM1 — HGNC:2972; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Moderate).
[ ] DNM1L — HGNC:2973; Leigh syndrome (MONDO:0009723; AD; Limited); Leigh syndrome (MONDO:0009723; AR; Limited); encephalopathy due to mitochondrial and peroxisomal fission defect (MONDO:0054865; AD; Definitive).
[ ] DNM2 — HGNC:2974; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Definitive); autosomal dominant centronuclear myopathy (MONDO:0008048; AD; Definitive).
[ ] DNMT1 — HGNC:2976; autosomal dominant cerebellar ataxia, deafness and narcolepsy (MONDO:0011397; AD; Definitive).
[ ] DNMT3A — HGNC:2978; Heyn-Sproul-Jackson syndrome (MONDO:0032882; AD; Limited); Tatton-Brown-Rahman overgrowth syndrome (MONDO:0014382; AD; Definitive).
[ ] DNMT3B — HGNC:2979; immunodeficiency-centromeric instability-facial anomalies syndrome 1 (MONDO:0009454; AR; Definitive).
[ ] DOCK2 — HGNC:2988; DOCK2 deficiency (MONDO:0014637; AR; Definitive).
[ ] DOCK6 — HGNC:19189; Adams-Oliver syndrome (MONDO:0007034; AR; Definitive).
[ ] DOCK7 — HGNC:19190; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] DOCK8 — HGNC:19191; combined immunodeficiency due to DOCK8 deficiency (MONDO:0009478; AR; Definitive).
[ ] DOK7 — HGNC:26594; congenital myasthenic syndrome 10 (MONDO:0009690; AR; Definitive).
[ ] DOLK — HGNC:23406; DK1-congenital disorder of glycosylation (MONDO:0012556; AR; Definitive).
[ ] DPAGT1 — HGNC:2995; DPAGT1-congenital disorder of glycosylation (MONDO:0011964; AR; Definitive).
[ ] DPF2 — HGNC:9964; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] DPH1 — HGNC:3003; developmental delay with short stature, dysmorphic facial features, and sparse hair (MONDO:0031632; AR; Definitive).
[ ] DPM1 — HGNC:3005; congenital disorder of glycosylation type 1E (MONDO:0012123; AR; Definitive).
[ ] DPY19L2 — HGNC:19414; male infertility due to globozoospermia (MONDO:0015746; AR; Definitive).
[ ] DRC1 — HGNC:24245; primary ciliary dyskinesia 21 (MONDO:0014123; AR; Definitive).
[ ] DRC2 — HGNC:29937; primary ciliary dyskinesia 27 (MONDO:0014215; AR; Definitive).
[ ] DRC4 — HGNC:4166; primary ciliary dyskinesia 33 (MONDO:0014750; AR; Definitive).
[ ] DSC2 — HGNC:3036; familial isolated arrhythmogenic right ventricular dysplasia (MONDO:0016342; AD; Definitive).
[ ] DSE — HGNC:21144; Ehlers-Danlos syndrome, musculocontractural type 2 (MONDO:0014236; AR; Definitive).
[ ] DSG2 — HGNC:3049; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Definitive); dilated cardiomyopathy 1BB (MONDO:0013030; AD; Limited).
[ ] DSP — HGNC:3052; arrhythmogenic cardiomyopathy with wooly hair and keratoderma (MONDO:0011581; AD; Definitive).
[ ] DSPP — HGNC:3054; dentinogenesis imperfecta (MONDO:0018849; AD; Definitive).
[ ] DST — HGNC:1090; hereditary sensory and autonomic neuropathy type 6 (MONDO:0013839; AR; Definitive).
[ ] DTNBP1 — HGNC:17328; Hermansky-Pudlak syndrome 7 (MONDO:0013559; AR; Definitive).
[ ] DYNC1H1 — HGNC:2961; distal hereditary motor neuropathy (MONDO:0018894; AD; Definitive).
[ ] DYNC2H1 — HGNC:2962; asphyxiating thoracic dystrophy 3 (MONDO:0013127; AR; Definitive).
[ ] DYNC2I1 — HGNC:21862; short-rib thoracic dysplasia 8 with or without polydactyly (MONDO:0014214; AR; Definitive).
[ ] DYNC2I2 — HGNC:28296; short-rib thoracic dysplasia 11 with or without polydactyly (MONDO:0014287; AR; Definitive).
[ ] DYRK1A — HGNC:3091; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] DYSF — HGNC:3097; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] DZIP1L — HGNC:26551; autosomal recessive polycystic kidney disease (MONDO:0009889; AR; Definitive).
[ ] EARS2 — HGNC:29419; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] EBF3 — HGNC:19087; hypotonia, ataxia, and delayed development syndrome (MONDO:0015021; AD; Definitive).
[ ] EBP — HGNC:3133; MEND syndrome (MONDO:0010498; XL; Definitive).
[ ] ECHS1 — HGNC:3151; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency (MONDO:0014563; AR; Definitive).
[ ] EDAR — HGNC:2895; ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (MONDO:0009147; AR; Definitive).
[ ] EEF1A2 — HGNC:3192; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] EFEMP1 — HGNC:3218; Doyne honeycomb retinal dystrophy (MONDO:0007471; AD; Definitive); open-angle glaucoma (MONDO:0005338; AD; Moderate).
[ ] EFEMP2 — HGNC:3219; cutis laxa, autosomal recessive, type 1B (MONDO:0013754; AR; Definitive).
[ ] EFL1 — HGNC:25789; Shwachman-Diamond syndrome 2 (MONDO:0044205; AR; Definitive).
[ ] EFNB1 — HGNC:3226; craniofrontonasal syndrome (MONDO:0010570; XL; Definitive).
[ ] EFTUD2 — HGNC:30858; mandibulofacial dysostosis-microcephaly syndrome (MONDO:0012516; AD; Definitive).
[ ] EGFR — HGNC:3236; non-small cell lung carcinoma (MONDO:0005233; AD; Definitive).
[ ] EGLN1 — HGNC:1232; EGLN1-related erythrocytosis and pheochromocytoma/paraganglioma predisposition (MONDO:1060184; AD; Definitive).
[ ] EGR2 — HGNC:3239; Charcot-Marie-Tooth disease (MONDO:0015626; SD; Definitive).
[ ] EHMT1 — HGNC:24650; Kleefstra syndrome (MONDO:0012455; AD; Definitive).
[ ] EIF2AK4 — HGNC:19687; pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis (MONDO:0018554; AR; Definitive).
[ ] EIF2B1 — HGNC:3257; leukoencephalopathy with vanishing white matter 1 (MONDO:0020507; AR; Definitive).
[ ] EIF2B2 — HGNC:3258; leukoencephalopathy with vanishing white matter 2 (MONDO:0957870; AR; Definitive).
[ ] EIF2B3 — HGNC:3259; leukoencephalopathy with vanishing white matter 3 (MONDO:0957871; AR; Definitive).
[ ] EIF2B4 — HGNC:3260; leukoencephalopathy with vanishing white matter 4 (MONDO:0957872; AR; Definitive).
[ ] EIF2B5 — HGNC:3261; leukoencephalopathy with vanishing white matter 5 (MONDO:0957873; AR; Definitive).
[ ] EIF2S3 — HGNC:3267; MEHMO syndrome (MONDO:0010258; XL; Definitive).
[ ] EIF3F — HGNC:3275; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] ELAC2 — HGNC:14198; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] ELANE — HGNC:3309; neutropenia (MONDO:0001475; AD; Definitive).
[ ] ELF4 — HGNC:3319; autoinflammatory syndrome, familial, X-linked, Behcet-like 2 (MONDO:0024770; XL; Definitive).
[ ] ELN — HGNC:3327; cutis laxa, autosomal dominant 1 (MONDO:0007411; AD; Definitive).
[ ] ELOVL4 — HGNC:14415; ELOVL4-related maculopathy (MONDO:0700227; AD; Definitive).
[ ] ELP2 — HGNC:18248; complex neurodevelopmental disorder with motor features (MONDO:0100516; AR; Definitive).
[ ] EMILIN1 — HGNC:19880; arterial tortuosity-bone fragility syndrome (MONDO:0971179; AR; Definitive).
[ ] EML1 — HGNC:3330; band heterotopia of brain (MONDO:0010873; AR; Definitive).
[ ] ENG — HGNC:3349; juvenile polyposis syndrome (MONDO:0017380; AD; Limited); telangiectasia, hereditary hemorrhagic, type 1 (MONDO:0008535; AD; Definitive).
[ ] ENPP1 — HGNC:3356; arterial calcification, generalized, of infancy, 1 (MONDO:0008817; AR; Definitive); hypopigmentation-punctate palmoplantar keratoderma syndrome (MONDO:0014227; AD; Limited).
[ ] ENTPD1 — HGNC:3363; complex hereditary spastic paraplegia (MONDO:0015150; AR; Definitive).
[ ] EOGT — HGNC:28526; Adams-Oliver syndrome 4 (MONDO:0014124; AR; Definitive).
[ ] EP300 — HGNC:3373; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (MONDO:0013364; AD; Definitive).
[ ] EPCAM — HGNC:11529; Lynch syndrome (MONDO:0005835; AD; Definitive).
[ ] EPG5 — HGNC:29331; Vici syndrome (MONDO:0009452; AR; Definitive).
[ ] EPHB4 — HGNC:3395; EPHB4-associated vascular malformation spectrum (MONDO:0700080; AD; Definitive).
[ ] EPM2A — HGNC:3413; Lafora disease (MONDO:0009697; AR; Definitive).
[ ] ERCC2 — HGNC:3434; xeroderma pigmentosum group D (MONDO:0010212; AR; Definitive).
[ ] ERCC3 — HGNC:3435; xeroderma pigmentosum group B (MONDO:0012531; AR; Definitive).
[ ] ERCC4 — HGNC:3436; xeroderma pigmentosum group F (MONDO:0010215; AR; Definitive).
[ ] ERCC5 — HGNC:3437; xeroderma pigmentosum group G (MONDO:0010216; AR; Definitive).
[ ] ERCC6 — HGNC:3438; Cockayne spectrum with or without cerebrooculofacioskeletal syndrome (MONDO:0100506; AR; Definitive).
[ ] ERCC6L2 — HGNC:26922; bone marrow failure syndrome (MONDO:0000159; AR; Definitive).
[ ] ERCC8 — HGNC:3439; Cockayne syndrome type 1 (MONDO:0019569; AR; Definitive).
[ ] ERF — HGNC:3444; craniosynostosis 4 (MONDO:0010929; AD; Definitive).
[ ] ERLIN1 — HGNC:16947; hereditary spastic paraplegia 62 (MONDO:0014302; AR; Definitive).
[ ] ERLIN2 — HGNC:1356; hereditary spastic paraplegia 18 (MONDO:0012639; AD; Limited); hereditary spastic paraplegia 18 (MONDO:0012639; AR; Definitive).
[ ] ESCO2 — HGNC:27230; Roberts-SC phocomelia syndrome (MONDO:0100253; AR; Definitive).
[ ] ESPN — HGNC:13281; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] ESRRB — HGNC:3473; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] ETFA — HGNC:3481; multiple acyl-CoA dehydrogenase deficiency (MONDO:0009282; AR; Definitive).
[ ] ETFB — HGNC:3482; multiple acyl-CoA dehydrogenase deficiency (MONDO:0009282; AR; Definitive).
[ ] ETFDH — HGNC:3483; multiple acyl-CoA dehydrogenase deficiency (MONDO:0009282; AR; Definitive).
[ ] ETHE1 — HGNC:23287; Leigh syndrome (MONDO:0009723; AR; Definitive).
[ ] ETV6 — HGNC:3495; thrombocytopenia 5 (MONDO:0014536; AD; Definitive).
[ ] EVC — HGNC:3497; Ellis-van Creveld syndrome (MONDO:0009162; AR; Definitive).
[ ] EVC2 — HGNC:19747; Ellis-van Creveld syndrome (MONDO:0009162; AR; Definitive); acrofacial dysostosis, Weyers type (MONDO:0008673; AD; Definitive).
[ ] EXOC6B — HGNC:17085; spondyloepimetaphyseal dysplasia with joint laxity, type 3 (MONDO:0032724; AR; Definitive).
[ ] EXT1 — HGNC:3512; exostoses, multiple, type 1 (MONDO:0007585; AD; Definitive).
[ ] EXT2 — HGNC:3513; exostoses, multiple, type 2 (MONDO:0007586; AD; Definitive).
[ ] EYA1 — HGNC:3519; branchio-oto-renal syndrome (MONDO:0007029; AD; Definitive).
[ ] EYA4 — HGNC:3522; dilated cardiomyopathy 1J (MONDO:0011541; AD; Limited); nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] EYS — HGNC:21555; EYS-related retinopathy (MONDO:0800391; AR; Definitive).
[ ] EZH2 — HGNC:3527; Weaver syndrome (MONDO:0010193; AD; Definitive).
[ ] F10 — HGNC:3528; congenital factor X deficiency (MONDO:0009212; AR; Definitive).
[ ] F11 — HGNC:3529; congenital factor XI deficiency (MONDO:0012897; SD; Definitive).
[ ] F12 — HGNC:3530; congenital factor XII deficiency (MONDO:0009315; AR; Definitive); hereditary angioedema type 3 (MONDO:0012526; AD; Definitive).
[ ] F13A1 — HGNC:3531; factor XIII, A subunit, deficiency of (MONDO:0013187; AR; Definitive).
[ ] F13B — HGNC:3534; factor XIII, b subunit, deficiency of (MONDO:0013190; AR; Definitive).
[ ] F2 — HGNC:3535; congenital prothrombin deficiency (MONDO:0013361; AR; Definitive); thrombophilia due to thrombin defect (MONDO:0008559; AD; Definitive).
[ ] F5 — HGNC:3542; congenital factor V deficiency (MONDO:0009210; AR; Definitive); thrombophilia due to activated protein C resistance (MONDO:0008560; AD; Definitive).
[ ] F7 — HGNC:3544; factor VII deficiency (MONDO:0002244; AR; Definitive).
[ ] F8 — HGNC:3546; hemophilia A (MONDO:0010602; XL; Definitive).
[ ] F9 — HGNC:3551; hemophilia B (MONDO:0010604; XL; Definitive); thrombophilia, X-linked, due to factor 9 defect (MONDO:0010432; XL; Limited).
[ ] FA2H — HGNC:21197; hereditary spastic paraplegia 35 (MONDO:0012866; AR; Definitive).
[ ] FAH — HGNC:3579; tyrosinemia type I (MONDO:0010161; AR; Definitive).
[ ] FAM111A — HGNC:24725; FAM111A-related skeletal dysplasia (MONDO:1060172; AD; Definitive).
[ ] FAM20C — HGNC:22140; lethal osteosclerotic bone dysplasia (MONDO:0009821; AR; Definitive).
[ ] FAN1 — HGNC:29170; hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited); karyomegalic interstitial nephritis (MONDO:0013898; AR; Definitive).
[ ] FANCA — HGNC:3582; Fanconi anemia complementation group A (MONDO:0009215; AR; Definitive).
[ ] FANCB — HGNC:3583; Fanconi anemia complementation group B (MONDO:0010351; XL; Definitive).
[ ] FANCC — HGNC:3584; Fanconi anemia complementation group C (MONDO:0009213; AR; Definitive).
[ ] FANCD2 — HGNC:3585; Fanconi anemia complementation group D2 (MONDO:0009214; AR; Definitive).
[ ] FANCE — HGNC:3586; Fanconi anemia complementation group E (MONDO:0010953; AR; Definitive).
[ ] FANCF — HGNC:3587; Fanconi anemia complementation group F (MONDO:0011325; AR; Definitive).
[ ] FANCG — HGNC:3588; Fanconi anemia complementation group G (MONDO:0013565; AR; Definitive).
[ ] FANCI — HGNC:25568; Fanconi anemia complementation group I (MONDO:0012186; AR; Definitive).
[ ] FANCL — HGNC:20748; Fanconi anemia complementation group L (MONDO:0013566; AR; Definitive).
[ ] FANCM — HGNC:23168; FANCM Fanconi-like genomic instability disorder (MONDO:0100578; AR; Definitive); hereditary breast carcinoma (MONDO:0016419; AD; Limited).
[ ] FARS2 — HGNC:21062; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] FAS — HGNC:11920; FAS-related autoimmune lymphoproliferative immune disorder (MONDO:1060194; SD; Definitive).
[ ] FASLG — HGNC:11936; autoimmune lymphoproliferative syndrome type 1 (MONDO:0011158; AR; Definitive).
[ ] FASTKD2 — HGNC:29160; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] FAT4 — HGNC:23109; FAT4-related neurodevelopmental disorder (MONDO:0100603; AR; Definitive).
[ ] FBN1 — HGNC:3603; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Definitive).
[ ] FBN2 — HGNC:3604; congenital contractural arachnodactyly (MONDO:0007363; AD; Definitive).
[ ] FBP1 — HGNC:3606; fructose-1,6-bisphosphatase deficiency (MONDO:0009251; AR; Definitive).
[ ] FBXL4 — HGNC:13601; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] FCHO1 — HGNC:29002; immunodeficiency 76 (MONDO:0030898; AR; Definitive).
[ ] FDXR — HGNC:3642; FDXR-related optic atrophy mitochondrial dysfunction syndrome (MONDO:1060116; AR; Definitive).
[ ] FECH — HGNC:3647; protoporphyria, erythropoietic, 1 (MONDO:0008319; AR; Definitive).
[ ] FERMT1 — HGNC:15889; Kindler syndrome (MONDO:0008260; AR; Definitive).
[ ] FERMT3 — HGNC:23151; leukocyte adhesion deficiency 3 (MONDO:0013016; AR; Definitive).
[ ] FGA — HGNC:3661; congenital fibrinogen deficiency (MONDO:0018060; SD; Definitive).
[ ] FGB — HGNC:3662; congenital fibrinogen deficiency (MONDO:0018060; SD; Definitive).
[ ] FGD1 — HGNC:3663; Aarskog-Scott syndrome, X-linked (MONDO:0010589; XL; Definitive).
[ ] FGD4 — HGNC:19125; Charcot-Marie-Tooth disease (MONDO:0015626; AR; Definitive).
[ ] FGF12 — HGNC:3668; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] FGF3 — HGNC:3681; deafness with labyrinthine aplasia, microtia, and microdontia (MONDO:0012541; AR; Definitive).
[ ] FGF9 — HGNC:3687; multiple synostoses syndrome (MONDO:0017923; AD; Definitive).
[ ] FGFR1 — HGNC:3688; Hartsfield-Bixler-Demyer syndrome (MONDO:0014196; AD; Moderate); Pfeiffer syndrome type 1 (MONDO:0019659; AD; Definitive); osteoglophonic dysplasia (MONDO:0008150; AD; Limited).
[ ] FGFR2 — HGNC:3689; Apert syndrome (MONDO:0007041; AD; Definitive); Beare-Stevenson cutis gyrata syndrome (MONDO:0007412; AD; Definitive); Crouzon syndrome (MONDO:0007405; AD; Definitive); LADD syndrome (MONDO:0007872; AD; Limited); Pfeiffer syndrome (MONDO:0007043; AD; Definitive); bent bone dysplasia syndrome 1 (MONDO:0013815; AD; Definitive).
[ ] FGFR3 — HGNC:3690; Crouzon syndrome-acanthosis nigricans syndrome (MONDO:0012833; AD; Definitive); Muenke syndrome (MONDO:0011274; AD; Definitive); achondroplasia (MONDO:0007037; AD; Definitive); camptodactyly-tall stature-scoliosis-hearing loss syndrome (MONDO:0012504; SD; Moderate); hypochondroplasia (MONDO:0007793; AD; Definitive); severe achondroplasia-developmental delay-acanthosis nigricans syndrome (MONDO:0014658; AD; Moderate); thanatophoric dysplasia (MONDO:0017042; AD; Definitive).
[ ] FGG — HGNC:3694; congenital fibrinogen deficiency (MONDO:0018060; SD; Definitive).
[ ] FH — HGNC:3700; hereditary leiomyomatosis and renal cell cancer (MONDO:0007888; AD; Definitive).
[ ] FHOD3 — HGNC:26178; hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] FIG4 — HGNC:16873; Charcot-Marie-Tooth disease (MONDO:0015626; AR; Definitive); amyotrophic lateral sclerosis type 11 (MONDO:0012945; AD; Limited).
[ ] FITM2 — HGNC:16135; Siddiqi syndrome (MONDO:0032842; AR; Definitive).
[ ] FKRP — HGNC:17997; myopathy caused by variation in FKRP (MONDO:0700066; AR; Definitive).
[ ] FKTN — HGNC:3622; myopathy caused by variation in FKTN (MONDO:0700067; AR; Definitive).
[ ] FLAD1 — HGNC:24671; myopathy with abnormal lipid metabolism (MONDO:0009703; AR; Definitive).
[ ] FLCN — HGNC:27310; obsolete Birt-Hogg-Dube syndrome (MONDO:0007607; AD; Definitive).
[ ] FLNA — HGNC:3754; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; XL; Limited); periventricular nodular heterotopia (MONDO:0020341; XL; Definitive).
[ ] FLNB — HGNC:3755; FLNB-associated autosomal dominant filamin related bone disorder (MONDO:1060173; AD; Definitive).
[ ] FLNC — HGNC:3756; dilated cardiomyopathy (MONDO:0005021; AD; Definitive); myofibrillar myopathy (MONDO:0018943; AD; Definitive).
[ ] FLT4 — HGNC:3767; congenital heart defects, multiple types, 7 (MONDO:0032913; AD; Definitive); lymphatic malformation 1 (MONDO:0007919; AD; Definitive).
[ ] FLVCR1 — HGNC:24682; FLVCR1-related retinopathy with or without ataxia (MONDO:0100449; AR; Definitive).
[ ] FLVCR2 — HGNC:20105; Fowler syndrome (MONDO:0009168; AR; Definitive).
[ ] FMO3 — HGNC:3771; trimethylaminuria (MONDO:0011182; AR; Definitive).
[ ] FMR1 — HGNC:3775; fragile X syndrome (MONDO:0010383; XL; Definitive).
[ ] FN1 — HGNC:3778; glomerulopathy with fibronectin deposits 2 (MONDO:0011165; AD; Moderate); spondylometaphyseal dysplasia, 'corner fracture' type (MONDO:0008479; AD; Definitive).
[ ] FNIP1 — HGNC:29418; FNIP1-associated syndrome (MONDO:0100432; AR; Definitive).
[ ] FOLR1 — HGNC:3791; neurodegenerative syndrome due to cerebral folate transport deficiency (MONDO:0013110; AR; Definitive).
[ ] FOXC1 — HGNC:3800; FOXC1-related anterior segment dysgenesis (MONDO:0100235; AD; Definitive).
[ ] FOXC2 — HGNC:3801; lymphedema-distichiasis syndrome (MONDO:0007922; AD; Definitive).
[ ] FOXE1 — HGNC:3806; Bamforth-Lazarus syndrome (MONDO:0009437; AR; Definitive).
[ ] FOXE3 — HGNC:3808; anterior segment dysgenesis (MONDO:0019503; SD; Definitive); familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Limited); familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Moderate).
[ ] FOXG1 — HGNC:3811; FOXG1 disorder (MONDO:0100040; AD; Definitive).
[ ] FOXJ1 — HGNC:3816; ciliary dyskinesia, primary, 43 (MONDO:0032874; AD; Definitive).
[ ] FOXN1 — HGNC:12765; T-cell immunodeficiency, congenital alopecia, and nail dystrophy (MONDO:0011132; SD; Definitive).
[ ] FOXP1 — HGNC:3823; intellectual disability-severe speech delay-mild dysmorphism syndrome (MONDO:0013352; AD; Definitive).
[ ] FOXP2 — HGNC:13875; specific language disorder (MONDO:0016226; AD; Definitive).
[ ] FOXP3 — HGNC:6106; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (MONDO:0010580; XL; Definitive).
[ ] FOXRED1 — HGNC:26927; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] FRAS1 — HGNC:19185; Fraser syndrome (MONDO:0009046; AR; Definitive).
[ ] FRMPD4 — HGNC:29007; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] FRRS1L — HGNC:1362; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] FTL — HGNC:3999; hereditary hyperferritinemia with congenital cataracts (MONDO:0010952; AD; Definitive); neuroferritinopathy (MONDO:0011638; AD; Definitive).
[ ] FTSJ1 — HGNC:13254; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] FUCA1 — HGNC:4006; fucosidosis (MONDO:0009254; AR; Definitive).
[ ] FUS — HGNC:4010; amyotrophic lateral sclerosis type 6 (MONDO:0011951; AD; Definitive).
[ ] FUT8 — HGNC:4019; congenital disorder of glycosylation with defective fucosylation 1 (MONDO:0020775; AR; Definitive).
[ ] FXN — HGNC:3951; Friedreich ataxia (MONDO:0100339; AR; Definitive).
[ ] FZD4 — HGNC:4042; FZD4-related exudative vitreoretinopathy (MONDO:1040041; AD; Definitive).
[ ] G6PC1 — HGNC:4056; glycogen storage disease I (MONDO:0002413; AR; Definitive).
[ ] G6PC3 — HGNC:24861; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency (MONDO:0012930; AR; Definitive).
[ ] G6PD — HGNC:4057; G6PD deficiency (MONDO:0005775; XL; Definitive); anemia, nonspherocytic hemolytic, due to G6PD deficiency (MONDO:0010480; XL; Definitive).
[ ] GAA — HGNC:4065; glycogen storage disease II (MONDO:0009290; AR; Definitive).
[ ] GABRA1 — HGNC:4075; epilepsy (MONDO:0005027; AD; Definitive).
[ ] GABRB2 — HGNC:4082; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GABRB3 — HGNC:4083; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] GABRG2 — HGNC:4087; epilepsy (MONDO:0005027; AD; Definitive).
[ ] GAD1 — HGNC:4092; obsolete early infantile epileptic encephalopathy (MONDO:0016021; AR; Definitive).
[ ] GALC — HGNC:4115; Krabbe disease (MONDO:0009499; AR; Definitive).
[ ] GALE — HGNC:4116; galactose epimerase deficiency (MONDO:0009257; AR; Definitive).
[ ] GALK1 — HGNC:4118; galactokinase deficiency (MONDO:0009255; AR; Definitive).
[ ] GALNS — HGNC:4122; mucopolysaccharidosis type 4A (MONDO:0009659; AR; Definitive).
[ ] GALNT3 — HGNC:4125; tumoral calcinosis, hyperphosphatemic, familial, 1 (MONDO:0100252; AR; Definitive).
[ ] GAMT — HGNC:4136; guanidinoacetate methyltransferase deficiency (MONDO:0012999; AR; Definitive).
[ ] GAN — HGNC:4137; giant axonal neuropathy 1 (MONDO:0009749; AR; Definitive).
[ ] GANAB — HGNC:4138; polycystic kidney disease 3 with or without polycystic liver disease (MONDO:0010916; AD; Definitive).
[ ] GARS1 — HGNC:4162; Charcot-Marie-Tooth disease type 2D (MONDO:0011091; AD; Definitive).
[ ] GATA1 — HGNC:4170; GATA1-Related X-Linked Cytopenia (MONDO:0100089; XL; Definitive).
[ ] GATA2 — HGNC:4171; GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982; AD; Definitive).
[ ] GATA3 — HGNC:4172; hypoparathyroidism-deafness-renal disease syndrome (MONDO:0007797; AD; Definitive).
[ ] GATA6 — HGNC:4174; GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes (MONDO:0100540; AD; Definitive); dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] GATAD2B — HGNC:30778; severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (MONDO:0014034; AD; Definitive).
[ ] GATM — HGNC:4175; AGAT deficiency (MONDO:0012996; AR; Definitive); Fanconi renotubular syndrome 1 (MONDO:0024525; AD; Moderate).
[ ] GBA1 — HGNC:4177; Gaucher disease (MONDO:0018150; AR; Definitive); Parkinson disease (MONDO:0005180; AD; Definitive).
[ ] GBA2 — HGNC:18986; complex hereditary spastic paraplegia (MONDO:0015150; AR; Definitive).
[ ] GBE1 — HGNC:4180; glycogen storage disease due to glycogen branching enzyme deficiency (MONDO:0009292; AR; Definitive).
[ ] GCDH — HGNC:4189; glutaryl-CoA dehydrogenase deficiency (MONDO:0009281; AR; Definitive).
[ ] GCH1 — HGNC:4193; GTP cyclohydrolase I deficiency (MONDO:0100184; SD; Definitive).
[ ] GCK — HGNC:4195; hyperinsulinism due to glucokinase deficiency (MONDO:0011236; AD; Definitive); monogenic diabetes (MONDO:0015967; SD; Definitive).
[ ] GCSH — HGNC:4208; multiple mitochondrial dysfunctions syndrome 7 (MONDO:0957382; AR; Definitive).
[ ] GDAP1 — HGNC:15968; Charcot-Marie-Tooth disease (MONDO:0015626; SD; Definitive).
[ ] GDF2 — HGNC:4217; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive); telangiectasia, hereditary hemorrhagic, type 5 (MONDO:0014217; AD; Moderate).
[ ] GEMIN5 — HGNC:20043; neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (MONDO:0859152; AR; Definitive).
[ ] GFAP — HGNC:4235; Alexander disease (MONDO:0008752; AD; Definitive).
[ ] GFER — HGNC:4236; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] GFI1B — HGNC:4238; platelet-type bleeding disorder 17 (MONDO:0008553; AD; Definitive).
[ ] GFPT1 — HGNC:4241; congenital myasthenic syndrome 12 (MONDO:0012518; AR; Definitive).
[ ] GGCX — HGNC:4247; pulmonary arterial hypertension (MONDO:0015924; AD; Moderate); vitamin K-dependent clotting factors, combined deficiency of, type 1 (MONDO:0010187; AR; Definitive).
[ ] GIGYF1 — HGNC:9126; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GIPC3 — HGNC:18183; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] GJB1 — HGNC:4283; Charcot-Marie-Tooth disease X-linked dominant 1 (MONDO:0010549; XL; Definitive).
[ ] GJB2 — HGNC:4284; hearing loss disorder (MONDO:0005365; AD; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] GJB3 — HGNC:4285; erythrokeratodermia variabilis (MONDO:0017851; AD; Definitive).
[ ] GJB6 — HGNC:4288; Clouston syndrome (MONDO:0007510; AD; Definitive).
[ ] GJC2 — HGNC:17494; hypomyelinating leukodystrophy 2 (MONDO:0012125; AR; Definitive).
[ ] GK — HGNC:4289; inborn glycerol kinase deficiency (MONDO:0010613; XL; Definitive).
[ ] GLA — HGNC:4296; Fabry disease (MONDO:0010526; XL; Definitive).
[ ] GLB1 — HGNC:4298; GM1 gangliosidosis (MONDO:0018149; AR; Definitive); mucopolysaccharidosis type 4B (MONDO:0009660; AR; Definitive).
[ ] GLDC — HGNC:4313; glycine encephalopathy (MONDO:0011612; AR; Definitive).
[ ] GLDN — HGNC:29514; lethal congenital contracture syndrome 11 (MONDO:0014965; AR; Definitive).
[ ] GLI3 — HGNC:4319; Greig cephalopolysyndactyly syndrome (MONDO:0008287; AD; Definitive).
[ ] GLS — HGNC:4331; glutaminase deficiency (MONDO:0600001; AR; Definitive); infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (MONDO:0032685; AD; Limited).
[ ] GLUD1 — HGNC:4335; hyperinsulinism-hyperammonemia syndrome (MONDO:0011717; AD; Definitive).
[ ] GM2A — HGNC:4367; Tay-Sachs disease AB variant (MONDO:0010099; AR; Definitive).
[ ] GMPPA — HGNC:22923; alacrima, achalasia, and intellectual disability syndrome (MONDO:0014219; AR; Definitive).
[ ] GMPPB — HGNC:22932; myopathy caused by variation in GMPPB (MONDO:0700084; AR; Definitive).
[ ] GNAI1 — HGNC:4384; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GNAO1 — HGNC:4389; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive); movement disorder (MONDO:0005395; AD; Definitive).
[ ] GNAT1 — HGNC:4393; inherited retinal dystrophy (MONDO:0019118; AD; Definitive); inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] GNAT2 — HGNC:4394; GNAT2-related retinopathy (MONDO:0800392; AR; Definitive).
[ ] GNB1 — HGNC:4396; intellectual disability, autosomal dominant 42 (MONDO:0014855; AD; Definitive).
[ ] GNE — HGNC:23657; thrombocytopenia 12 with or without myopathy (MONDO:0958325; AR; Definitive).
[ ] GNPAT — HGNC:4416; glyceronephosphate O-acyltransferase deficiency (MONDO:0100273; AR; Definitive).
[ ] GNPTAB — HGNC:29670; GNPTAB-mucolipidosis (MONDO:0100122; AR; Definitive).
[ ] GNPTG — HGNC:23026; GNPTG-mucolipidosis (MONDO:0009652; AR; Definitive).
[ ] GNS — HGNC:4422; mucopolysaccharidosis type 3D (MONDO:0009658; AR; Definitive).
[ ] GORAB — HGNC:25676; geroderma osteodysplastica (MONDO:0009271; AR; Definitive).
[ ] GOSR2 — HGNC:4431; progressive myoclonus epilepsy (MONDO:0020074; AR; Definitive).
[ ] GP1BA — HGNC:4439; Bernard-Soulier syndrome (MONDO:0009276; AR; Definitive); platelet-type von Willebrand disease (MONDO:0008332; AD; Definitive).
[ ] GP1BB — HGNC:4440; Bernard-Soulier syndrome (MONDO:0009276; AR; Definitive).
[ ] GP6 — HGNC:14388; platelet-type bleeding disorder 11 (MONDO:0013623; AR; Definitive).
[ ] GP9 — HGNC:4444; Bernard-Soulier syndrome (MONDO:0009276; AR; Definitive).
[ ] GPAA1 — HGNC:4446; glycosylphosphatidylinositol biosynthesis defect 15 (MONDO:0060627; AR; Definitive).
[ ] GPC3 — HGNC:4451; Simpson-Golabi-Behmel syndrome (MONDO:0010731; XL; Definitive).
[ ] GPR143 — HGNC:20145; GPR143-related foveal hypoplasia (MONDO:0700230; XL; Definitive).
[ ] GPR179 — HGNC:31371; GPR179-related retinopathy (MONDO:0800396; AR; Definitive).
[ ] GPSM2 — HGNC:29501; Chudley-McCullough syndrome (MONDO:0011411; AR; Definitive).
[ ] GPT2 — HGNC:18062; glutamate pyruvate transaminase 2 deficiency (MONDO:0014567; AR; Definitive).
[ ] GREM1 — HGNC:2001; hereditary mixed polyposis syndrome (MONDO:0011023; AD; Definitive).
[ ] GRHL2 — HGNC:2799; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] GRHL3 — HGNC:25839; GRHL3-related orofacial clefting (MONDO:0100579; AD; Definitive).
[ ] GRIA2 — HGNC:4572; neurodevelopmental disorder with language impairment and behavioral abnormalities (MONDO:0030060; AD; Definitive).
[ ] GRIA3 — HGNC:4573; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] GRIK2 — HGNC:4580; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] GRIN1 — HGNC:4584; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] GRIN2A — HGNC:4585; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GRIN2B — HGNC:4586; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GRIN2D — HGNC:4588; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] GRIP1 — HGNC:18708; Fraser syndrome 3 (MONDO:0054739; AR; Definitive).
[ ] GRK1 — HGNC:10013; Oguchi disease (MONDO:0019152; AR; Definitive).
[ ] GRM6 — HGNC:4598; GRM6-related retinopathy (MONDO:0800397; AR; Definitive).
[ ] GRN — HGNC:4601; frontotemporal dementia and/or amyotrophic lateral sclerosis (MONDO:0030923; AD; Definitive); neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] GRXCR1 — HGNC:31673; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] GSDME — HGNC:2810; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] GSS — HGNC:4624; inherited glutathione synthetase deficiency (MONDO:0017909; AR; Definitive).
[ ] GTPBP2 — HGNC:4670; Jaberi-Elahi syndrome (MONDO:0060711; AR; Definitive).
[ ] GTPBP3 — HGNC:14880; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] GUCA1A — HGNC:4678; cone dystrophy 3 (MONDO:0011193; AD; Definitive).
[ ] GUCY2D — HGNC:4689; GUCY2D-related dominant retinopathy (MONDO:0100441; AD; Definitive); GUCY2D-related recessive retinopathy (MONDO:0100453; AR; Definitive).
[ ] GUSB — HGNC:4696; mucopolysaccharidosis type 7 (MONDO:0009662; AR; Definitive).
[ ] GYG1 — HGNC:4699; polyglucosan body myopathy type 2 (MONDO:0014526; AR; Definitive).
[ ] GYS1 — HGNC:4706; glycogen storage disease due to muscle and heart glycogen synthase deficiency (MONDO:0012693; AR; Definitive).
[ ] GYS2 — HGNC:4707; glycogen storage disorder due to hepatic glycogen synthase deficiency (MONDO:0009414; AR; Definitive).
[ ] H1-4 — HGNC:4718; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] H3-3A — HGNC:4764; Bryant-Li-Bhoj neurodevelopmental syndrome 1 (MONDO:0030606; AD; Definitive).
[ ] HAAO — HGNC:4796; vertebral, cardiac, renal, and limb defects syndrome 1 (MONDO:0060554; AR; Definitive).
[ ] HACD1 — HGNC:9639; congenital myopathy (MONDO:0019952; AR; Definitive).
[ ] HADH — HGNC:4799; obsolete hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency (MONDO:0009278; AR; Definitive).
[ ] HADHA — HGNC:4801; long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (MONDO:0012173; AR; Definitive).
[ ] HADHB — HGNC:4803; mitochondrial trifunctional protein deficiency (MONDO:0012172; AR; Definitive).
[ ] HAMP — HGNC:15598; hemochromatosis type 2B (MONDO:0013220; AR; Definitive).
[ ] HBA1 — HGNC:4823; HBA1-related alpha thalassemia spectrum (MONDO:0100561; AR; Definitive); erythrocytosis, familial, 7 (MONDO:0054802; AD; Moderate); methemoglobinemia, alpha type (MONDO:0020835; AD; Limited); unstable hemoglobin disease (MONDO:0020459; AD; Moderate).
[ ] HBA2 — HGNC:4824; HBA2-related alpha thalassemia spectrum (MONDO:0100562; AR; Definitive); erythrocytosis, familial, 7 (MONDO:0054802; AD; Limited); methemoglobinemia, alpha type (MONDO:0020835; AD; Limited); unstable hemoglobin disease (MONDO:0020459; AD; Limited).
[ ] HBB — HGNC:4827; beta-thalassemia HBB/LCRB (MONDO:0013517; AR; Definitive); dominant beta-thalassemia (MONDO:0011381; AD; Definitive); erythrocytosis, familial, 6 (MONDO:0054801; AD; Definitive); hemoglobin M disease (MONDO:0018023; AD; Definitive); obsolete sickle cell disease and related diseases (MONDO:0017146; AR; Definitive); unstable hemoglobin disease (MONDO:0020459; AD; Definitive).
[ ] HCFC1 — HGNC:4839; X-linked intellectual disability (MONDO:0100284; XL; Definitive).
[ ] HCN1 — HGNC:4845; generalized epilepsy with febrile seizures plus (MONDO:0018214; AD; Definitive).
[ ] HCN2 — HGNC:4846; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive); epilepsy (MONDO:0005027; AD; Limited).
[ ] HCN4 — HGNC:16882; sick sinus syndrome 2, autosomal dominant (MONDO:0008102; AD; Definitive).
[ ] HDAC8 — HGNC:13315; Cornelia de Lange syndrome (MONDO:0016033; XL; Definitive).
[ ] HECW2 — HGNC:29853; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] HEPACAM — HGNC:26361; megalencephalic leukoencephalopathy with subcortical cysts 2A (MONDO:0013490; AR; Definitive); megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability (MONDO:0013491; AD; Definitive).
[ ] HEXA — HGNC:4878; Tay-Sachs disease (MONDO:0010100; AR; Definitive).
[ ] HEXB — HGNC:4879; Sandhoff disease (MONDO:0010006; AR; Definitive).
[ ] HFE — HGNC:4886; hemochromatosis type 1 (MONDO:0021001; AR; Definitive).
[ ] HGD — HGNC:4892; alkaptonuria (MONDO:0008753; AR; Definitive).
[ ] HGSNAT — HGNC:26527; inherited retinal dystrophy (MONDO:0019118; AR; Definitive); mucopolysaccharidosis type 3C (MONDO:0009657; AR; Definitive).
[ ] HIBCH — HGNC:4908; 3-hydroxyisobutyryl-CoA hydrolase deficiency (MONDO:0009603; AR; Definitive); Leigh syndrome (MONDO:0009723; AR; Definitive).
[ ] HIKESHI — HGNC:26938; hypomyelinating leukodystrophy 13 (MONDO:0014813; AR; Definitive).
[ ] HINT1 — HGNC:4912; Charcot-Marie-Tooth disease (MONDO:0015626; AR; Definitive).
[ ] HJV — HGNC:4887; hemochromatosis type 2A (MONDO:0011216; AR; Definitive).
[ ] HLCS — HGNC:4976; holocarboxylase synthetase deficiency (MONDO:0009666; AR; Definitive).
[ ] HMBS — HGNC:4982; acute intermittent porphyria (MONDO:0008294; SD; Definitive).
[ ] HMGA2 — HGNC:5009; Silver-Russell syndrome 5 (MONDO:0020795; AD; Definitive).
[ ] HMGCL — HGNC:5005; 3-hydroxy-3-methylglutaric aciduria (MONDO:0009520; AR; Definitive).
[ ] HMGCS2 — HGNC:5008; 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (MONDO:0011614; AR; Definitive).
[ ] HMX1 — HGNC:5017; oculoauricular syndrome (MONDO:0012802; AR; Definitive).
[ ] HNF1A — HGNC:11621; monogenic diabetes (MONDO:0015967; AD; Definitive).
[ ] HNF1B — HGNC:11630; renal cysts and diabetes syndrome (MONDO:0007669; AD; Definitive).
[ ] HNF4A — HGNC:5024; monogenic diabetes (MONDO:0015967; AD; Definitive).
[ ] HNRNPD — HGNC:5036; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] HNRNPDL — HGNC:5037; muscular dystrophy, limb-girdle, autosomal dominant (MONDO:0015151; AD; Definitive).
[ ] HNRNPH1 — HGNC:5041; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] HNRNPH2 — HGNC:5042; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] HNRNPK — HGNC:5044; neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (MONDO:0018681; AD; Definitive).
[ ] HNRNPR — HGNC:5047; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] HNRNPU — HGNC:5048; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] HOGA1 — HGNC:25155; primary hyperoxaluria type 3 (MONDO:0013327; AR; Definitive).
[ ] HOXA1 — HGNC:5099; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] HOXA13 — HGNC:5102; hand-foot-genital syndrome (MONDO:0007698; AD; Definitive).
[ ] HPCA — HGNC:5144; complex movement disorder with or without neurodevelopmental features (MONDO:1060159; AR; Definitive).
[ ] HPD — HGNC:5147; hawkinsinuria (MONDO:0007700; AD; Limited); tyrosinemia type III (MONDO:0010162; AR; Definitive).
[ ] HPRT1 — HGNC:5157; Lesch-Nyhan syndrome (MONDO:0010298; XL; Definitive).
[ ] HPS1 — HGNC:5163; Hermansky-Pudlak syndrome 1 (MONDO:0008748; AR; Definitive).
[ ] HPS3 — HGNC:15597; Hermansky-Pudlak syndrome 3 (MONDO:0013555; AR; Definitive).
[ ] HPS4 — HGNC:15844; Hermansky-Pudlak syndrome 4 (MONDO:0013556; AR; Definitive).
[ ] HPS5 — HGNC:17022; Hermansky-Pudlak syndrome 5 (MONDO:0013557; AR; Definitive).
[ ] HPS6 — HGNC:18817; Hermansky-Pudlak syndrome 6 (MONDO:0013558; AR; Definitive).
[ ] HRAS — HGNC:5173; Costello syndrome (MONDO:0009026; AD; Definitive).
[ ] HSD11B2 — HGNC:5209; apparent mineralocorticoid excess (MONDO:0009025; AR; Definitive).
[ ] HSD17B10 — HGNC:4800; HSD10 mitochondrial disease (MONDO:0010327; XL; Definitive).
[ ] HSD17B4 — HGNC:5213; Perrault syndrome (MONDO:0017312; AR; Definitive); d-bifunctional protein deficiency (MONDO:0009855; AR; Definitive).
[ ] HSD3B7 — HGNC:18324; congenital bile acid synthesis defect 1 (MONDO:0011906; AR; Definitive).
[ ] HSPB1 — HGNC:5246; Charcot-Marie-Tooth disease axonal type 2F (MONDO:0011687; AD; Definitive).
[ ] HSPB8 — HGNC:30171; neuronopathy, distal hereditary motor, autosomal dominant (MONDO:0015362; AD; Definitive).
[ ] HSPG2 — HGNC:5273; Schwartz-Jampel syndrome type 1 (MONDO:0100435; AR; Definitive); Silverman-Handmaker type dyssegmental dysplasia (MONDO:0009140; AR; Definitive).
[ ] HTRA2 — HGNC:14348; 3-methylglutaconic aciduria type 8 (MONDO:0044723; AR; Definitive).
[ ] HTT — HGNC:4851; Huntington disease (MONDO:0007739; AD; Definitive).
[ ] HUWE1 — HGNC:30892; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Definitive).
[ ] HYCC1 — HGNC:24587; hypomyelinating leukodystrophy 5 (MONDO:0012514; AR; Definitive).
[ ] HYDIN — HGNC:19368; primary ciliary dyskinesia 5 (MONDO:0012088; AR; Definitive).
[ ] IARS2 — HGNC:29685; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] IBA57 — HGNC:27302; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] ICOS — HGNC:5351; common variable immunodeficiency (MONDO:0015517; AR; Definitive).
[ ] IDH2 — HGNC:5383; mitochondrial disease (MONDO:0044970; AD; Definitive).
[ ] IDS — HGNC:5389; mucopolysaccharidosis type 2 (MONDO:0010674; XL; Definitive).
[ ] IDUA — HGNC:5391; mucopolysaccharidosis type 1 (MONDO:0001586; AR; Definitive).
[ ] IFIH1 — HGNC:18873; IFIH1-related type 1 interferonopathy (MONDO:0700262; AD; Definitive).
[ ] IFNAR1 — HGNC:5432; immunodeficiency 106, susceptibility to viral infections (MONDO:0030970; AR; Definitive).
[ ] IFNAR2 — HGNC:5433; immunodeficiency 45 (MONDO:0014727; AR; Definitive).
[ ] IFT122 — HGNC:13556; cranioectodermal dysplasia 1 (MONDO:0021093; AR; Definitive).
[ ] IFT140 — HGNC:29077; IFT140-related recessive ciliopathy (MONDO:0100509; AR; Definitive); autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Definitive).
[ ] IFT172 — HGNC:30391; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] IFT27 — HGNC:18626; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] IFT54 — HGNC:17861 (ClinGen source symbol: TRAF3IP1); ciliopathy (MONDO:0005308; AR; Definitive).
[ ] IFT74 — HGNC:21424; ciliopathy-IFT74 (MONDO:1060191; AR; Definitive).
[ ] IFT80 — HGNC:29262; asphyxiating thoracic dystrophy 2 (MONDO:0012644; AR; Definitive).
[ ] IGF2 — HGNC:5466; Silver-Russell syndrome 3 (MONDO:0014663; AD; Definitive).
[ ] IGHMBP2 — HGNC:5542; hereditary peripheral neuropathy (MONDO:0020127; AR; Definitive).
[ ] IKBKB — HGNC:5960; immunodeficiency 15a (MONDO:0032599; AD; Moderate); severe combined immunodeficiency due to IKK2 deficiency (MONDO:0014267; AR; Definitive).
[ ] IKBKG — HGNC:5961; IKBKG-related immunodeficiency with or without ectodermal dysplasia (MONDO:0100162; XL; Definitive); incontinentia pigmenti (MONDO:0010631; XL; Definitive).
[ ] IKZF1 — HGNC:13176; autoimmune disease (MONDO:0007179; AD; Moderate); pancytopenia due to IKZF1 mutations (MONDO:0014810; AD; Definitive).
[ ] IL10RA — HGNC:5964; inflammatory bowel disease 28 (MONDO:0013153; AR; Definitive).
[ ] IL10RB — HGNC:5965; inflammatory bowel disease 25 (MONDO:0012941; AR; Definitive).
[ ] IL11RA — HGNC:5967; craniosynostosis and dental anomalies (MONDO:0013615; AR; Definitive).
[ ] IL1RAPL1 — HGNC:5996; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] IL21R — HGNC:6006; immunodeficiency disease (MONDO:0021094; AR; Definitive).
[ ] IL2RA — HGNC:6008; immunodeficiency due to CD25 deficiency (MONDO:0011664; AR; Definitive).
[ ] IL2RG — HGNC:6010; T-B+ severe combined immunodeficiency due to gamma chain deficiency (MONDO:0010315; XL; Definitive).
[ ] IL7R — HGNC:6024; immunodeficiency 104 (MONDO:0012163; AR; Definitive).
[ ] ILDR1 — HGNC:28741; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] IMPDH1 — HGNC:6052; IMPDH1-related retinopathy (MONDO:1040051; AD; Definitive).
[ ] IMPG1 — HGNC:6055; IMPG1-related dominant retinopathy (MONDO:1040036; AD; Definitive); IMPG1-related recessive retinopathy (MONDO:1040037; AR; Definitive).
[ ] IMPG2 — HGNC:18362; IMPG2-related recessive retinopathy (MONDO:0700241; AR; Definitive).
[ ] INF2 — HGNC:23791; Charcot-Marie-Tooth disease dominant intermediate E (MONDO:0013758; AD; Definitive).
[ ] INPP5E — HGNC:21474; Joubert syndrome 1 (MONDO:0008944; AR; Definitive); MORM syndrome (MONDO:0012423; AR; Moderate).
[ ] INPPL1 — HGNC:6080; opsismodysplasia (MONDO:0009785; AR; Definitive).
[ ] INS — HGNC:6081; monogenic diabetes (MONDO:0015967; AD; Definitive); monogenic diabetes (MONDO:0015967; AR; Definitive).
[ ] INSR — HGNC:6091; Donohue syndrome (MONDO:0009517; AR; Definitive); insulin-resistance syndrome type A (MONDO:0012520; AD; Definitive).
[ ] INTU — HGNC:29239; INTU-related skeletal ciliopathy (MONDO:1060154; AR; Definitive).
[ ] INVS — HGNC:17870; nephronophthisis 2 (MONDO:0011190; AR; Definitive).
[ ] IQCB1 — HGNC:28949; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] IQSEC2 — HGNC:29059; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] IRF2BPL — HGNC:14282; neurodegenerative disease (MONDO:0005559; AD; Definitive).
[ ] IRF4 — HGNC:6119; combined immunodeficiency (MONDO:0015131; AD; Definitive).
[ ] IRF6 — HGNC:6121; IRF6-related condition (MONDO:1040010; AD; Definitive).
[ ] ISCA2 — HGNC:19857; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] ISCU — HGNC:29882; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] ISL1 — HGNC:6132; congenital heart disease (MONDO:0005453; AD; Definitive).
[ ] ITCH — HGNC:13890; syndromic multisystem autoimmune disease due to ITCH deficiency (MONDO:0013245; AR; Definitive).
[ ] ITGA2B — HGNC:6138; Glanzmann thrombasthenia (MONDO:0100326; AR; Definitive); platelet-type bleeding disorder 16 (MONDO:0008552; AD; Definitive).
[ ] ITGA3 — HGNC:6139; epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome (MONDO:0013881; AR; Definitive).
[ ] ITGB3 — HGNC:6156; Glanzmann thrombasthenia (MONDO:0100326; AR; Definitive); bleeding disorder, platelet-type, 24 (MONDO:0030996; AD; Definitive).
[ ] ITK — HGNC:6171; lymphoproliferative syndrome 1 (MONDO:0013081; AR; Definitive).
[ ] ITPA — HGNC:6176; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] ITPR1 — HGNC:6180; aniridia-cerebellar ataxia-intellectual disability syndrome (MONDO:0008795; AD; Definitive); aniridia-cerebellar ataxia-intellectual disability syndrome (MONDO:0008795; AR; Definitive); spinocerebellar ataxia type 29 (MONDO:0007298; AD; Definitive).
[ ] ITPR3 — HGNC:6182; Charcot-Marie-Tooth disease, demyelinating, type 1J (MONDO:0859311; AD; Definitive).
[ ] IVD — HGNC:6186; isovaleric acidemia (MONDO:0009475; AR; Definitive).
[ ] JAK1 — HGNC:6190; autoinflammation, immune dysregulation, and eosinophilia (MONDO:0033558; AD; Definitive).
[ ] JAK3 — HGNC:6193; T-B+ severe combined immunodeficiency due to JAK3 deficiency (MONDO:0010938; AR; Definitive).
[ ] JARID2 — HGNC:6196; developmental delay with variable intellectual disability and dysmorphic facies (MONDO:0859306; AD; Definitive).
[ ] KANSL1 — HGNC:24565; Koolen-de Vries syndrome (MONDO:0012496; AD; Definitive).
[ ] KAT6A — HGNC:13013; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] KAT6B — HGNC:17582; KAT6B-related multiple congenital anomalies syndrome (MONDO:0036042; AD; Definitive).
[ ] KATNIP — HGNC:29068; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] KBTBD13 — HGNC:37227; nemaline myopathy 6 (MONDO:0012237; AD; Definitive).
[ ] KCNA1 — HGNC:6218; episodic ataxia type 1 (MONDO:0008047; AD; Definitive).
[ ] KCNA2 — HGNC:6220; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] KCNB1 — HGNC:6231; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] KCNC1 — HGNC:6233; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); progressive myoclonus epilepsy (MONDO:0020074; AD; Definitive).
[ ] KCNC2 — HGNC:6234; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] KCNC3 — HGNC:6235; spinocerebellar ataxia type 13 (MONDO:0011529; AD; Definitive).
[ ] KCNH1 — HGNC:6250; KCNH1 associated disorder (MONDO:0100485; AD; Definitive).
[ ] KCNH2 — HGNC:6251; long QT syndrome (MONDO:0002442; AD; Definitive); short QT syndrome (MONDO:0000453; AD; Definitive).
[ ] KCNH5 — HGNC:6254; neonatal/infantile epilepsy syndrome (MONDO:0100022; AD; Definitive).
[ ] KCNJ1 — HGNC:6255; Bartter disease type 2 (MONDO:0009424; AR; Definitive).
[ ] KCNJ10 — HGNC:6256; EAST syndrome (MONDO:0013005; AR; Definitive).
[ ] KCNJ11 — HGNC:6257; hyperinsulinemic hypoglycemia, familial, 2 (MONDO:0011153; AD; Limited); hyperinsulinemic hypoglycemia, familial, 2 (MONDO:0011153; AR; Definitive); monogenic diabetes (MONDO:0015967; AD; Definitive).
[ ] KCNJ13 — HGNC:6259; inherited retinal dystrophy (MONDO:0019118; AR; Definitive); snowflake vitreoretinal degeneration (MONDO:0008663; AD; Moderate).
[ ] KCNJ16 — HGNC:6262; hypokalemic alkalosis, familial, with specific renal tubulopathy (MONDO:0009423; AR; Definitive).
[ ] KCNJ5 — HGNC:6266; familial hyperaldosteronism type III (MONDO:0013359; AD; Definitive).
[ ] KCNK3 — HGNC:6278; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] KCNMA1 — HGNC:6284; generalized epilepsy-paroxysmal dyskinesia syndrome (MONDO:0012276; AD; Definitive); generalized epilepsy-paroxysmal dyskinesia syndrome (MONDO:0012276; AR; Moderate).
[ ] KCNQ1 — HGNC:6294; Jervell and Lange-Nielsen syndrome (MONDO:0002441; AR; Definitive); long QT syndrome (MONDO:0002442; AD; Definitive); short QT syndrome (MONDO:0000453; AD; Strong).
[ ] KCNQ2 — HGNC:6296; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); neonatal encephalopathy with non-epileptic myoclonus (MONDO:0100456; AD; Definitive); neonatal-onset developmental and epileptic encephalopathy (MONDO:0100455; AD; Definitive).
[ ] KCNQ3 — HGNC:6297; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Limited); self-limited familial neonatal epilepsy (MONDO:0100023; AD; Moderate).
[ ] KCNQ4 — HGNC:6298; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] KCNT1 — HGNC:18865; childhood-onset epilepsy syndrome (MONDO:0020072; AD; Definitive).
[ ] KCNT2 — HGNC:18866; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] KCNV2 — HGNC:19698; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] KCTD1 — HGNC:18249; scalp-ear-nipple syndrome (MONDO:0008404; AD; Definitive).
[ ] KCTD7 — HGNC:21957; progressive myoclonus epilepsy (MONDO:0020074; AR; Definitive).
[ ] KDF1 — HGNC:26624; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type (MONDO:0015024; AD; Definitive).
[ ] KDM1A — HGNC:29079; palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (MONDO:0014751; AD; Definitive).
[ ] KDM3B — HGNC:1337; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] KDM5C — HGNC:11114; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] KDM6A — HGNC:12637; Kabuki syndrome 2 (MONDO:0010465; XL; Definitive).
[ ] KDM6B — HGNC:29012; syndromic intellectual disability (MONDO:0000508; AD; Definitive); syndromic intellectual disability (MONDO:0000508; AR; Limited).
[ ] KDR — HGNC:6307; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] KDSR — HGNC:4021; erythrokeratodermia variabilis et progressiva 4 (MONDO:0033014; AR; Definitive).
[ ] KIDINS220 — HGNC:29508; spastic paraplegia, intellectual disability, nystagmus, and obesity (MONDO:0015007; AD; Definitive); ventriculomegaly and arthrogryposis (MONDO:0859184; AR; Definitive).
[ ] KIF11 — HGNC:6388; microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability (MONDO:0007918; AD; Definitive).
[ ] KIF1A — HGNC:888; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] KIF21A — HGNC:19349; congenital fibrosis of extraocular muscles (MONDO:0007614; AD; Definitive).
[ ] KIF5A — HGNC:6323; amyotrophic lateral sclerosis, susceptibility to, 25 (MONDO:0060670; AD; Definitive); inherited neurodegenerative disorder (MONDO:0024237; AD; Definitive).
[ ] KIFBP — HGNC:23419; Goldberg-Shprintzen syndrome (MONDO:0012280; AR; Definitive).
[ ] KIT — HGNC:6342; gastrointestinal stromal tumor (MONDO:0011719; AD; Definitive).
[ ] KIZ — HGNC:15865; KIZ-related retinopathy (MONDO:0700232; AR; Definitive).
[ ] KLHL3 — HGNC:6354; pseudohypoaldosteronism type 2D (MONDO:0013781; SD; Definitive).
[ ] KLHL40 — HGNC:30372; nemaline myopathy 8 (MONDO:0014138; AR; Definitive).
[ ] KLKB1 — HGNC:6371; inherited prekallikrein deficiency (MONDO:0012901; AR; Definitive).
[ ] KMT2A — HGNC:7132; Wiedemann-Steiner syndrome (MONDO:0011518; AD; Definitive).
[ ] KMT2B — HGNC:15840; complex neurodevelopmental disorder with motor features (MONDO:0100516; AD; Definitive).
[ ] KMT2C — HGNC:13726; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] KMT2D — HGNC:7133; Kabuki syndrome 1 (MONDO:0007843; AD; Definitive).
[ ] KMT2E — HGNC:18541; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] KMT5B — HGNC:24283; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] KNG1 — HGNC:6383; congenital high-molecular-weight kininogen deficiency (MONDO:0009234; AR; Definitive).
[ ] KPTN — HGNC:6404; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] KRAS — HGNC:6407; Noonan syndrome (MONDO:0018997; AD; Definitive); cardiofaciocutaneous syndrome (MONDO:0015280; AD; Strong).
[ ] KYNU — HGNC:6469; vertebral, cardiac, renal, and limb defects syndrome 2 (MONDO:0060555; AR; Definitive).
[ ] L1CAM — HGNC:6470; L1 syndrome (MONDO:0017140; XL; Definitive).
[ ] L2HGDH — HGNC:20499; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] LAMA2 — HGNC:6482; LAMA2-related muscular dystrophy (MONDO:0100228; AR; Definitive).
[ ] LAMA5 — HGNC:6485; LAMA5-related multisystemic syndrome (MONDO:0033856; AR; Definitive).
[ ] LAMP2 — HGNC:6501; Danon disease (MONDO:0010281; XL; Definitive).
[ ] LARGE1 — HGNC:6511; muscular dystrophy-dystroglycanopathy (MONDO:0018276; AR; Definitive).
[ ] LARS2 — HGNC:17095; Perrault syndrome (MONDO:0017312; AR; Definitive).
[ ] LAT — HGNC:18874; severe combined immunodeficiency due to LAT deficiency (MONDO:0044721; AR; Definitive).
[ ] LCA5 — HGNC:31923; LCA5-related retinopathy (MONDO:0100445; AR; Definitive).
[ ] LCK — HGNC:6524; severe combined immunodeficiency due to LCK deficiency (MONDO:0014334; AR; Definitive).
[ ] LCP2 — HGNC:6529; immunodeficiency 81 (MONDO:0030302; AR; Definitive).
[ ] LDLR — HGNC:6547; hypercholesterolemia, familial, 1 (MONDO:0007750; SD; Definitive).
[ ] LDLRAP1 — HGNC:18640; hypercholesterolemia, familial, 4 (MONDO:0011374; AR; Definitive).
[ ] LGI1 — HGNC:6572; autosomal dominant epilepsy with auditory features (MONDO:0010898; AD; Definitive).
[ ] LHFPL5 — HGNC:21253; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] LIFR — HGNC:6597; obsolete Stüve-Wiedemann syndrome (MONDO:0011108; AR; Definitive).
[ ] LIG1 — HGNC:6598; immunodeficiency 96 (MONDO:0030693; AR; Definitive).
[ ] LIG3 — HGNC:6600; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] LIG4 — HGNC:6601; DNA ligase IV deficiency (MONDO:0011686; AR; Definitive).
[ ] LINS1 — HGNC:30922; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] LIPA — HGNC:6617; lysosomal acid lipase deficiency (MONDO:0800449; AR; Definitive).
[ ] LIPE — HGNC:6621; LIPE-related familial partial lipodystrophy (MONDO:0014431; AR; Definitive).
[ ] LITAF — HGNC:16841; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Definitive).
[ ] LMAN1 — HGNC:6631; factor V and factor VIII, combined deficiency of, type 1 (MONDO:0009206; AR; Definitive).
[ ] LMBRD1 — HGNC:23038; methylmalonic aciduria and homocystinuria type cblF (MONDO:0010183; AR; Definitive).
[ ] LMNA — HGNC:6636; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); dilated cardiomyopathy 1A (MONDO:0007269; AD; Definitive); lipodystrophy (MONDO:0006573; SD; Definitive).
[ ] LMNB1 — HGNC:6637; microcephaly 26, primary, autosomal dominant (MONDO:0030928; AD; Definitive).
[ ] LMOD2 — HGNC:6648; cardiomyopathy, dilated, 2G (MONDO:0030887; AR; Definitive).
[ ] LMOD3 — HGNC:6649; nemaline myopathy 10 (MONDO:0014513; AR; Definitive).
[ ] LMX1A — HGNC:6653; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Definitive).
[ ] LMX1B — HGNC:6654; nail-patella syndrome (MONDO:0008061; AD; Definitive).
[ ] LOXHD1 — HGNC:26521; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] LPIN1 — HGNC:13345; myoglobinuria, acute recurrent, autosomal recessive (MONDO:0009992; AR; Definitive).
[ ] LPIN2 — HGNC:14450; Majeed syndrome (MONDO:0012316; AR; Definitive).
[ ] LRAT — HGNC:6685; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] LRBA — HGNC:1742; combined immunodeficiency due to LRBA deficiency (MONDO:0013863; AR; Definitive).
[ ] LRP4 — HGNC:6696; Cenani-Lenz syndactyly syndrome (MONDO:0008931; AR; Definitive); congenital myasthenic syndrome 17 (MONDO:0014578; AR; Limited).
[ ] LRP5 — HGNC:6697; LRP5-related exudative vitreoretinopathy (MONDO:0700228; AR; Definitive); polycystic liver disease 4 with or without kidney cysts (MONDO:0044327; AD; Limited).
[ ] LRPPRC — HGNC:15714; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] LRRK2 — HGNC:18618; Parkinson disease (MONDO:0005180; AD; Definitive).
[ ] LRSAM1 — HGNC:25135; Charcot-Marie-Tooth disease axonal type 2P (MONDO:0013753; AD; Definitive).
[ ] LTBP2 — HGNC:6715; glaucoma 3, primary congenital, D (MONDO:0013122; AR; Definitive).
[ ] LYRM7 — HGNC:28072; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] LYST — HGNC:1968; Chediak-Higashi syndrome (MONDO:0008963; AR; Definitive).
[ ] LZTFL1 — HGNC:6741; LZTFL1-related ciliopathy (MONDO:1040046; AR; Definitive).
[ ] LZTR1 — HGNC:6742; LZTR1-related schwannomatosis (MONDO:0014299; AD; Definitive); Noonan syndrome (MONDO:0018997; AD; Definitive); Noonan syndrome (MONDO:0018997; AR; Definitive).
[ ] MAB21L2 — HGNC:6758; colobomatous microphthalmia-rhizomelic dysplasia syndrome (MONDO:0014380; AD; Definitive).
[ ] MAG — HGNC:6783; complex hereditary spastic paraplegia (MONDO:0015150; AR; Definitive).
[ ] MAGED2 — HGNC:16353; Bartter disease type 5 (MONDO:0010503; XL; Definitive).
[ ] MAGEL2 — HGNC:6814; Schaaf-Yang syndrome (MONDO:0014243; AD; Definitive).
[ ] MAGT1 — HGNC:28880; X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (MONDO:0010455; XL; Definitive).
[ ] MAK — HGNC:6816; MAK-related retinopathy (MONDO:0700229; AR; Definitive).
[ ] MALT1 — HGNC:6819; combined immunodeficiency due to MALT1 deficiency (MONDO:0014197; AR; Definitive).
[ ] MAN1B1 — HGNC:6823; MAN1B1-congenital disorder of glycosylation (MONDO:0018349; AR; Definitive).
[ ] MAN2B1 — HGNC:6826; alpha-mannosidosis (MONDO:0009561; AR; Definitive).
[ ] MANBA — HGNC:6831; beta-mannosidosis (MONDO:0009562; AR; Definitive).
[ ] MAOA — HGNC:6833; Brunner syndrome (MONDO:0010379; XL; Definitive).
[ ] MAP2K1 — HGNC:6840; Noonan syndrome (MONDO:0018997; AD; Limited); Noonan syndrome with multiple lentigines (MONDO:0007893; AD; Limited); cardiofaciocutaneous syndrome (MONDO:0015280; AD; Definitive).
[ ] MAP2K2 — HGNC:6842; Noonan syndrome (MONDO:0018997; AD; Limited); cardiofaciocutaneous syndrome (MONDO:0015280; AD; Definitive).
[ ] MAPK8IP3 — HGNC:6884; neurodevelopmental disorder with or without variable brain abnormalities; NEDBA (MONDO:0032755; AD; Definitive).
[ ] MAPKBP1 — HGNC:29536; nephronophthisis 20 (MONDO:0014997; AR; Definitive).
[ ] MARS2 — HGNC:25133; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MARVELD2 — HGNC:26401; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] MASP1 — HGNC:6901; 3MC syndrome 1 (MONDO:0009770; AR; Definitive).
[ ] MAT1A — HGNC:6903; methionine adenosyltransferase deficiency (MONDO:0009607; AR; Definitive).
[ ] MATR3 — HGNC:6912; distal myopathy with vocal cord weakness (MONDO:0018951; AD; Definitive).
[ ] MAX — HGNC:6913; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive).
[ ] MBD5 — HGNC:20444; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] MBOAT7 — HGNC:15505; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] MBTPS1 — HGNC:15456; spondyloepiphyseal dysplasia, kondo-fu type (MONDO:0032721; AR; Definitive).
[ ] MBTPS2 — HGNC:15455; IFAP syndrome 1, with or without BRESHECK syndrome (MONDO:0100213; XL; Definitive).
[ ] MCCC1 — HGNC:6936; 3-methylcrotonyl-CoA carboxylase deficiency (MONDO:0018950; AR; Definitive).
[ ] MCCC2 — HGNC:6937; 3-methylcrotonyl-CoA carboxylase deficiency (MONDO:0018950; AR; Definitive).
[ ] MCEE — HGNC:16732; methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (MONDO:0009615; AR; Definitive).
[ ] MCFD2 — HGNC:18451; factor 5 and Factor VIII, combined deficiency of, 2 (MONDO:0013331; AR; Definitive).
[ ] MCIDAS — HGNC:40050; ciliary dyskinesia, primary, 42 (MONDO:0032872; AR; Definitive).
[ ] MCM3AP — HGNC:6946; peripheral neuropathy, autosomal recessive, with or without impaired intellectual development (MONDO:0029131; AR; Definitive).
[ ] MCM9 — HGNC:21484; MCM9-related gametogenic failure (MONDO:1060226; AR; Definitive).
[ ] MCOLN1 — HGNC:13356; mucolipidosis type IV (MONDO:0009653; AR; Definitive).
[ ] MCPH1 — HGNC:6954; hereditary breast carcinoma (MONDO:0016419; AD; Limited); microcephaly with intellectual disability (MONDO:0100200; AR; Definitive).
[ ] MECOM — HGNC:3498; MECOM-associated syndrome (MONDO:0100458; AD; Definitive).
[ ] MECP2 — HGNC:6990; Rett syndrome (MONDO:0010726; XL; Definitive).
[ ] MED12 — HGNC:11957; MED12-related intellectual disability syndrome (MONDO:0100000; XL; Definitive).
[ ] MED12L — HGNC:16050; Nizon-Isidor syndrome (MONDO:0030030; AD; Definitive).
[ ] MED13 — HGNC:22474; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] MED13L — HGNC:22962; congenital heart disease (MONDO:0005453; AD; Limited); syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] MED27 — HGNC:2377; neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia (MONDO:0859137; AR; Definitive).
[ ] MEF2C — HGNC:6996; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] MEFV — HGNC:6998; familial Mediterranean fever (MONDO:0018088; SD; Definitive).
[ ] MEGF10 — HGNC:29634; MEGF10-related myopathy (MONDO:0013731; AR; Definitive).
[ ] MEIS2 — HGNC:7001; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] MEN1 — HGNC:7010; multiple endocrine neoplasia type 1 (MONDO:0007540; AD; Definitive).
[ ] MERTK — HGNC:7027; MERTK-related retinopathy (MONDO:0800394; AR; Definitive).
[ ] MET — HGNC:7029; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited); papillary renal cell carcinoma (MONDO:0017884; AD; Definitive).
[ ] METTL23 — HGNC:26988; intellectual disability (MONDO:0001071; AR; Definitive).
[ ] MFN2 — HGNC:16877; Charcot-Marie-Tooth disease type 2A2 (MONDO:0012231; SD; Definitive); multiple symmetric lipomatosis with partial lipodystrophy (MONDO:1060153; AR; Definitive).
[ ] MFSD8 — HGNC:28486; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] MGME1 — HGNC:16205; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MGP — HGNC:7060; Keutel syndrome (MONDO:0009495; AR; Definitive).
[ ] MICOS13 — HGNC:33702; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MICU1 — HGNC:1530; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MID1 — HGNC:7095; X-linked Opitz G/BBB syndrome (MONDO:0010222; XL; Definitive).
[ ] MINPP1 — HGNC:7102; pontocerebellar hypoplasia (MONDO:0020135; AR; Definitive).
[ ] MITF — HGNC:7105; Waardenburg syndrome type 2 (MONDO:0019517; AD; Definitive).
[ ] MKKS — HGNC:7108; MKKS-related ciliopathy (MONDO:1040050; AR; Definitive).
[ ] MKS1 — HGNC:7121; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] MLC1 — HGNC:17082; megalencephalic leukoencephalopathy with subcortical cysts 1 (MONDO:0024555; AR; Definitive).
[ ] MLH1 — HGNC:7127; Lynch syndrome (MONDO:0005835; AD; Definitive); mismatch repair cancer syndrome 1 (MONDO:0010159; AR; Definitive).
[ ] MLYCD — HGNC:7150; malonic aciduria (MONDO:0009556; AR; Definitive).
[ ] MMAA — HGNC:18871; methylmalonic aciduria, cblA type (MONDO:0009613; AR; Definitive).
[ ] MMAB — HGNC:19331; methylmalonic aciduria, cblB type (MONDO:0009614; AR; Definitive).
[ ] MMACHC — HGNC:24525; methylmalonic aciduria and homocystinuria type cblC (MONDO:0010184; AR; Definitive).
[ ] MMADHC — HGNC:25221; inborn disorder of cobalamin metabolism and transport (MONDO:0019220; AR; Definitive).
[ ] MME — HGNC:7154; Charcot-Marie-Tooth disease type 2T (MONDO:0044640; AR; Definitive).
[ ] MMUT — HGNC:7526; methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MONDO:0009612; AR; Definitive).
[ ] MN1 — HGNC:7180; CEBALID syndrome (MONDO:0032908; AD; Definitive).
[ ] MOCOS — HGNC:18234; xanthinuria type II (MONDO:0011346; AR; Definitive).
[ ] MOCS1 — HGNC:7190; sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (MONDO:0009643; AR; Definitive).
[ ] MOCS2 — HGNC:7193; sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 (MONDO:0009644; AR; Definitive).
[ ] MOGS — HGNC:24862; MOGS-congenital disorder of glycosylation (MONDO:0011629; AR; Definitive).
[ ] MORC2 — HGNC:23573; Charcot-Marie-Tooth disease axonal type 2Z (MONDO:0014736; AD; Definitive); Leigh syndrome (MONDO:0009723; AD; Limited).
[ ] MPC1 — HGNC:21606; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MPDU1 — HGNC:7207; MPDU1-congenital disorder of glycosylation (MONDO:0012211; AR; Definitive).
[ ] MPI — HGNC:7216; MPI-congenital disorder of glycosylation (MONDO:0011257; AR; Definitive).
[ ] MPIG6B — HGNC:13937; thrombocytopenia, anemia, and myelofibrosis (MONDO:0044316; AR; Definitive).
[ ] MPL — HGNC:7217; congenital amegakaryocytic thrombocytopenia 1 (MONDO:0800452; AR; Definitive); thrombocythemia 2 (MONDO:0011173; AD; Definitive).
[ ] MPV17 — HGNC:7224; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MPZ — HGNC:7225; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Definitive).
[ ] MRPL44 — HGNC:16650; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MRPS22 — HGNC:14508; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MSH2 — HGNC:7325; Lynch syndrome (MONDO:0005835; AD; Definitive); mismatch repair cancer syndrome 1 (MONDO:0010159; AR; Definitive).
[ ] MSH3 — HGNC:7326; familial adenomatous polyposis 4 (MONDO:0044300; AR; Definitive).
[ ] MSH6 — HGNC:7329; Lynch syndrome (MONDO:0005835; AD; Definitive); mismatch repair cancer syndrome 1 (MONDO:0010159; AR; Definitive).
[ ] MSL3 — HGNC:7370; Basilicata-Akhtar syndrome (MONDO:0026730; XL; Definitive).
[ ] MSN — HGNC:7373; combined immunodeficiency due to moesin deficiency (MONDO:0010514; XL; Definitive).
[ ] MSRB3 — HGNC:27375; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] MSTO1 — HGNC:29678; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MSX1 — HGNC:7391; tooth agenesis, selective, 1 (MONDO:0007129; AD; Definitive).
[ ] MSX2 — HGNC:7392; craniosynostosis 2 (MONDO:0011481; AD; Definitive); parietal foramina (MONDO:0018953; AD; Definitive).
[ ] MTFMT — HGNC:29666; Leigh syndrome (MONDO:0009723; AR; Definitive).
[ ] MTHFD1 — HGNC:7432; combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (MONDO:0060611; AR; Definitive).
[ ] MTHFR — HGNC:7436; homocystinuria due to methylene tetrahydrofolate reductase deficiency (MONDO:0009353; AR; Definitive).
[ ] MTM1 — HGNC:7448; X-linked myotubular myopathy (MONDO:0010683; XL; Definitive).
[ ] MTMR2 — HGNC:7450; demyelinating hereditary motor and sensory neuropathy (MONDO:0018776; AR; Definitive).
[ ] MTO1 — HGNC:19261; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MTOR — HGNC:3942; overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes (MONDO:0100283; AD; Definitive).
[ ] MTPAP — HGNC:25532; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MTR — HGNC:7468; methylcobalamin deficiency type cblG (MONDO:0009609; AR; Definitive).
[ ] MTRFR — HGNC:26784; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] MTRR — HGNC:7473; methylcobalamin deficiency type cblE (MONDO:0009354; AR; Definitive).
[ ] MTX2 — HGNC:7506; mandibuloacral dysplasia progeroid syndrome (MONDO:0030880; AR; Definitive).
[ ] MUC1 — HGNC:7508; tubulointerstitial kidney disease, autosomal dominant, 2 (MONDO:0020726; AD; Definitive).
[ ] MUSK — HGNC:7525; congenital myasthenic syndrome 9 (MONDO:0014587; AR; Definitive).
[ ] MUTYH — HGNC:7527; familial adenomatous polyposis 2 (MONDO:0012041; AR; Definitive).
[ ] MVK — HGNC:7530; mevalonate kinase deficiency (MONDO:0017708; AR; Definitive).
[ ] MYBPC3 — HGNC:7551; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); congenital heart disease (MONDO:0005453; AD; Limited); dilated cardiomyopathy (MONDO:0005021; AD; Limited); dilated cardiomyopathy (MONDO:0005021; AR; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] MYCN — HGNC:7559; Feingold syndrome type 1 (MONDO:0008115; AD; Definitive); megalencephaly-polydactyly syndrome (MONDO:0958279; AD; Moderate).
[ ] MYH10 — HGNC:7568; complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465; AD; Definitive).
[ ] MYH11 — HGNC:7569; congenital heart disease (MONDO:0005453; AD; Limited); familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Definitive).
[ ] MYH2 — HGNC:7572; myopathy, proximal, and ophthalmoplegia (MONDO:0011577; AD; Moderate); myopathy, proximal, and ophthalmoplegia (MONDO:0011577; AR; Definitive).
[ ] MYH6 — HGNC:7576; MYH-6 related congenital heart defects (MONDO:0800442; AD; Definitive); dilated cardiomyopathy 1EE (MONDO:0013198; AD; Limited).
[ ] MYH7 — HGNC:7577; MYH7-related skeletal myopathy (MONDO:0008050; AD; Definitive); arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); congenital heart disease (MONDO:0005453; AD; Limited); dilated cardiomyopathy 1S (MONDO:0013262; AD; Definitive); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] MYH9 — HGNC:7579; macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MONDO:0015912; AD; Definitive).
[ ] MYL2 — HGNC:7583; dilated cardiomyopathy (MONDO:0005021; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] MYL3 — HGNC:7584; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] MYMK — HGNC:33778; obsolete Carey-Fineman-Ziter syndrome (MONDO:0009700; AR; Definitive).
[ ] MYO15A — HGNC:7594; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] MYO18B — HGNC:18150; Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (MONDO:0014689; AR; Definitive).
[ ] MYO3A — HGNC:7601; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] MYO5A — HGNC:7602; Griscelli syndrome type 1 (MONDO:0008962; AR; Definitive).
[ ] MYO6 — HGNC:7605; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] MYO7A — HGNC:7606; Usher syndrome type 1 (MONDO:0010168; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] MYOC — HGNC:7610; open-angle glaucoma (MONDO:0005338; AD; Definitive).
[ ] MYPN — HGNC:23246; MYPN-related myopathy (MONDO:0015023; AR; Definitive); dilated cardiomyopathy 1KK (MONDO:0014100; AD; Limited).
[ ] MYRF — HGNC:1181; cardiac-urogenital syndrome (MONDO:0032653; AD; Definitive).
[ ] MYSM1 — HGNC:29401; bone marrow failure syndrome 4 (MONDO:0020856; AR; Definitive).
[ ] MYT1L — HGNC:7623; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] NAA10 — HGNC:18704; NAA10-related syndrome (MONDO:0100124; XL; Definitive).
[ ] NAA15 — HGNC:30782; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] NACC1 — HGNC:20967; NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability (MONDO:0800475; AD; Definitive).
[ ] NAF1 — HGNC:25126; pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 (MONDO:0957261; AD; Definitive).
[ ] NAGA — HGNC:7631; alpha-N-acetylgalactosaminidase deficiency (MONDO:0017779; AR; Definitive).
[ ] NAGLU — HGNC:7632; mucopolysaccharidosis type 3B (MONDO:0009656; AR; Definitive).
[ ] NAGS — HGNC:17996; hyperammonemia due to N-acetylglutamate synthase deficiency (MONDO:0009377; AR; Definitive).
[ ] NANS — HGNC:19237; spondyloepimetaphyseal dysplasia, Genevieve type (MONDO:0012495; AR; Definitive).
[ ] NARS2 — HGNC:26274; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] NAXD — HGNC:25576; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NAXE — HGNC:18453; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NBEA — HGNC:7648; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] NBEAL2 — HGNC:31928; gray platelet syndrome (MONDO:0007686; AR; Definitive).
[ ] NBN — HGNC:7652; Nijmegen breakage syndrome (MONDO:0009623; AR; Definitive).
[ ] NCKAP1 — HGNC:7666; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] NDE1 — HGNC:17619; microcephaly with lissencephaly and/or hydranencephaly (MONDO:0700116; AR; Definitive).
[ ] NDP — HGNC:7678; Norrie disease (MONDO:0010691; XL; Definitive).
[ ] NDUFA12 — HGNC:23987; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFA2 — HGNC:7685; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFAF2 — HGNC:28086; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFAF3 — HGNC:29918; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFAF4 — HGNC:21034; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFAF5 — HGNC:15899; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFAF6 — HGNC:28625; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFB11 — HGNC:20372; mitochondrial disease (MONDO:0044970; XL; Definitive).
[ ] NDUFB3 — HGNC:7698; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS1 — HGNC:7707; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS2 — HGNC:7708; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS4 — HGNC:7711; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS6 — HGNC:7713; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS7 — HGNC:7714; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFS8 — HGNC:7715; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFV1 — HGNC:7716; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NDUFV2 — HGNC:7717; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NEB — HGNC:7720; autosomal dominant nebulin-related myopathy (MONDO:1010152; AD; Moderate); nemaline myopathy 2 (MONDO:0009725; AR; Definitive).
[ ] NECTIN1 — HGNC:9706; cleft lip/palate-ectodermal dysplasia syndrome (MONDO:0009151; AR; Definitive).
[ ] NEDD4L — HGNC:7728; periventricular nodular heterotopia 7 (MONDO:0014966; AD; Definitive).
[ ] NEFH — HGNC:7737; Charcot-Marie-Tooth disease axonal type 2CC (MONDO:0014836; AD; Definitive); amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] NEFL — HGNC:7739; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Definitive); Charcot-Marie-Tooth disease type 2 (MONDO:0018993; AR; Definitive).
[ ] NEK1 — HGNC:7744; amyotrophic lateral sclerosis, susceptibility to, 24 (MONDO:0054750; AD; Definitive).
[ ] NEK10 — HGNC:18592; ciliary dyskinesia, primary, 44 (MONDO:0032914; AR; Definitive).
[ ] NEK8 — HGNC:13387; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Strong); renal-hepatic-pancreatic dysplasia 2 (MONDO:0014174; AR; Definitive).
[ ] NEU1 — HGNC:7758; sialidosis (MONDO:0017734; AR; Definitive).
[ ] NEXMIF — HGNC:29433; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] NF1 — HGNC:7765; neurofibromatosis type 1 (MONDO:0018975; AD; Definitive).
[ ] NF2 — HGNC:7773; NF2-related schwannomatosis (MONDO:0007039; AD; Definitive).
[ ] NFIA — HGNC:7784; brain malformations with or without urinary tract defects (MONDO:0100478; AD; Definitive).
[ ] NFIB — HGNC:7785; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] NFIX — HGNC:7788; Malan overgrowth syndrome (MONDO:0013885; AD; Definitive); Marshall-Smith syndrome (MONDO:0011244; AD; Definitive).
[ ] NFKB1 — HGNC:7794; immunodeficiency, common variable, 12 (MONDO:0014697; AD; Definitive).
[ ] NFKB2 — HGNC:7795; immunodeficiency, common variable, 10 (MONDO:0014260; AD; Definitive).
[ ] NFKBIA — HGNC:7797; ectodermal dysplasia and immunodeficiency 2 (MONDO:0012806; AD; Definitive).
[ ] NFU1 — HGNC:16287; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NGLY1 — HGNC:17646; congenital disorder of deglycosylation 1 (MONDO:0800044; AR; Definitive).
[ ] NHEJ1 — HGNC:25737; Cernunnos-XLF deficiency (MONDO:0012650; AR; Definitive).
[ ] NHLRC1 — HGNC:21576; Lafora disease (MONDO:0009697; AR; Definitive).
[ ] NHS — HGNC:7820; Nance-Horan syndrome (MONDO:0010545; XL; Definitive).
[ ] NIPBL — HGNC:28862; Cornelia de Lange syndrome (MONDO:0016033; AD; Definitive).
[ ] NKX2-1 — HGNC:11825; NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (MONDO:0100520; AD; Definitive).
[ ] NKX2-5 — HGNC:2488; NKX2.5-related congenital, conduction and myopathic heart disease (MONDO:0800441; AD; Definitive).
[ ] NLGN4X — HGNC:14287; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] NMNAT1 — HGNC:17877; NMNAT1-related retinopathy (MONDO:0800101; AR; Definitive).
[ ] NNT — HGNC:7863; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NOD2 — HGNC:5331; Blau syndrome (MONDO:0008523; AD; Definitive).
[ ] NODAL — HGNC:7865; congenital heart disease with heterotaxy syndrome (MONDO:1060197; AD; Definitive).
[ ] NOG — HGNC:7866; NOG-related symphalangism spectrum disorder (MONDO:0100521; AD; Definitive).
[ ] NONO — HGNC:7871; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] NOTCH1 — HGNC:7881; NOTCH1-related AOS spectrum disorder (MONDO:1060150; AD; Definitive).
[ ] NOTCH2 — HGNC:7882; Alagille syndrome (MONDO:0007318; AD; Definitive); acroosteolysis dominant type (MONDO:0007057; AD; Definitive).
[ ] NOTCH3 — HGNC:7883; cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 (MONDO:0000914; AD; Definitive); cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1 (MONDO:0979867; AR; Definitive); inherited thrombocytopenia (MONDO:0100241; AR; Limited).
[ ] NOVA2 — HGNC:7887; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] NPC1 — HGNC:7897; Niemann-Pick disease, type C1 (MONDO:0009757; AR; Definitive).
[ ] NPC2 — HGNC:14537; Niemann-Pick disease, type C2 (MONDO:0011873; AR; Definitive).
[ ] NPHP1 — HGNC:7905; nephronophthisis 1 (MONDO:0009728; AR; Definitive).
[ ] NPHP3 — HGNC:7907; nephronophthisis (MONDO:0019005; AR; Definitive).
[ ] NPHP4 — HGNC:19104; nephronophthisis 4 (MONDO:0011752; AR; Definitive).
[ ] NPHS1 — HGNC:7908; congenital nephrotic syndrome, Finnish type (MONDO:0009732; AR; Definitive).
[ ] NPRL2 — HGNC:24969; focal epilepsy (MONDO:0005384; AD; Definitive).
[ ] NPRL3 — HGNC:14124; focal epilepsy (MONDO:0005384; AD; Definitive).
[ ] NR2E3 — HGNC:7974; enhanced S-cone syndrome (MONDO:0100288; AR; Definitive); inherited retinal dystrophy (MONDO:0019118; AD; Definitive).
[ ] NR2F1 — HGNC:7975; Bosch-Boonstra-Schaaf optic atrophy syndrome (MONDO:0014320; AD; Definitive).
[ ] NR2F2 — HGNC:7976; NR2F2 related multiple congenital anomalies/dysmorphic syndrome (MONDO:0800458; AD; Definitive).
[ ] NR3C2 — HGNC:7979; autosomal dominant pseudohypoaldosteronism type 1 (MONDO:0008329; AD; Definitive); pseudohyperaldosteronism type 2 (MONDO:0011517; AD; Limited).
[ ] NR4A2 — HGNC:7981; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] NR5A1 — HGNC:7983; NR5A1-related sex development disorder (MONDO:1060211; AD; Definitive).
[ ] NRAS — HGNC:7989; Costello syndrome (MONDO:0009026; AD; Limited); Noonan syndrome (MONDO:0018997; AD; Definitive); Noonan syndrome with multiple lentigines (MONDO:0007893; AD; Limited); cardiofaciocutaneous syndrome (MONDO:0015280; AD; Limited).
[ ] NRL — HGNC:8002; retinitis pigmentosa 27 (MONDO:0013402; AD; Definitive).
[ ] NRROS — HGNC:24613; seizures, early-onset, with neurodegeneration and brain calcifications (MONDO:0030033; AR; Definitive).
[ ] NRXN1 — HGNC:8008; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] NSD1 — HGNC:14234; Sotos syndrome (MONDO:0019349; AD; Definitive).
[ ] NSD2 — HGNC:12766; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] NSUN2 — HGNC:25994; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] NT5C2 — HGNC:8022; complex hereditary spastic paraplegia (MONDO:0015150; AR; Definitive).
[ ] NTHL1 — HGNC:8028; NTHL1-deficiency tumor predisposition syndrome (MONDO:0100502; AR; Definitive).
[ ] NTRK1 — HGNC:8031; hereditary sensory and autonomic neuropathy type 4 (MONDO:0009746; AR; Definitive).
[ ] NUBPL — HGNC:20278; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] NUP188 — HGNC:17859; sandestig-stefanova syndrome (MONDO:0032926; AR; Definitive).
[ ] NUP93 — HGNC:28958; nephrotic syndrome, type 12 (MONDO:0014817; AR; Definitive).
[ ] NUS1 — HGNC:21042; progressive myoclonus epilepsy (MONDO:0020074; AD; Definitive).
[ ] NYX — HGNC:8082; NYX-related retinopathy (MONDO:0800407; XL; Definitive).
[ ] OAT — HGNC:8091; ornithine aminotransferase deficiency (MONDO:0009796; AR; Definitive).
[ ] OCA2 — HGNC:8101; oculocutaneous albinism type 2 (MONDO:0008746; AR; Definitive).
[ ] OCRL — HGNC:8108; oculocerebrorenal syndrome (MONDO:0010645; XL; Definitive).
[ ] ODAD1 — HGNC:26560; primary ciliary dyskinesia 20 (MONDO:0014030; AR; Definitive).
[ ] ODAD2 — HGNC:25583; primary ciliary dyskinesia 23 (MONDO:0014193; AR; Definitive).
[ ] ODAD3 — HGNC:28303; primary ciliary dyskinesia 30 (MONDO:0014465; AR; Definitive).
[ ] ODAD4 — HGNC:25280; primary ciliary dyskinesia 35 (MONDO:0014910; AR; Definitive).
[ ] OFD1 — HGNC:2567; OFD1-related ciliopathy (MONDO:1040039; XL; Definitive).
[ ] OGDH — HGNC:8124; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] OPA1 — HGNC:8140; Leigh syndrome (MONDO:0009723; AR; Moderate); OPA1-related optic atrophy with or without extraocular features (MONDO:0800181; SD; Definitive).
[ ] OPHN1 — HGNC:8148; X-linked intellectual disability-cerebellar hypoplasia syndrome (MONDO:0010337; XL; Definitive).
[ ] OPN1LW — HGNC:9936; red color blindness (MONDO:0010565; XL; Definitive).
[ ] OPN1MW — HGNC:4206; red-green color blindness (MONDO:0010564; XL; Definitive).
[ ] OPTN — HGNC:17142; amyotrophic lateral sclerosis type 12 (MONDO:0013264; SD; Definitive); glaucoma, normal tension, susceptibility to (MONDO:0011693; AD; Definitive).
[ ] ORAI1 — HGNC:25896; tubular aggregate myopathy (MONDO:0008051; AD; Definitive).
[ ] ORC6 — HGNC:17151; Meier-Gorlin syndrome 3 (MONDO:0013430; AR; Definitive).
[ ] OSTM1 — HGNC:21652; autosomal recessive osteopetrosis 5 (MONDO:0009817; AR; Definitive).
[ ] OTC — HGNC:8512; ornithine carbamoyltransferase deficiency (MONDO:0010703; XL; Definitive).
[ ] OTOA — HGNC:16378; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] OTOF — HGNC:8515; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] OTOG — HGNC:8516; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] OTOGL — HGNC:26901; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] OTUD6B — HGNC:24281; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] OTULIN — HGNC:25118; autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive (MONDO:0014912; AR; Definitive).
[ ] OXCT1 — HGNC:8527; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] P2RY12 — HGNC:18124; P2RY12-related platelet disorder, autosomal dominant (MONDO:1060234; AD; Moderate); platelet-type bleeding disorder 8 (MONDO:0012354; AR; Definitive).
[ ] PACS1 — HGNC:30032; Schuurs-Hoeijmakers syndrome (MONDO:0014006; AD; Definitive).
[ ] PACS2 — HGNC:23794; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] PAH — HGNC:8582; phenylketonuria (MONDO:0009861; AR; Definitive).
[ ] PAK3 — HGNC:8592; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] PALB2 — HGNC:26144; Fanconi anemia complementation group N (MONDO:0012565; AR; Definitive); PALB2-related cancer predisposition (MONDO:0700272; AD; Definitive).
[ ] PARK7 — HGNC:16369; Parkinson disease (MONDO:0005180; AR; Definitive).
[ ] PARN — HGNC:8609; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 (MONDO:0014612; SD; Definitive).
[ ] PAX1 — HGNC:8615; otofaciocervical syndrome 2 (MONDO:0014254; AR; Definitive).
[ ] PAX2 — HGNC:8616; focal segmental glomerulosclerosis 7 (MONDO:0014451; AD; Definitive).
[ ] PAX3 — HGNC:8617; Waardenburg syndrome (MONDO:0018094; AD; Definitive).
[ ] PAX5 — HGNC:8619; PAX5-related B lymphopenia and autism spectrum disorder (MONDO:0100299; AR; Moderate); leukemia, acute lymphoblastic, susceptibility to, 3 (MONDO:0014241; AD; Definitive).
[ ] PAX6 — HGNC:8620; PAX6-related ocular dysgenesis (MONDO:0800183; AD; Definitive).
[ ] PAX9 — HGNC:8623; tooth agenesis, selective, 3 (MONDO:0011477; AD; Definitive).
[ ] PBX1 — HGNC:8632; congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay (MONDO:0060549; AD; Definitive).
[ ] PCARE — HGNC:34383; PCARE-related retinopathy (MONDO:0800404; AR; Definitive).
[ ] PCBD1 — HGNC:8646; pterin-4 alpha-carbinolamine dehydratase 1 deficiency (MONDO:0009908; AR; Definitive).
[ ] PCCA — HGNC:8653; propionic acidemia (MONDO:0011628; AR; Definitive).
[ ] PCCB — HGNC:8654; propionic acidemia (MONDO:0011628; AR; Definitive).
[ ] PCDH19 — HGNC:14270; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] PCGF2 — HGNC:12929; turnpenny-fry syndrome (MONDO:0032707; AD; Definitive).
[ ] PCK1 — HGNC:8724; phosphoenolpyruvate carboxykinase deficiency, cytosolic (MONDO:0009866; AR; Definitive).
[ ] PCNT — HGNC:16068; microcephalic osteodysplastic primordial dwarfism type II (MONDO:0008872; AR; Definitive).
[ ] PCSK9 — HGNC:20001; hypercholesterolemia, autosomal dominant, 3 (MONDO:0011369; AD; Definitive).
[ ] PCYT1A — HGNC:8754; spondylometaphyseal dysplasia-cone-rod dystrophy syndrome (MONDO:0012160; AR; Definitive).
[ ] PDE6A — HGNC:8785; PDE6A-related retinopathy (MONDO:0700224; AR; Definitive).
[ ] PDE6B — HGNC:8786; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] PDE6C — HGNC:8787; PDE6C-related retinopathy (MONDO:1040028; AR; Definitive).
[ ] PDE6G — HGNC:8789; PDE6G-related retinopathy (MONDO:1040034; AR; Definitive).
[ ] PDGFRA — HGNC:8803; congenital heart disease (MONDO:0005453; AD; Limited); gastrointestinal stromal tumor (MONDO:0011719; AD; Definitive).
[ ] PDHA1 — HGNC:8806; Leigh syndrome (MONDO:0009723; XL; Definitive); mitochondrial disease (MONDO:0044970; XL; Definitive).
[ ] PDHX — HGNC:21350; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PDK3 — HGNC:8811; Charcot-Marie-Tooth disease X-linked dominant 6 (MONDO:0010479; XL; Definitive).
[ ] PDX1 — HGNC:6107; monogenic diabetes (MONDO:0015967; AD; Moderate); pancreatic agenesis 1 (MONDO:0024547; AR; Definitive).
[ ] PDZD7 — HGNC:26257; hearing loss, autosomal recessive (MONDO:0019588; AR; Definitive).
[ ] PEPD — HGNC:8840; prolidase deficiency (MONDO:0008221; AR; Definitive).
[ ] PET100 — HGNC:40038; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PEX1 — HGNC:8850; peroxisome biogenesis disorder due to PEX1 defect (MONDO:0100259; AR; Definitive).
[ ] PEX10 — HGNC:8851; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX11B — HGNC:8853; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX12 — HGNC:8854; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX13 — HGNC:8855; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX14 — HGNC:8856; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX16 — HGNC:8857; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX19 — HGNC:9713; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX2 — HGNC:9717; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX26 — HGNC:22965; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX3 — HGNC:8858; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX5 — HGNC:9719; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX6 — HGNC:8859; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PEX7 — HGNC:8860; peroxisome biogenesis disorder (MONDO:0019234; AR; Definitive).
[ ] PFN1 — HGNC:8881; amyotrophic lateral sclerosis type 18 (MONDO:0013891; AD; Definitive).
[ ] PGAP3 — HGNC:23719; hyperphosphatasia with intellectual disability syndrome 4 (MONDO:0014318; AR; Definitive).
[ ] PGM1 — HGNC:8905; PGM1-congenital disorder of glycosylation (MONDO:0013968; AR; Definitive).
[ ] PGM3 — HGNC:8907; immunodeficiency 23 (MONDO:0014353; AR; Definitive).
[ ] PHEX — HGNC:8918; X-linked dominant hypophosphatemic rickets (MONDO:0010619; XL; Definitive).
[ ] PHF12 — HGNC:20816; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PHF21A — HGNC:24156; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PHF6 — HGNC:18145; Borjeson-Forssman-Lehmann syndrome (MONDO:0010537; XL; Definitive).
[ ] PHF8 — HGNC:20672; syndromic X-linked intellectual disability Siderius type (MONDO:0010286; XL; Definitive).
[ ] PHGDH — HGNC:8923; neurometabolic disorder due to serine deficiency (MONDO:0018162; AR; Definitive).
[ ] PHIP — HGNC:15673; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (MONDO:0035133; AD; Definitive).
[ ] PHKA1 — HGNC:8925; glycogen storage disease IXd (MONDO:0010362; XL; Definitive).
[ ] PHKB — HGNC:8927; glycogen storage disease IXb (MONDO:0009868; AR; Definitive).
[ ] PHKG2 — HGNC:8931; glycogen storage disease IXc (MONDO:0013091; AR; Definitive).
[ ] PHOX2B — HGNC:9143; Haddad syndrome (MONDO:0020493; AD; Definitive); central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease (MONDO:0800026; AD; Definitive).
[ ] PHYH — HGNC:8940; phytanoyl-CoA hydroxylase deficiency (MONDO:0100258; AR; Definitive).
[ ] PIDD1 — HGNC:16491; intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MONDO:0030785; AR; Definitive).
[ ] PIEZO1 — HGNC:28993; dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema (MONDO:0008689; AD; Strong); obsolete PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (MONDO:0035474; AR; Definitive).
[ ] PIGA — HGNC:8957; complex neurodevelopmental disorder (MONDO:0100038; XL; Definitive).
[ ] PIGL — HGNC:8966; syndromic intellectual disability (MONDO:0000508; AR; Definitive).
[ ] PIGN — HGNC:8967; multiple congenital anomalies-hypotonia-seizures syndrome 1 (MONDO:0013563; AR; Definitive).
[ ] PIGO — HGNC:23215; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] PIGQ — HGNC:14135; developmental and epileptic encephalopathy, 77 (MONDO:0032808; AR; Definitive).
[ ] PIGS — HGNC:14937; glycosylphosphatidylinositol biosynthesis defect 18 (MONDO:0029140; AR; Definitive).
[ ] PIGT — HGNC:14938; multiple congenital anomalies-hypotonia-seizures syndrome 3 (MONDO:0014165; AR; Definitive).
[ ] PIK3CD — HGNC:8977; immunodeficiency 14 (MONDO:0014222; AD; Definitive); immunodeficiency 14b, autosomal recessive (MONDO:0023655; AR; Definitive).
[ ] PIK3R1 — HGNC:8979; PIK3R1-related immunodeficiency and SHORT syndrome (MONDO:1060136; AD; Definitive); agammaglobulinemia 7, autosomal recessive (MONDO:0014083; AR; Limited).
[ ] PIK3R2 — HGNC:8980; overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes (MONDO:0100283; AD; Definitive).
[ ] PINK1 — HGNC:14581; Parkinson disease (MONDO:0005180; AR; Definitive).
[ ] PITX2 — HGNC:9005; anterior segment dysgenesis 4 (MONDO:0007662; AD; Definitive).
[ ] PJVK — HGNC:29502; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] PKD1 — HGNC:9008; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Definitive); autosomal recessive polycystic kidney disease (MONDO:0009889; AR; Definitive).
[ ] PKD2 — HGNC:9009; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Definitive).
[ ] PKHD1 — HGNC:9016; autosomal recessive polycystic kidney disease (MONDO:0009889; AR; Definitive).
[ ] PKLR — HGNC:9020; pyruvate kinase deficiency of red cells (MONDO:0009950; AR; Definitive).
[ ] PKP2 — HGNC:9024; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Definitive).
[ ] PLA2G6 — HGNC:9039; PLA2G6-associated neurodegeneration (MONDO:0017998; AR; Definitive).
[ ] PLCB1 — HGNC:15917; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] PLCB4 — HGNC:9059; auriculocondylar syndrome 2 (MONDO:0013845; AD; Definitive); auriculocondylar syndrome 2 (MONDO:0013845; AR; Definitive).
[ ] PLCE1 — HGNC:17175; nephrotic syndrome, type 3 (MONDO:0012546; AR; Definitive).
[ ] PLD1 — HGNC:9067; PLD1-related congenital heart disease (MONDO:1010144; AR; Definitive).
[ ] PLEC — HGNC:9069; PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder (MONDO:1060109; AR; Definitive).
[ ] PLEKHG5 — HGNC:29105; neuromuscular disease (MONDO:0019056; AR; Definitive).
[ ] PLG — HGNC:9071; hypoplasminogenemia (MONDO:0009009; AR; Definitive).
[ ] PLIN1 — HGNC:9076; PLIN1-related familial partial lipodystrophy (MONDO:0013478; AD; Definitive).
[ ] PLN — HGNC:9080; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Moderate); intrinsic cardiomyopathy (MONDO:0000591; AD; Definitive).
[ ] PLP1 — HGNC:9086; Pelizaeus-Merzbacher spectrum disorder (MONDO:0010714; XL; Definitive).
[ ] PMM2 — HGNC:9115; PMM2-congenital disorder of glycosylation (MONDO:0008907; AR; Definitive); hyperinsulinemic hypoglycemia with polycystic kidney disease (MONDO:1030000; AR; Moderate).
[ ] PMP22 — HGNC:9118; Charcot-Marie-Tooth disease type 1A (MONDO:0007309; AD; Definitive); hereditary neuropathy with liability to pressure palsies (MONDO:0008087; AD; Definitive).
[ ] PMPCA — HGNC:18667; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PMS2 — HGNC:9122; Lynch syndrome (MONDO:0005835; AD; Definitive); mismatch repair cancer syndrome 1 (MONDO:0010159; AR; Definitive).
[ ] PNKP — HGNC:9154; microcephaly, seizures, and developmental delay (MONDO:0013254; AR; Definitive).
[ ] PNP — HGNC:7892; purine nucleoside phosphorylase deficiency (MONDO:0013171; AR; Definitive).
[ ] PNPLA2 — HGNC:30802; neutral lipid storage myopathy (MONDO:0012545; AR; Definitive).
[ ] PNPLA6 — HGNC:16268; PNPLA6-related spastic paraplegia with or without ataxia (MONDO:0100149; AR; Definitive); retinal dystrophy-ataxia-pituitary hormone abnormality-hypogonadism syndrome (MONDO:0100155; AR; Definitive).
[ ] PNPLA8 — HGNC:28900; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PNPO — HGNC:30260; pyridoxal phosphate-responsive seizures (MONDO:0012407; AR; Definitive).
[ ] POC1B — HGNC:30836; cone-rod dystrophy 20 (MONDO:0014427; AR; Definitive).
[ ] POFUT1 — HGNC:14988; Dowling-Degos disease 2 (MONDO:0014130; AD; Definitive); congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] POGLUT1 — HGNC:22954; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] POGZ — HGNC:18801; intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (MONDO:0014606; AD; Definitive).
[ ] POLD1 — HGNC:9175; POLD1-related polyposis and colorectal cancer syndrome (MONDO:0100351; AD; Definitive); mandibular hypoplasia-deafness-progeroid syndrome (MONDO:0014157; AD; Definitive); non-severe combined immunodeficiency due to polymerase delta deficiency (MONDO:0800145; AR; Limited).
[ ] POLE — HGNC:9177; POLE-related polyposis and colorectal cancer syndrome (MONDO:0100287; AD; Definitive).
[ ] POLH — HGNC:9181; xeroderma pigmentosum variant type (MONDO:0010214; AR; Definitive).
[ ] POLR1C — HGNC:20194; POLR1C-related disorder (MONDO:0700278; AR; Definitive); Treacher Collins syndrome 3 (MONDO:0009558; AR; Moderate).
[ ] POLR1D — HGNC:20422; Treacher Collins syndrome 2 (MONDO:0013385; AD; Definitive).
[ ] POLR2A — HGNC:9187; neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (MONDO:0032829; AD; Definitive).
[ ] POLR3A — HGNC:30074; POLR3A-related disorder (MONDO:0700276; AR; Definitive).
[ ] POLR3B — HGNC:30348; POLR3B-related disorder (MONDO:0700277; AD; Definitive); POLR3B-related disorder (MONDO:0700277; AR; Definitive).
[ ] POMGNT1 — HGNC:19139; myopathy caused by variation in POMGNT1 (MONDO:0700068; AR; Definitive).
[ ] POMGNT2 — HGNC:25902; myopathy caused by variation in POMGNT2 (MONDO:0700069; AR; Definitive).
[ ] POMT1 — HGNC:9202; myopathy caused by variation in POMT1 (MONDO:0700070; AR; Definitive).
[ ] POMT2 — HGNC:19743; myopathy caused by variation in POMT2 (MONDO:0700071; AR; Definitive).
[ ] POPDC1 — HGNC:1152 (ClinGen source symbol: BVES); autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] POPDC3 — HGNC:17649; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] POR — HGNC:9208; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MONDO:0008726; AR; Definitive).
[ ] PORCN — HGNC:17652; focal dermal hypoplasia (MONDO:0010592; XL; Definitive).
[ ] POT1 — HGNC:17284; tumor predisposition syndrome 3 (MONDO:0014368; AD; Definitive).
[ ] POU3F3 — HGNC:9216; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] POU3F4 — HGNC:9217; nonsyndromic genetic hearing loss (MONDO:0019497; XL; Definitive).
[ ] POU4F3 — HGNC:9220; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] PPARG — HGNC:9236; lipodystrophy (MONDO:0006573; SD; Definitive).
[ ] PPM1D — HGNC:9277; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] PPP1CB — HGNC:9282; Noonan syndrome-like disorder with loose anagen hair (MONDO:0011899; AD; Definitive).
[ ] PPP1R13L — HGNC:18838; arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (MONDO:0957795; AR; Definitive).
[ ] PPP1R21 — HGNC:30595; neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities (MONDO:0859165; AR; Definitive).
[ ] PPP2CA — HGNC:9299; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PPP2R1A — HGNC:9302; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PPP2R5C — HGNC:9311; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PPP2R5D — HGNC:9312; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PPP3CA — HGNC:9314; developmental and epileptic encephalopathy (MONDO:0100620; AD; Definitive).
[ ] PPT1 — HGNC:9325; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] PQBP1 — HGNC:9330; Renpenning syndrome (MONDO:0010653; XL; Definitive).
[ ] PRF1 — HGNC:9360; familial hemophagocytic lymphohistiocytosis 2 (MONDO:0011337; AR; Definitive).
[ ] PRG4 — HGNC:9364; camptodactyly-arthropathy-coxa vara-pericarditis syndrome (MONDO:0008828; AR; Definitive).
[ ] PRKAG2 — HGNC:9386; PRKAG2-related cardiomyopathy (MONDO:0800484; AD; Definitive).
[ ] PRKAR1A — HGNC:9388; Carney complex, type 1 (MONDO:0008057; AD; Definitive).
[ ] PRKCD — HGNC:9399; systemic lupus erythematosus (MONDO:0007915; AR; Definitive).
[ ] PRKCSH — HGNC:9411; polycystic liver disease 1 (MONDO:0008265; AD; Definitive).
[ ] PRKDC — HGNC:9413; severe combined immunodeficiency due to DNA-PKcs deficiency (MONDO:0014423; AR; Definitive).
[ ] PRKN — HGNC:8607; Parkinson disease (MONDO:0005180; AR; Definitive).
[ ] PROC — HGNC:9451; hereditary thrombophilia due to congenital protein C deficiency (MONDO:0019145; SD; Definitive).
[ ] PRODH — HGNC:9453; hyperprolinemia type 1 (MONDO:0009400; AR; Definitive).
[ ] PROK2 — HGNC:18455; hypogonadotropic hypogonadism 4 with or without anosmia (MONDO:0012528; SD; Definitive).
[ ] PROKR2 — HGNC:15836; hypogonadotropic hypogonadism 3 with or without anosmia (MONDO:0009482; AD; Definitive).
[ ] PROM1 — HGNC:9454; PROM1-related dominant retinopathy (MONDO:1040053; AD; Definitive); PROM1-related recessive retinopathy (MONDO:1040052; AR; Definitive).
[ ] PRORP — HGNC:19958; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PROS1 — HGNC:9456; protein S deficiency (MONDO:0002304; SD; Definitive).
[ ] PRPF3 — HGNC:17348; retinitis pigmentosa 18 (MONDO:0011075; AD; Definitive).
[ ] PRPF31 — HGNC:15446; PRPF31-related retinopathy (MONDO:0800395; AD; Definitive).
[ ] PRPF8 — HGNC:17340; PRPF8-related retinopathy (MONDO:0700234; AD; Definitive).
[ ] PRPH2 — HGNC:9942; PRPH2-related retinopathy (MONDO:1040055; SD; Definitive).
[ ] PRPS1 — HGNC:9462; PRPS1 deficiency disorder (MONDO:0100061; XL; Definitive); phosphoribosylpyrophosphate synthetase superactivity (MONDO:0010395; XL; Limited).
[ ] PRR12 — HGNC:29217; neuroocular syndrome (MONDO:0859193; AD; Definitive).
[ ] PRRT2 — HGNC:30500; infantile convulsions and choreoathetosis (MONDO:0011178; AD; Definitive).
[ ] PRSS1 — HGNC:9475; hereditary chronic pancreatitis (MONDO:0008185; AD; Definitive).
[ ] PRSS56 — HGNC:39433; isolated microphthalmia 6 (MONDO:0013293; AR; Definitive).
[ ] PRX — HGNC:13797; Charcot-Marie-Tooth disease type 4 (MONDO:0018995; AR; Definitive).
[ ] PSAP — HGNC:9498; Gaucher disease due to saposin C deficiency (MONDO:0012517; AR; Definitive); Krabbe disease due to saposin A deficiency (MONDO:0012720; AR; Moderate); combined PSAP deficiency (MONDO:0012719; AR; Definitive); metachromatic leukodystrophy due to saposin B deficiency (MONDO:0009590; AR; Definitive).
[ ] PSAT1 — HGNC:19129; neurometabolic disorder due to serine deficiency (MONDO:0018162; AR; Definitive).
[ ] PSMD12 — HGNC:9557; Stankiewicz-Isidor syndrome (MONDO:0054591; AD; Definitive).
[ ] PTCH1 — HGNC:9585; holoprosencephaly (MONDO:0016296; AD; Limited); nevoid basal cell carcinoma syndrome (MONDO:0007187; AD; Definitive).
[ ] PTCHD1 — HGNC:26392; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] PTEN — HGNC:9588; PTEN hamartoma tumor syndrome (MONDO:0017623; AD; Definitive).
[ ] PTPN11 — HGNC:9644; Noonan syndrome (MONDO:0018997; AD; Definitive); Noonan syndrome with multiple lentigines (MONDO:0007893; AD; Definitive).
[ ] PTPRC — HGNC:9666; immunodeficiency 104 (MONDO:0012163; AR; Definitive).
[ ] PTPRQ — HGNC:9679; hearing loss, autosomal recessive (MONDO:0019588; AR; Definitive).
[ ] PTS — HGNC:9689; BH4-deficient hyperphenylalaninemia A (MONDO:0009863; AR; Definitive).
[ ] PUF60 — HGNC:17042; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] PURA — HGNC:9701; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] PUS1 — HGNC:15508; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] PXDN — HGNC:14966; anterior segment dysgenesis 7 (MONDO:0010015; AR; Definitive).
[ ] PYCR1 — HGNC:9721; autosomal recessive cutis laxa type 2B (MONDO:0013051; AR; Definitive).
[ ] PYGL — HGNC:9725; glycogen storage disease VI (MONDO:0009294; AR; Definitive).
[ ] PYGM — HGNC:9726; glycogen storage disease V (MONDO:0009293; AR; Definitive).
[ ] PYROXD1 — HGNC:26162; myofibrillar myopathy 8 (MONDO:0014993; AR; Definitive).
[ ] QARS1 — HGNC:9751; diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome (MONDO:0014335; AR; Definitive).
[ ] QDPR — HGNC:9752; dihydropteridine reductase deficiency (MONDO:0009862; AR; Definitive).
[ ] QRICH1 — HGNC:24713; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] RAB23 — HGNC:14263; RAB23-related Carpenter syndrome (MONDO:0008710; AR; Definitive).
[ ] RAB27A — HGNC:9766; Griscelli syndrome type 2 (MONDO:0011872; AR; Definitive).
[ ] RAB28 — HGNC:9768; RAB28-related retinopathy (MONDO:0100448; AR; Definitive).
[ ] RAB39B — HGNC:16499; early-onset parkinsonism-intellectual disability syndrome (MONDO:0010709; XL; Definitive).
[ ] RAB3GAP1 — HGNC:17063; Warburg micro syndrome (MONDO:0016649; AR; Definitive).
[ ] RAB3GAP2 — HGNC:17168; Warburg micro syndrome (MONDO:0016649; AR; Definitive).
[ ] RAB7A — HGNC:9788; Charcot-Marie-Tooth disease type 2 (MONDO:0018993; AD; Definitive).
[ ] RAC1 — HGNC:9801; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] RAD21 — HGNC:9811; Cornelia de Lange syndrome (MONDO:0016033; AD; Definitive).
[ ] RAD51C — HGNC:9820; Fanconi anemia complementation group O (MONDO:0013248; AR; Limited); RAD51C-related cancer predisposition (MONDO:0700273; AD; Definitive).
[ ] RAD51D — HGNC:9823; RAD51D-related cancer predisposition (MONDO:0700274; AD; Definitive).
[ ] RAF1 — HGNC:9829; Noonan syndrome (MONDO:0018997; AD; Definitive); Noonan syndrome with multiple lentigines (MONDO:0007893; AD; Limited).
[ ] RAG1 — HGNC:9831; recombinase activating gene 1 deficiency (MONDO:0000572; AR; Definitive).
[ ] RAG2 — HGNC:9832; recombinase activating gene 2 deficiency (MONDO:0000573; AR; Definitive).
[ ] RAI1 — HGNC:9834; Smith-Magenis syndrome (MONDO:0008434; AD; Definitive).
[ ] RALA — HGNC:9839; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] RARB — HGNC:9865; microphthalmia, syndromic 12 (MONDO:0014229; AD; Definitive).
[ ] RARS1 — HGNC:9870; hypomyelinating leukodystrophy 9 (MONDO:0014506; AR; Definitive).
[ ] RARS2 — HGNC:21406; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] RASGRP1 — HGNC:9878; immunodeficiency 64 (MONDO:0032803; AR; Definitive).
[ ] RASGRP2 — HGNC:9879; platelet-type bleeding disorder 18 (MONDO:0014386; AR; Definitive).
[ ] RB1 — HGNC:9884; retinoblastoma (MONDO:0008380; AD; Definitive).
[ ] RBCK1 — HGNC:15864; polyglucosan body myopathy 1 with or without immunodeficiency (MONDO:0014389; AR; Definitive).
[ ] RBM10 — HGNC:9896; TARP syndrome (MONDO:0010711; XL; Definitive).
[ ] RBM20 — HGNC:27424; dilated cardiomyopathy (MONDO:0005021; AD; Definitive); hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] RBM8A — HGNC:9905; thrombocytopenia-absent radius syndrome (MONDO:0010121; AR; Definitive).
[ ] RBP4 — HGNC:9922; progressive retinal dystrophy due to retinol transport defect (MONDO:0014060; AR; Definitive).
[ ] RCBTB1 — HGNC:18243; RCBTB1-related retinopathy (MONDO:0014955; AR; Definitive).
[ ] RD3 — HGNC:19689; RD3-related retinopathy (MONDO:0700235; AR; Definitive).
[ ] RDH12 — HGNC:19977; RDH12-related dominant retinopathy (MONDO:0800100; AD; Moderate); RDH12-related recessive retinopathy (MONDO:0800099; AR; Definitive).
[ ] RDH5 — HGNC:9940; RDH5-related retinopathy (MONDO:0100443; AR; Definitive).
[ ] RDX — HGNC:9944; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] RECQL4 — HGNC:9949; Rothmund-Thomson syndrome (MONDO:0010002; AR; Definitive).
[ ] REEP6 — HGNC:30078; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] RELA — HGNC:9955; combined immunodeficiency due to RELA haploinsufficiency (MONDO:0035694; AD; Definitive).
[ ] RELB — HGNC:9956; immunodeficiency 53 (MONDO:0054696; AR; Definitive).
[ ] RELN — HGNC:9957; lissencephaly with cerebellar hypoplasia (MONDO:0019450; AR; Definitive).
[ ] REN — HGNC:9958; familial juvenile hyperuricemic nephropathy type 2 (MONDO:0013128; AD; Definitive); renal tubular dysgenesis of genetic origin (MONDO:0009970; AR; Definitive).
[ ] RERE — HGNC:9965; complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465; AD; Definitive).
[ ] RET — HGNC:9967; multiple endocrine neoplasia type 2A (MONDO:0008234; AD; Definitive); multiple endocrine neoplasia type 2B (MONDO:0008082; AD; Definitive).
[ ] RETREG1 — HGNC:25964; hereditary sensory and autonomic neuropathy (MONDO:0015364; AR; Definitive).
[ ] RFC1 — HGNC:9969; cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (MONDO:0044720; AR; Definitive).
[ ] RFX3 — HGNC:9984; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] RFX5 — HGNC:9986; MHC class II deficiency (MONDO:0008855; AR; Definitive).
[ ] RFX6 — HGNC:21478; monogenic diabetes (MONDO:0015967; AD; Definitive).
[ ] RFX7 — HGNC:25777; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] RFXANK — HGNC:9987; MHC class II deficiency (MONDO:0008855; AR; Definitive).
[ ] RFXAP — HGNC:9988; MHC class II deficiency (MONDO:0008855; AR; Definitive).
[ ] RHBDF2 — HGNC:20788; palmoplantar keratoderma-esophageal carcinoma syndrome (MONDO:0007856; AD; Definitive).
[ ] RHO — HGNC:10012; RHO-related retinopathy (MONDO:0700380; SD; Definitive).
[ ] RHOBTB2 — HGNC:18756; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] RIN2 — HGNC:18750; RIN2 syndrome (MONDO:0013115; AR; Definitive).
[ ] RIPK1 — HGNC:10019; immunodeficiency 57 (MONDO:0020849; AR; Definitive).
[ ] RIT1 — HGNC:10023; Noonan syndrome (MONDO:0018997; AD; Definitive).
[ ] RLBP1 — HGNC:10024; RLBP1-related retinopathy (MONDO:0100444; AR; Definitive).
[ ] RMND1 — HGNC:21176; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] RNASEH2A — HGNC:18518; RNASEH2A-related type 1 interferonopathy (MONDO:0700259; AR; Definitive).
[ ] RNASEH2B — HGNC:25671; RNASEH2B-related type 1 interferonopathy (MONDO:0700257; AR; Definitive).
[ ] RNASEH2C — HGNC:24116; RNASEH2C-related type 1 interferonopathy (MONDO:0700258; AR; Definitive).
[ ] RNF168 — HGNC:26661; RIDDLE syndrome (MONDO:0012764; AR; Definitive).
[ ] RNF43 — HGNC:18505; sessile serrated polyposis cancer syndrome (MONDO:0014919; AD; Definitive).
[ ] ROBO3 — HGNC:13433; gaze palsy, familial horizontal, with progressive scoliosis 1 (MONDO:0020790; AR; Definitive).
[ ] ROGDI — HGNC:29478; amelocerebrohypohidrotic syndrome (MONDO:0009185; AR; Definitive).
[ ] RORB — HGNC:10259; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] RP1 — HGNC:10263; RP1-related dominant retinopathy (MONDO:0800400; SD; Definitive); RP1-related recessive retinopathy (MONDO:0800399; AR; Definitive).
[ ] RP1L1 — HGNC:15946; occult macular dystrophy (MONDO:0013316; AD; Definitive).
[ ] RP2 — HGNC:10274; RP2-related retinopathy (MONDO:0100442; XL; Definitive).
[ ] RPE65 — HGNC:10294; RPE65-related dominant retinopathy (MONDO:0100452; AD; Strong); RPE65-related recessive retinopathy (MONDO:0100368; AR; Definitive).
[ ] RPGR — HGNC:10295; RPGR-related retinopathy (MONDO:0100437; XL; Definitive).
[ ] RPGRIP1L — HGNC:29168; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] RPL10 — HGNC:10298; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] RPL5 — HGNC:10360; Diamond-Blackfan anemia 6 (MONDO:0012937; AD; Definitive).
[ ] RPS10 — HGNC:10383; Diamond-Blackfan anemia (MONDO:0015253; AD; Definitive).
[ ] RPS19 — HGNC:10402; Diamond-Blackfan anemia (MONDO:0015253; AD; Definitive).
[ ] RPS24 — HGNC:10411; Diamond-Blackfan anemia (MONDO:0015253; AD; Definitive).
[ ] RPS6KA3 — HGNC:10432; Coffin-Lowry syndrome (MONDO:0010561; XL; Definitive).
[ ] RRAS2 — HGNC:17271; Noonan syndrome (MONDO:0018997; AD; Definitive).
[ ] RS1 — HGNC:10457; X-linked retinoschisis (MONDO:0010725; XL; Definitive).
[ ] RSPH1 — HGNC:12371; primary ciliary dyskinesia 24 (MONDO:0014202; AR; Definitive).
[ ] RSPH3 — HGNC:21054; primary ciliary dyskinesia 32 (MONDO:0014657; AR; Definitive).
[ ] RSPH4A — HGNC:21558; primary ciliary dyskinesia 11 (MONDO:0012978; AR; Definitive).
[ ] RSPH9 — HGNC:21057; primary ciliary dyskinesia 12 (MONDO:0012979; AR; Definitive).
[ ] RSRC1 — HGNC:24152; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] RTEL1 — HGNC:15888; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 (MONDO:0014613; SD; Definitive).
[ ] RTN4IP1 — HGNC:18647; optic atrophy 10 with or without ataxia, intellectual disability, and seizures (MONDO:0020737; AR; Definitive).
[ ] RTTN — HGNC:18654; microcephalic primordial dwarfism due to RTTN deficiency (MONDO:0018764; AR; Definitive).
[ ] RUNX1 — HGNC:10471; hereditary thrombocytopenia and hematologic cancer predisposition syndrome (MONDO:0011071; AD; Definitive).
[ ] RXYLT1 — HGNC:13530; muscle-eye-brain disease (MONDO:0018939; AR; Definitive).
[ ] RYR1 — HGNC:10483; RYR1-related myopathy (MONDO:0100150; AD; Definitive); RYR1-related myopathy (MONDO:0100150; AR; Definitive); malignant hyperthermia, susceptibility to, 1 (MONDO:0007783; AD; Definitive).
[ ] RYR2 — HGNC:10484; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AD; Definitive); dilated cardiomyopathy (MONDO:0005021; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] SAG — HGNC:10521; retinitis pigmentosa 47 (MONDO:0013407; AR; Definitive).
[ ] SALL1 — HGNC:10524; Townes-Brocks syndrome 1 (MONDO:0054581; AD; Definitive).
[ ] SAMD9 — HGNC:1348; SAMD9-related spectrum and myeloid neoplasm risk (MONDO:0100628; AD; Definitive); normophosphatemic familial tumoral calcinosis (MONDO:0012502; AR; Limited).
[ ] SAMD9L — HGNC:1349; SAMD9L-related spectrum and myeloid neoplasm risk (MONDO:1060111; AD; Definitive).
[ ] SAMHD1 — HGNC:15925; SAMHD1-related type 1 interferonopathy (MONDO:0700260; AR; Definitive).
[ ] SASH3 — HGNC:15975; combined immunodeficiency, X-linked (MONDO:0010730; XL; Definitive).
[ ] SATB1 — HGNC:10541; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SATB2 — HGNC:21637; SATB2 associated disorder (MONDO:0100147; AD; Definitive).
[ ] SBDS — HGNC:19440; Shwachman-Diamond syndrome (MONDO:0009833; AR; Definitive).
[ ] SBF2 — HGNC:2135; Charcot-Marie-Tooth disease type 4B2 (MONDO:0011475; AR; Definitive).
[ ] SCAF4 — HGNC:19304; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SCAPER — HGNC:13081; intellectual developmental disorder and retinitis pigmentosa; IDDRP (MONDO:0032594; AR; Definitive).
[ ] SCARB2 — HGNC:1665; progressive myoclonus epilepsy (MONDO:0020074; AR; Definitive).
[ ] SCN11A — HGNC:10583; hereditary sensory and autonomic neuropathy type 7 (MONDO:0014244; AD; Definitive).
[ ] SCN1A — HGNC:10585; Dravet syndrome (MONDO:0100135; AD; Definitive); familial hemiplegic migraine (MONDO:0000700; AD; Moderate); generalized epilepsy with febrile seizures plus (MONDO:0018214; AD; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] SCN1B — HGNC:10586; generalized epilepsy with febrile seizures plus (MONDO:0018214; AD; Definitive); genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] SCN2A — HGNC:10588; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SCN3A — HGNC:10590; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] SCN4A — HGNC:10591; SCN4A-related myopathy, autosomal recessive (MONDO:0100121; AR; Definitive).
[ ] SCN5A — HGNC:10593; SCN5A-related cardiac rhythm disorder (MONDO:1010181; AD; Definitive); arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); dilated cardiomyopathy 1E (MONDO:0011003; AD; Definitive).
[ ] SCN8A — HGNC:10596; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SCNN1G — HGNC:10602; Liddle syndrome (MONDO:0008323; AD; Definitive).
[ ] SCO1 — HGNC:10603; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SCO2 — HGNC:10604; Charcot-Marie-Tooth disease (MONDO:0015626; AR; Moderate); Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SCP2 — HGNC:10606; sterol carrier protein 2 deficiency (MONDO:0013391; AR; Definitive).
[ ] SDCCAG8 — HGNC:10671; Bardet-Biedl syndrome 16 (MONDO:0014444; AR; Definitive).
[ ] SDHA — HGNC:10680; Leigh syndrome (MONDO:0009723; AR; Moderate); hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive); mitochondrial disease (MONDO:0044970; AD; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SDHAF1 — HGNC:33867; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SDHAF2 — HGNC:26034; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive).
[ ] SDHB — HGNC:10681; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SDHC — HGNC:10682; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive).
[ ] SDHD — HGNC:10683; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive); mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] SEC23B — HGNC:10702; congenital dyserythropoietic anemia type 2 (MONDO:0009134; AR; Definitive).
[ ] SEC63 — HGNC:21082; polycystic liver disease 2 (MONDO:0014860; AD; Definitive).
[ ] SELENON — HGNC:15999; SELENON-related myopathy (MONDO:0100100; AR; Definitive).
[ ] SEMA6B — HGNC:10739; progressive myoclonus epilepsy (MONDO:0020074; AD; Definitive).
[ ] SERAC1 — HGNC:21061; Leigh syndrome (MONDO:0009723; AR; Definitive).
[ ] SERPINC1 — HGNC:775; hereditary antithrombin deficiency (MONDO:0013144; SD; Definitive).
[ ] SERPIND1 — HGNC:4838; heparin cofactor 2 deficiency (MONDO:0012876; AD; Definitive).
[ ] SERPINE1 — HGNC:8583; congenital plasminogen activator inhibitor type 1 deficiency (MONDO:0013227; AR; Definitive).
[ ] SERPINF2 — HGNC:9075; alpha-2-plasmin inhibitor deficiency (MONDO:0009883; AR; Definitive).
[ ] SERPING1 — HGNC:1228; hereditary angioedema with C1Inh deficiency (MONDO:0033946; AD; Definitive).
[ ] SERPINI1 — HGNC:8943; progressive myoclonus epilepsy (MONDO:0020074; AD; Definitive).
[ ] SET — HGNC:10760; intellectual disability (MONDO:0001071; AD; Definitive).
[ ] SETBP1 — HGNC:15573; Schinzel-Giedion syndrome (MONDO:0010010; AD; Definitive); complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SETD1B — HGNC:29187; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SETD2 — HGNC:18420; SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome (MONDO:0035706; AD; Strong); SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth (MONDO:0800477; AD; Definitive).
[ ] SETD5 — HGNC:25566; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] SETX — HGNC:445; distal hereditary motor neuropathy (MONDO:0018894; AD; Definitive).
[ ] SF3B4 — HGNC:10771; SF3B4-related acrofacial dysostosis (MONDO:0800483; AD; Definitive).
[ ] SFTPA2 — HGNC:10799; interstitial lung disease 2 (MONDO:0800497; AD; Definitive).
[ ] SFTPB — HGNC:10801; surfactant metabolism dysfunction, pulmonary, 1 (MONDO:0009929; AR; Definitive).
[ ] SFTPC — HGNC:10802; SFTPC-related interstitial lung disease (MONDO:0018603; AD; Definitive).
[ ] SFXN4 — HGNC:16088; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SGCA — HGNC:10805; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] SGCB — HGNC:10806; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] SGCD — HGNC:10807; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive); dilated cardiomyopathy 1L (MONDO:0011702; AD; Limited).
[ ] SGCG — HGNC:10809; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] SGPL1 — HGNC:10817; nephrotic syndrome 14 (MONDO:0033203; AR; Definitive).
[ ] SGSH — HGNC:10818; mucopolysaccharidosis type 3A (MONDO:0009655; AR; Definitive).
[ ] SH2B3 — HGNC:29605; SH2B3-related immune system disorder (MONDO:1060195; SD; Definitive).
[ ] SH2D1A — HGNC:10820; X-linked lymphoproliferative disease due to SH2D1A deficiency (MONDO:0024551; XL; Definitive).
[ ] SH3PXD2B — HGNC:29242; Frank-Ter Haar syndrome (MONDO:0009579; AR; Definitive).
[ ] SH3TC2 — HGNC:29427; Charcot-Marie-Tooth disease type 4C (MONDO:0011113; AR; Definitive).
[ ] SHANK1 — HGNC:15474; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SHANK2 — HGNC:14295; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SHANK3 — HGNC:14294; Phelan-McDermid syndrome (MONDO:0011652; AD; Definitive).
[ ] SHH — HGNC:10848; holoprosencephaly 3 (MONDO:0007733; AD; Definitive).
[ ] SHOC2 — HGNC:15454; Noonan syndrome-like disorder with loose anagen hair (MONDO:0011899; AD; Definitive).
[ ] SIL1 — HGNC:24624; Marinesco-Sjogren syndrome (MONDO:0009567; AR; Definitive).
[ ] SIN3A — HGNC:19353; SIN3A-related intellectual disability syndrome (MONDO:0044699; AD; Definitive).
[ ] SIX1 — HGNC:10887; branchio-oto-renal syndrome (MONDO:0007029; AD; Definitive).
[ ] SKI — HGNC:10896; Shprintzen-Goldberg syndrome (MONDO:0008426; AD; Definitive).
[ ] SKIC2 — HGNC:10898; trichohepatoenteric syndrome 2 (MONDO:0013818; AR; Definitive).
[ ] SKIC3 — HGNC:23639; trichohepatoenteric syndrome 1 (MONDO:0024541; AR; Definitive).
[ ] SLC10A7 — HGNC:23088; short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (MONDO:0032703; AR; Definitive).
[ ] SLC11A2 — HGNC:10908; microcytic anemia with liver iron overload (MONDO:0008787; AR; Definitive).
[ ] SLC12A1 — HGNC:10910; obsolete antenatal Bartter syndrome (MONDO:0100343; AR; Definitive).
[ ] SLC16A2 — HGNC:10923; Allan-Herndon-Dudley syndrome (MONDO:0010354; XL; Definitive).
[ ] SLC17A5 — HGNC:10933; free sialic acid storage disease (MONDO:0019366; AR; Definitive).
[ ] SLC17A8 — HGNC:20151; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] SLC18A2 — HGNC:10935; brain dopamine-serotonin vesicular transport disease (MONDO:0018130; AR; Definitive).
[ ] SLC19A3 — HGNC:16266; Leigh syndrome (MONDO:0009723; AR; Definitive).
[ ] SLC1A2 — HGNC:10940; developmental and epileptic encephalopathy, 41 (MONDO:0014916; AD; Definitive).
[ ] SLC1A3 — HGNC:10941; episodic ataxia type 6 (MONDO:0012982; AD; Definitive).
[ ] SLC1A4 — HGNC:10942; spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome (MONDO:0014725; AR; Definitive).
[ ] SLC22A5 — HGNC:10969; systemic primary carnitine deficiency disease (MONDO:0008919; AR; Definitive).
[ ] SLC24A1 — HGNC:10975; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] SLC25A1 — HGNC:10979; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SLC25A13 — HGNC:10983; citrin deficiency (MONDO:0016602; AR; Definitive).
[ ] SLC25A15 — HGNC:10985; ornithine translocase deficiency (MONDO:0009393; AR; Definitive).
[ ] SLC25A20 — HGNC:1421; carnitine-acylcarnitine translocase deficiency (MONDO:0008918; AR; Definitive).
[ ] SLC25A22 — HGNC:19954; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] SLC25A24 — HGNC:20662; Fontaine progeroid syndrome (MONDO:0012853; AD; Definitive).
[ ] SLC25A26 — HGNC:20661; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SLC25A4 — HGNC:10990; Leigh syndrome (MONDO:0009723; AD; Limited); mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive (MONDO:0014175; AR; Definitive).
[ ] SLC25A46 — HGNC:25198; Leigh syndrome (MONDO:0009723; AR; Limited); neuropathy, hereditary motor and sensory, type 6B (MONDO:0014671; AR; Definitive).
[ ] SLC26A2 — HGNC:10994; SLC26A2-related skeletal dysplasia (MONDO:0100592; AR; Definitive).
[ ] SLC26A4 — HGNC:8818; Pendred syndrome (MONDO:0010134; AR; Definitive).
[ ] SLC29A3 — HGNC:23096; H syndrome (MONDO:0011273; AR; Definitive).
[ ] SLC2A1 — HGNC:11005; GLUT1 deficiency syndrome (MONDO:0000188; AD; Definitive).
[ ] SLC2A10 — HGNC:13444; arterial tortuosity syndrome (MONDO:0008818; AR; Definitive).
[ ] SLC30A2 — HGNC:11013; zinc deficiency, transient neonatal (MONDO:0011973; AD; Definitive).
[ ] SLC30A9 — HGNC:1329; psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome (MONDO:0044726; AR; Definitive).
[ ] SLC34A1 — HGNC:11019; hypercalcemia, infantile, 2 (MONDO:0014851; AR; Definitive).
[ ] SLC35A2 — HGNC:11022; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] SLC35D1 — HGNC:20800; schneckenbecken dysplasia (MONDO:0010013; AR; Definitive).
[ ] SLC38A8 — HGNC:32434; foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome (MONDO:0012216; AR; Definitive).
[ ] SLC39A13 — HGNC:20859; Ehlers-Danlos syndrome, spondylocheirodysplastic type (MONDO:0012873; AR; Definitive).
[ ] SLC39A4 — HGNC:17129; acrodermatitis enteropathica (MONDO:0008713; AR; Definitive).
[ ] SLC3A1 — HGNC:11025; cystinuria (MONDO:0009067; AR; Definitive).
[ ] SLC40A1 — HGNC:10909; hemochromatosis type 4 (MONDO:0011631; AD; Definitive).
[ ] SLC46A1 — HGNC:30521; hereditary folate malabsorption (MONDO:0009238; AR; Definitive).
[ ] SLC52A2 — HGNC:30224; Brown-Vialetto-van Laere syndrome 2 (MONDO:0013867; AR; Definitive).
[ ] SLC52A3 — HGNC:16187; Brown-Vialetto-van Laere syndrome 1 (MONDO:0024537; AR; Definitive).
[ ] SLC6A19 — HGNC:27960; Hartnup disease (MONDO:0009324; AR; Definitive).
[ ] SLC6A3 — HGNC:11049; SLC6A3-related dopamine transporter deficiency syndrome (MONDO:0700117; AR; Definitive).
[ ] SLC6A5 — HGNC:11051; hyperekplexia 3 (MONDO:0013827; AR; Definitive).
[ ] SLC6A8 — HGNC:11055; creatine transporter deficiency (MONDO:0010305; XL; Definitive).
[ ] SLC6A9 — HGNC:11056; atypical glycine encephalopathy (MONDO:0015010; AR; Definitive).
[ ] SLC7A7 — HGNC:11065; lysinuric protein intolerance (MONDO:0009109; AR; Definitive).
[ ] SLC7A9 — HGNC:11067; cystinuria (MONDO:0009067; AR; Definitive).
[ ] SLC9A6 — HGNC:11079; Christianson syndrome (MONDO:0010278; XL; Definitive).
[ ] SLITRK6 — HGNC:23503; high myopia-sensorineural deafness syndrome (MONDO:0009082; AR; Definitive).
[ ] SLX4 — HGNC:23845; Fanconi anemia complementation group P (MONDO:0013499; AR; Definitive).
[ ] SMAD2 — HGNC:6768; Loeys-Dietz syndrome 6 (MONDO:0030500; AD; Definitive); congenital heart disease (MONDO:0005453; AD; Definitive).
[ ] SMAD4 — HGNC:6770; Myhre syndrome (MONDO:0007688; AD; Definitive); juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (MONDO:0008278; AD; Definitive).
[ ] SMAD6 — HGNC:6772; SMAD6-related disease (MONDO:0700324; AD; Definitive).
[ ] SMAD9 — HGNC:6774; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] SMARCA2 — HGNC:11098; intellectual disability-sparse hair-brachydactyly syndrome (MONDO:0011053; AD; Definitive).
[ ] SMARCA4 — HGNC:11100; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive); hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited); rhabdoid tumor predisposition syndrome 2 (MONDO:0013224; AD; Definitive).
[ ] SMARCAL1 — HGNC:11102; Schimke immuno-osseous dysplasia (MONDO:0009458; AR; Definitive).
[ ] SMARCB1 — HGNC:11103; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive); rhabdoid tumor predisposition syndrome 1 (MONDO:0012252; AD; Definitive).
[ ] SMARCC1 — HGNC:11104; SMARCC1-associated developmental dysgenesis syndrome (MONDO:0700123; AD; Definitive).
[ ] SMARCC2 — HGNC:11105; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive).
[ ] SMARCE1 — HGNC:11109; Coffin-Siris syndrome (MONDO:0015452; AD; Definitive); familial meningioma (MONDO:0011789; AD; Definitive).
[ ] SMC1A — HGNC:11111; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] SMC3 — HGNC:2468; Cornelia de Lange syndrome (MONDO:0016033; AD; Definitive).
[ ] SMCHD1 — HGNC:29090; arhinia, choanal atresia, and microphthalmia (MONDO:0011323; AD; Definitive).
[ ] SMG8 — HGNC:25551; Alzahrani-Kuwahara syndrome (MONDO:0859136; AR; Definitive).
[ ] SMO — HGNC:11119; congenital hypothalamic hamartoma syndrome (MONDO:0009436; AR; Moderate); mosaic SMO syndrome (MONDO:1030005; AD; Definitive).
[ ] SMPD1 — HGNC:11120; acid sphingomyelinase deficiency (MONDO:0100464; AR; Definitive).
[ ] SMPX — HGNC:11122; nonsyndromic genetic hearing loss (MONDO:0019497; XL; Definitive).
[ ] SMS — HGNC:11123; syndromic X-linked intellectual disability Snyder type (MONDO:0010664; XL; Definitive).
[ ] SNAP25 — HGNC:11132; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] SNCA — HGNC:11138; Parkinson disease (MONDO:0005180; AD; Definitive).
[ ] SNRNP200 — HGNC:30859; SNRNP200-related dominant retinopathy (MONDO:0800098; AD; Definitive).
[ ] SNX10 — HGNC:14974; autosomal recessive osteopetrosis 8 (MONDO:0014040; AR; Definitive).
[ ] SNX14 — HGNC:14977; autosomal recessive spinocerebellar ataxia 20 (MONDO:0014601; AR; Definitive).
[ ] SOCS1 — HGNC:19383; autoinflammatory syndrome with immunodeficiency (MONDO:0800130; AD; Definitive).
[ ] SOD1 — HGNC:11179; amyotrophic lateral sclerosis type 1 (MONDO:0007103; AD; Definitive).
[ ] SON — HGNC:11183; ZTTK syndrome (MONDO:0014936; AD; Definitive).
[ ] SORD — HGNC:11184; Charcot-Marie-Tooth disease (MONDO:0015626; AR; Definitive).
[ ] SOS1 — HGNC:11187; Noonan syndrome (MONDO:0018997; AD; Definitive).
[ ] SOS2 — HGNC:11188; Noonan syndrome (MONDO:0018997; AD; Definitive).
[ ] SOX10 — HGNC:11190; Waardenburg syndrome type 4C (MONDO:0013202; AD; Definitive).
[ ] SOX11 — HGNC:11191; SOX11-related complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100626; AD; Definitive).
[ ] SOX17 — HGNC:18122; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] SOX5 — HGNC:11201; Lamb-Shaffer syndrome (MONDO:0014778; AD; Definitive).
[ ] SOX6 — HGNC:16421; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SOX9 — HGNC:11204; Cooks syndrome (MONDO:0007134; AD; Limited); campomelic dysplasia (MONDO:0007251; AD; Definitive); isolated Pierre-Robin syndrome (MONDO:0009869; AD; Limited).
[ ] SP110 — HGNC:5401; hepatic veno-occlusive disease-immunodeficiency syndrome (MONDO:0009338; AR; Definitive).
[ ] SPAG1 — HGNC:11212; primary ciliary dyskinesia 28 (MONDO:0014216; AR; Definitive).
[ ] SPART — HGNC:18514; Troyer syndrome (MONDO:0010156; AR; Definitive).
[ ] SPATA7 — HGNC:20423; inherited retinal dystrophy (MONDO:0019118; AR; Definitive).
[ ] SPEF2 — HGNC:26293; primary ciliary dyskinesia (MONDO:0016575; AR; Definitive).
[ ] SPEG — HGNC:16901; myopathy, centronuclear, 5 (MONDO:0014418; AR; Definitive).
[ ] SPEN — HGNC:17575; Radio-Tartaglia syndrome (MONDO:0859143; AD; Definitive).
[ ] SPG11 — HGNC:11226; hereditary spastic paraplegia 11 (MONDO:0011445; AR; Definitive).
[ ] SPG7 — HGNC:11237; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SPI1 — HGNC:11241; agammaglobulinemia 10, autosomal dominant (MONDO:0030529; AD; Definitive).
[ ] SPINK5 — HGNC:15464; Netherton syndrome (MONDO:0009735; AR; Definitive).
[ ] SPOP — HGNC:11254; neurodevelopmental disorder with microcephaly and dysmorphic facies (MONDO:0032942; AD; Moderate); neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies (MONDO:0032943; AD; Definitive).
[ ] SPR — HGNC:11257; dopa-responsive dystonia due to sepiapterin reductase deficiency (MONDO:0012994; AR; Definitive).
[ ] SPRED1 — HGNC:20249; Legius syndrome (MONDO:0012669; AD; Definitive).
[ ] SPTAN1 — HGNC:11273; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] SPTBN1 — HGNC:11275; developmental delay, impaired speech, and behavioral abnormalities (MONDO:0859178; AD; Definitive).
[ ] SPTBN2 — HGNC:11276; autosomal recessive spinocerebellar ataxia 14 (MONDO:0014159; AR; Definitive); spinocerebellar ataxia type 5 (MONDO:0010848; AD; Definitive).
[ ] SPTBN4 — HGNC:14896; neurodevelopmental disorder with hypotonia, neuropathy, and deafness (MONDO:0060496; AR; Definitive).
[ ] SPTLC1 — HGNC:11277; neuropathy, hereditary sensory and autonomic, type 1A (MONDO:0008086; AD; Definitive).
[ ] SPTLC2 — HGNC:11278; amyotrophic lateral sclerosis (MONDO:0004976; AD; Strong); neuropathy, hereditary sensory and autonomic, type 1C (MONDO:0013337; AD; Definitive).
[ ] SRCAP — HGNC:16974; Floating-Harbor syndrome (MONDO:0007621; AD; Definitive).
[ ] SRD5A3 — HGNC:25812; SRD5A3-congenital disorder of glycosylation (MONDO:0012885; AR; Definitive).
[ ] ST3GAL5 — HGNC:10872; GM3 synthase deficiency (MONDO:0018274; AR; Definitive).
[ ] STAC3 — HGNC:28423; Bailey-Bloch congenital myopathy (MONDO:0009722; AR; Definitive).
[ ] STAG1 — HGNC:11354; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] STAT1 — HGNC:11362; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency (MONDO:0013956; AD; Definitive); autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome (MONDO:0013599; AD; Definitive); immunodeficiency 31B (MONDO:0013427; AR; Definitive).
[ ] STAT3 — HGNC:11364; STAT3-related early-onset multisystem autoimmune disease (MONDO:0014414; AD; Definitive); hyper-IgE recurrent infection syndrome 1, autosomal dominant (MONDO:0007818; AD; Definitive).
[ ] STAT5B — HGNC:11367; growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (MONDO:0100219; AD; Moderate); growth hormone insensitivity with immune dysregulation 1, autosomal recessive (MONDO:0100211; AR; Definitive).
[ ] STIL — HGNC:10879; autosomal recessive primary microcephaly (MONDO:0016660; AR; Definitive).
[ ] STIM1 — HGNC:11386; combined immunodeficiency due to STIM1 deficiency (MONDO:0013008; AR; Definitive); tubular aggregate myopathy (MONDO:0008051; AD; Definitive).
[ ] STK11 — HGNC:11389; Peutz-Jeghers syndrome (MONDO:0008280; AD; Definitive).
[ ] STK4 — HGNC:11408; combined immunodeficiency due to STK4 deficiency (MONDO:0013934; AR; Definitive).
[ ] STRC — HGNC:16035; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] STT3A — HGNC:6172; STT3A-congenital disorder of glycosylation (MONDO:0014270; AR; Moderate); congenital disorder of glycosylation, type Iw, autosomal dominant (MONDO:0859223; AD; Definitive).
[ ] STX11 — HGNC:11429; familial hemophagocytic lymphohistiocytosis 4 (MONDO:0011336; AR; Definitive).
[ ] STX1B — HGNC:18539; generalized epilepsy with febrile seizures plus (MONDO:0018214; AD; Definitive).
[ ] STXBP1 — HGNC:11444; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Definitive).
[ ] STXBP2 — HGNC:11445; familial hemophagocytic lymphohistiocytosis 5 (MONDO:0013135; AR; Definitive).
[ ] SUCLA2 — HGNC:11448; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SUFU — HGNC:16466; ciliopathy (MONDO:0005308; AR; Limited); medulloblastoma (MONDO:0007959; AD; Definitive).
[ ] SUMF1 — HGNC:20376; mucosulfatidosis (MONDO:0010088; AR; Definitive).
[ ] SUOX — HGNC:11460; isolated sulfite oxidase deficiency (MONDO:0010089; AR; Definitive).
[ ] SURF1 — HGNC:11474; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] SYCE1 — HGNC:28852; SYCE1-related gametogenic failure (MONDO:1060214; AR; Definitive).
[ ] SYN1 — HGNC:11494; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] SYNCRIP — HGNC:16918; SYNCRIP-related neurodevelopmental disorder (MONDO:0800456; AD; Definitive).
[ ] SYNE1 — HGNC:17089; arthrogryposis multiplex congenita 3, myogenic type (MONDO:0032778; AR; Moderate); autosomal recessive ataxia, Beauce type (MONDO:0012549; AR; Definitive).
[ ] SYNGAP1 — HGNC:11497; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] SYNJ1 — HGNC:11503; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] SZT2 — HGNC:29040; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] TAB2 — HGNC:17075; congenital heart defects, multiple types, 2 (MONDO:0014000; AD; Definitive).
[ ] TACO1 — HGNC:24316; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TAFAZZIN — HGNC:11577; Barth syndrome (MONDO:0010543; XL; Definitive).
[ ] TANC2 — HGNC:30212; intellectual developmental disorder with autistic features and language delay, with or without seizures (MONDO:0030051; AD; Definitive).
[ ] TAOK1 — HGNC:29259; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] TAP1 — HGNC:43; MHC class I deficiency (MONDO:0011476; AR; Definitive).
[ ] TAP2 — HGNC:44; MHC class I deficiency (MONDO:0011476; AR; Definitive).
[ ] TARDBP — HGNC:11571; amyotrophic lateral sclerosis type 10 (MONDO:0012790; AD; Definitive).
[ ] TARS2 — HGNC:30740; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TAT — HGNC:11573; tyrosinemia type II (MONDO:0010160; AR; Definitive).
[ ] TBC1D24 — HGNC:29203; DOORS syndrome (MONDO:0009079; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] TBC1D32 — HGNC:21485; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TBCD — HGNC:11581; early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (MONDO:0044646; AR; Definitive).
[ ] TBCK — HGNC:28261; syndromic complex neurodevelopmental disorder (MONDO:0800439; AR; Definitive).
[ ] TBK1 — HGNC:11584; frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (MONDO:0014641; AD; Definitive).
[ ] TBL1XR1 — HGNC:29529; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TBR1 — HGNC:11590; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TBX20 — HGNC:11598; congenital heart disease (MONDO:0005453; AD; Definitive); dilated cardiomyopathy (MONDO:0005021; AD; Strong).
[ ] TBX22 — HGNC:11600; cleft palate with or without ankyloglossia, X-linked (MONDO:0010560; XL; Definitive).
[ ] TBX3 — HGNC:11602; ulnar-mammary syndrome (MONDO:0008411; AD; Definitive).
[ ] TBX4 — HGNC:11603; pulmonary arterial hypertension (MONDO:0015924; AD; Definitive).
[ ] TBX5 — HGNC:11604; Holt-Oram syndrome (MONDO:0007732; AD; Definitive).
[ ] TBXAS1 — HGNC:11609; ghosal hematodiaphyseal dysplasia (MONDO:0009274; AR; Definitive).
[ ] TCAP — HGNC:11610; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive); dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] TCF12 — HGNC:11623; TCF12-related craniosynostosis (MONDO:0014128; AD; Definitive).
[ ] TCF20 — HGNC:11631; developmental delay with variable intellectual impairment and behavioral abnormalities (MONDO:0032745; AD; Definitive).
[ ] TCF3 — HGNC:11633; autosomal agammaglobulinemia (MONDO:0011096; SD; Definitive).
[ ] TCF4 — HGNC:11634; Pitt-Hopkins syndrome (MONDO:0012589; AD; Definitive).
[ ] TCF7L2 — HGNC:11641; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TCIRG1 — HGNC:11647; autosomal recessive osteopetrosis 1 (MONDO:0009815; AR; Definitive); dysosteosclerosis (MONDO:0009138; AR; Limited).
[ ] TCN2 — HGNC:11653; transcobalamin II deficiency (MONDO:0010149; AR; Definitive).
[ ] TCOF1 — HGNC:11654; Treacher-Collins syndrome (MONDO:0002457; AD; Definitive).
[ ] TCTN1 — HGNC:26113; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TCTN2 — HGNC:25774; Joubert syndrome 24 (MONDO:0014724; AR; Definitive).
[ ] TCTN3 — HGNC:24519; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TDP2 — HGNC:17768; spinocerebellar ataxia, autosomal recessive 23 (MONDO:0014846; AR; Definitive).
[ ] TECRL — HGNC:27365; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AR; Definitive).
[ ] TECTA — HGNC:11720; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] TEK — HGNC:11724; TEK-related primary glaucoma (MONDO:0800182; AD; Definitive).
[ ] TELO2 — HGNC:29099; TELO2-related intellectual disability-neurodevelopmental disorder (MONDO:0014848; AR; Definitive).
[ ] TERT — HGNC:11730; dyskeratosis congenita, autosomal dominant 2 (MONDO:0013521; SD; Definitive).
[ ] TET3 — HGNC:28313; Beck-Fahrner syndrome (MONDO:0032922; AD; Definitive); Beck-Fahrner syndrome (MONDO:0032922; AR; Limited).
[ ] TFAP2B — HGNC:11743; TFAP2B-related congenital heart disease spectrum disorder (MONDO:1010098; AD; Definitive).
[ ] TFE3 — HGNC:11752; X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018; XL; Definitive).
[ ] TFR2 — HGNC:11762; hemochromatosis type 3 (MONDO:0011417; AR; Definitive).
[ ] TFRC — HGNC:11763; TFRC-related combined immunodeficiency (MONDO:0014760; AR; Definitive).
[ ] TGDS — HGNC:20324; Catel-Manzke syndrome (MONDO:0014507; AR; Definitive).
[ ] TGFB2 — HGNC:11768; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Definitive).
[ ] TGFBR1 — HGNC:11772; Loeys-Dietz syndrome (MONDO:0018954; AD; Definitive); multiple self-healing squamous epithelioma (MONDO:0007566; AD; Definitive).
[ ] TGFBR2 — HGNC:11773; Loeys-Dietz syndrome 2 (MONDO:0012427; AD; Definitive).
[ ] TH — HGNC:11782; tyrosine hydroxylase deficiency (MONDO:0100064; AR; Definitive).
[ ] THOC2 — HGNC:19073; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] THOC6 — HGNC:28369; THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome (MONDO:0013362; AR; Definitive).
[ ] THPO — HGNC:11795; amegakaryocytic thrombocytopenia, congenital, 2 (MONDO:0957575; SD; Definitive); thrombocythemia 1 (MONDO:0008554; AD; Definitive).
[ ] TIMM50 — HGNC:23656; 3-methylglutaconic aciduria type 9 (MONDO:0044724; AR; Definitive).
[ ] TIMM8A — HGNC:11817; deafness dystonia syndrome (MONDO:0010578; XL; Definitive).
[ ] TIMMDC1 — HGNC:1321; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TIMP3 — HGNC:11822; Sorsby fundus dystrophy (MONDO:0007640; AD; Definitive).
[ ] TINF2 — HGNC:11824; dyskeratosis congenita, autosomal dominant 3 (MONDO:0013522; AD; Definitive).
[ ] TK2 — HGNC:11831; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TLK2 — HGNC:11842; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TMC1 — HGNC:16513; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] TMEM106B — HGNC:22407; leukodystrophy, hypomyelinating, 16 (MONDO:0054791; AD; Definitive).
[ ] TMEM126A — HGNC:25382; autosomal recessive optic atrophy, OPA7 type (MONDO:0013069; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TMEM126B — HGNC:30883; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TMEM127 — HGNC:26038; hereditary pheochromocytoma-paraganglioma (MONDO:0017366; AD; Definitive).
[ ] TMEM216 — HGNC:25018; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TMEM231 — HGNC:37234; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TMEM237 — HGNC:14432; Joubert syndrome 14 (MONDO:0013745; AR; Definitive).
[ ] TMEM43 — HGNC:28472; arrhythmogenic right ventricular dysplasia 5 (MONDO:0011459; AD; Definitive).
[ ] TMEM67 — HGNC:28396; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] TMEM70 — HGNC:26050; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TMEM94 — HGNC:28983; intellectual developmental disorder with cardiac defects and dysmorphic facies (MONDO:0032672; AR; Definitive).
[ ] TMIE — HGNC:30800; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] TMPRSS3 — HGNC:11877; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] TMPRSS6 — HGNC:16517; IRIDA syndrome (MONDO:0008788; AR; Definitive).
[ ] TNFRSF13B — HGNC:18153; immunodeficiency, common variable, 2 (MONDO:0009413; AR; Definitive).
[ ] TNFRSF1A — HGNC:11916; TNF receptor 1-associated periodic fever syndrome (MONDO:0007727; AD; Definitive).
[ ] TNFRSF9 — HGNC:11924; immunodeficiency 109 with lymphoproliferation (MONDO:0859526; AR; Definitive).
[ ] TNFSF11 — HGNC:11926; autosomal recessive osteopetrosis 2 (MONDO:0009816; AR; Definitive).
[ ] TNNC1 — HGNC:11943; dilated cardiomyopathy 1Z (MONDO:0012745; AD; Definitive); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] TNNI3 — HGNC:11947; dilated cardiomyopathy 1FF (MONDO:0013211; AD; Strong); dilated cardiomyopathy 2A (MONDO:0012746; AR; Strong); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] TNNT1 — HGNC:11948; nemaline myopathy (MONDO:0018958; AD; Limited); nemaline myopathy 5 (MONDO:0011539; AR; Definitive).
[ ] TNNT2 — HGNC:11949; dilated cardiomyopathy 1D (MONDO:0011095; AD; Definitive).
[ ] TNPO3 — HGNC:17103; muscular dystrophy, limb-girdle, autosomal dominant (MONDO:0015151; AD; Definitive).
[ ] TNR — HGNC:11953; neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus (MONDO:0859212; AR; Definitive).
[ ] TNRC6B — HGNC:29190; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TOPORS — HGNC:21653; TOPORS-related retinopathy (MONDO:0700233; AD; Definitive).
[ ] TOR1AIP1 — HGNC:29456; TOR1AIP1-related multisystem disorder (MONDO:0100591; AR; Definitive); TOR1AIP1-related myopathy (MONDO:0100582; AR; Definitive).
[ ] TP53 — HGNC:11998; Li-Fraumeni syndrome (MONDO:0018875; AD; Definitive).
[ ] TP63 — HGNC:15979; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 (MONDO:0011428; AD; Definitive).
[ ] TPM1 — HGNC:12010; dilated cardiomyopathy 1Y (MONDO:0012744; AD; Moderate); hypertrophic cardiomyopathy (MONDO:0005045; AD; Definitive).
[ ] TPM2 — HGNC:12011; TPM2-related myopathy (MONDO:0100196; AD; Definitive).
[ ] TPM3 — HGNC:12012; TPM3-related myopathy (MONDO:0100108; AD; Definitive); TPM3-related myopathy (MONDO:0100108; AR; Definitive).
[ ] TPP1 — HGNC:2073; neuronal ceroid lipofuscinosis (MONDO:0016295; AR; Definitive).
[ ] TPP2 — HGNC:12016; immunodeficiency 78 with autoimmunity and developmental delay (MONDO:0030971; AR; Definitive).
[ ] TPRN — HGNC:26894; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Definitive).
[ ] TRA2B — HGNC:10781; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] TRAF7 — HGNC:20456; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] TRAPPC11 — HGNC:25751; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] TRAPPC4 — HGNC:19943; neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy (MONDO:0032894; AR; Definitive).
[ ] TRAPPC6B — HGNC:23066; neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy (MONDO:0060640; AR; Definitive).
[ ] TRAPPC9 — HGNC:30832; intellectual disability-obesity-brain malformations-facial dysmorphism syndrome (MONDO:0018123; AR; Definitive).
[ ] TRDN — HGNC:12261; catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990; AR; Definitive); long QT syndrome (MONDO:0002442; AR; Strong).
[ ] TREX1 — HGNC:12269; TREX1-related type 1 interferonopathy (MONDO:0700256; AD; Definitive); TREX1-related type 1 interferonopathy (MONDO:0700256; AR; Definitive); retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (MONDO:0008641; AD; Definitive).
[ ] TRIM32 — HGNC:16380; Bardet-Biedl syndrome 11 (MONDO:0014439; AR; Limited); autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Definitive).
[ ] TRIM37 — HGNC:7523; mulibrey nanism (MONDO:0009664; AR; Definitive).
[ ] TRIM8 — HGNC:15579; focal segmental glomerulosclerosis and neurodevelopmental syndrome (MONDO:0100111; AD; Definitive).
[ ] TRIO — HGNC:12303; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] TRIOBP — HGNC:17009; hearing loss, autosomal recessive (MONDO:0019588; AR; Definitive).
[ ] TRIP11 — HGNC:12305; TRIP11-related skeletal dysplasia (MONDO:1040009; AR; Definitive).
[ ] TRIP12 — HGNC:12306; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] TRIT1 — HGNC:20286; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TRMT1 — HGNC:25980; complex neurodevelopmental disorder (MONDO:0100038; AR; Definitive).
[ ] TRMT5 — HGNC:23141; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TRMU — HGNC:25481; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TRNT1 — HGNC:17341; congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome (MONDO:0014487; AR; Definitive).
[ ] TRPM1 — HGNC:7146; TRPM1-related retinopathy (MONDO:0800402; AR; Definitive).
[ ] TRPM3 — HGNC:17992; cataract 50 with or without glaucoma (MONDO:0859382; AD; Moderate); syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] TRPV4 — HGNC:18083; TRPV4-related bone disorder (MONDO:0018240; AD; Definitive); neuromuscular disease (MONDO:0019056; AD; Definitive).
[ ] TRRAP — HGNC:12347; complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465; AD; Definitive).
[ ] TSFM — HGNC:12367; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TSPAN12 — HGNC:21641; TSPAN12-related exudative vitreoretinopathy (MONDO:0700231; SD; Definitive).
[ ] TTC12 — HGNC:23700; ciliary dyskinesia, primary, 45 (MONDO:0032924; AR; Definitive).
[ ] TTC19 — HGNC:26006; Leigh syndrome (MONDO:0009723; AR; Definitive); mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TTC21B — HGNC:25660; nephronophthisis 12 (MONDO:0013442; AR; Definitive).
[ ] TTC7A — HGNC:19750; multiple intestinal atresia (MONDO:0009465; AR; Definitive).
[ ] TTC8 — HGNC:20087; TTC8-related ciliopathy (MONDO:1040049; AR; Definitive).
[ ] TTLL5 — HGNC:19963; TTLL5-related retinopathy (MONDO:1040038; AR; Definitive).
[ ] TTN — HGNC:12403; TTN-related myopathy (MONDO:0100175; AR; Definitive); TTN-related myopathy, dominant-negative TTNsv (MONDO:1060225; AD; Moderate); dilated cardiomyopathy 1G (MONDO:0011400; AD; Definitive); hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited); myopathy, myofibrillar, 9, with early respiratory failure (MONDO:0011362; AD; Definitive); tibial muscular dystrophy (MONDO:0010870; AD; Moderate).
[ ] TTR — HGNC:12405; obsolete hereditary ATTR amyloidosis (MONDO:0017132; AD; Definitive).
[ ] TUBA1A — HGNC:20766; tubulinopathy (MONDO:0100153; AD; Definitive).
[ ] TUBB1 — HGNC:16257; macrothrombocytopenia, isolated, 1, autosomal dominant (MONDO:0800047; AD; Definitive).
[ ] TUBB2A — HGNC:12412; tubulinopathy (MONDO:0100153; AD; Definitive).
[ ] TUBB2B — HGNC:30829; complex cortical dysplasia with other brain malformations (MONDO:0000904; AD; Definitive).
[ ] TUBB3 — HGNC:20772; TUBB3-related tubulinopathy (MONDO:0100154; AD; Definitive).
[ ] TUBB4A — HGNC:20774; TUBB4A-related neurologic disorder (MONDO:0800470; AD; Definitive).
[ ] TUBB4B — HGNC:20771; TUBB4B-related ciliopathy (MONDO:1060115; AD; Definitive).
[ ] TUBG1 — HGNC:12417; lissencephaly spectrum disorders (MONDO:0018838; AD; Definitive).
[ ] TUBGCP6 — HGNC:18127; microcephaly and chorioretinopathy 1 (MONDO:0009624; AR; Definitive).
[ ] TULP1 — HGNC:12423; Leber congenital amaurosis 15 (MONDO:0013457; AR; Definitive).
[ ] TUSC3 — HGNC:30242; intellectual disability (MONDO:0001071; AR; Definitive).
[ ] TWIST1 — HGNC:12428; Saethre-Chotzen syndrome (MONDO:0007042; AD; Definitive); Sweeney-Cox syndrome (MONDO:0060592; AD; Limited); TWIST1-related craniosynostosis (MONDO:0007399; AD; Moderate).
[ ] TWNK — HGNC:1160; Perrault syndrome 5 (MONDO:0014504; AR; Definitive).
[ ] TXNL4A — HGNC:30551; choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (MONDO:0012064; AR; Definitive).
[ ] TYMP — HGNC:3148; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] TYR — HGNC:12442; oculocutaneous albinism type 1 (MONDO:0018135; AR; Definitive).
[ ] UBA2 — HGNC:30661; ACCES syndrome (MONDO:0859262; AD; Definitive).
[ ] UBA5 — HGNC:23230; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] UBE2A — HGNC:12472; syndromic X-linked intellectual disability Nascimento type (MONDO:0010461; XL; Definitive).
[ ] UBE3A — HGNC:12496; Angelman syndrome (MONDO:0007113; AD; Definitive).
[ ] UBE3B — HGNC:13478; oculocerebrofacial syndrome, Kaufman type (MONDO:0009485; AR; Definitive).
[ ] UBQLN2 — HGNC:12509; amyotrophic lateral sclerosis type 15 (MONDO:0010459; XL; Definitive).
[ ] UBR1 — HGNC:16808; Johanson-Blizzard syndrome (MONDO:0009479; AR; Definitive).
[ ] UBTF — HGNC:12511; childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (MONDO:0044701; AD; Definitive).
[ ] UCHL1 — HGNC:12513; hereditary spastic paraplegia (MONDO:0019064; AD; Definitive); hereditary spastic paraplegia (MONDO:0019064; AR; Moderate).
[ ] UFM1 — HGNC:20597; leukodystrophy, hypomyelinating, 14 (MONDO:0033486; AR; Definitive).
[ ] UMOD — HGNC:12559; autosomal dominant medullary cystic kidney disease with or without hyperuricemia (MONDO:0008264; AD; Definitive).
[ ] UNC13A — HGNC:23150; neurodevelopmental disorder with hypotonia, epilepsy, and absent speech (MONDO:0980940; AR; Definitive); neurodevelopmental disorder with speech delay, movement abnormalities, and seizures (MONDO:0980941; AD; Definitive).
[ ] UNC13D — HGNC:23147; familial hemophagocytic lymphohistiocytosis 3 (MONDO:0012146; AR; Definitive).
[ ] UNC80 — HGNC:26582; hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (MONDO:0014777; AR; Definitive).
[ ] UPF3B — HGNC:20439; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] UROD — HGNC:12591; UROD-related inherited porphyria (MONDO:0100498; SD; Definitive).
[ ] UROS — HGNC:12592; cutaneous porphyria (MONDO:0009902; AR; Definitive).
[ ] USH1C — HGNC:12597; Usher syndrome type 1 (MONDO:0010168; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] USH2A — HGNC:12601; Usher syndrome type 2 (MONDO:0016484; AR; Definitive).
[ ] USP7 — HGNC:12630; Hao-Fountain syndrome (MONDO:0014805; AD; Definitive).
[ ] USP9X — HGNC:12632; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] VAPB — HGNC:12649; amyotrophic lateral sclerosis type 8 (MONDO:0012077; AD; Definitive).
[ ] VARS1 — HGNC:12651; neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy (MONDO:0060621; AR; Definitive).
[ ] VARS2 — HGNC:21642; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] VCAN — HGNC:2464; Wagner disease (MONDO:0007740; AD; Definitive).
[ ] VCP — HGNC:12666; inclusion body myopathy with Paget disease of bone and frontotemporal dementia (MONDO:0000507; AD; Definitive).
[ ] VHL — HGNC:12687; von Hippel-Lindau disease (MONDO:0008667; AD; Definitive).
[ ] VIPAS39 — HGNC:20347; arthrogryposis, renal dysfunction, and cholestasis 2 (MONDO:0013255; AR; Definitive).
[ ] VLDLR — HGNC:12698; cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (MONDO:0024542; AR; Definitive).
[ ] VPS11 — HGNC:14583; VPS11-related neurological disorder (MONDO:0100617; AR; Definitive).
[ ] VPS13B — HGNC:2183; Cohen syndrome (MONDO:0008999; AR; Definitive).
[ ] VPS33A — HGNC:18179; mucopolysaccharidosis-plus syndrome (MONDO:0015012; AR; Definitive).
[ ] VPS33B — HGNC:12712; arthrogryposis, renal dysfunction, and cholestasis 1 (MONDO:0008822; AR; Definitive).
[ ] VPS35 — HGNC:13487; Parkinson disease (MONDO:0005180; AD; Definitive).
[ ] VWF — HGNC:12726; hereditary von Willebrand disease (MONDO:0019565; AD; Definitive); von Willebrand disease type 2B (MONDO:0015629; AD; Definitive).
[ ] WAC — HGNC:17327; DeSanto-Shinawi syndrome (MONDO:0018760; AD; Definitive).
[ ] WARS2 — HGNC:12730; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] WAS — HGNC:12731; Wiskott-Aldrich syndrome (MONDO:0010518; XL; Definitive); X-linked severe congenital neutropenia (MONDO:0010294; XL; Definitive).
[ ] WDFY3 — HGNC:20751; syndromic intellectual disability (MONDO:0000508; AD; Definitive).
[ ] WDPCP — HGNC:28027; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] WDR19 — HGNC:18340; ciliopathy (MONDO:0005308; AR; Definitive).
[ ] WDR26 — HGNC:21208; Skraban-Deardorff syndrome (MONDO:0054636; AD; Definitive).
[ ] WDR35 — HGNC:29250; cranioectodermal dysplasia 2 (MONDO:0013323; AR; Definitive); short-rib thoracic dysplasia 7 with or without polydactyly (MONDO:0013569; AR; Definitive).
[ ] WDR37 — HGNC:31406; neurooculocardiogenitourinary syndrome (MONDO:0032850; AD; Definitive).
[ ] WDR45 — HGNC:28912; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] WDR62 — HGNC:24502; microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MONDO:0011435; AR; Definitive).
[ ] WDR72 — HGNC:26790; amelogenesis imperfecta (MONDO:0019507; AR; Definitive).
[ ] WFS1 — HGNC:12762; Wolfram syndrome (MONDO:0018105; AR; Definitive); Wolfram-like syndrome (MONDO:0013673; AD; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AD; Definitive).
[ ] WHRN — HGNC:16361; Usher syndrome type 2D (MONDO:0012662; AR; Definitive); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] WIPF1 — HGNC:12736; Wiskott-Aldrich syndrome 2 (MONDO:0013779; AR; Definitive).
[ ] WNK1 — HGNC:14540; neuropathy, hereditary sensory and autonomic, type 2A (MONDO:0024309; AR; Definitive).
[ ] WNK4 — HGNC:14544; pseudohypoaldosteronism type 2B (MONDO:0013777; AD; Definitive).
[ ] WNT10A — HGNC:13829; ectodermal dysplasia WNT10A related (MONDO:0100358; SD; Definitive).
[ ] WRN — HGNC:12791; Werner syndrome (MONDO:0010196; AR; Definitive).
[ ] WT1 — HGNC:12796; Denys-Drash syndrome (MONDO:0008682; AD; Definitive); Wilms tumor 1 (MONDO:0008679; AD; Definitive).
[ ] WWOX — HGNC:12799; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Definitive).
[ ] XIAP — HGNC:592; X-linked lymphoproliferative disease due to XIAP deficiency (MONDO:0010385; XL; Definitive).
[ ] XPA — HGNC:12814; xeroderma pigmentosum group A (MONDO:0010210; AR; Definitive).
[ ] XPC — HGNC:12816; xeroderma pigmentosum group C (MONDO:0010211; AR; Definitive).
[ ] XPNPEP3 — HGNC:28052; nephronophthisis-like nephropathy 1 (MONDO:0013163; AR; Definitive).
[ ] YARS1 — HGNC:12840; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Definitive).
[ ] YARS2 — HGNC:24249; mitochondrial disease (MONDO:0044970; AR; Definitive).
[ ] YIF1B — HGNC:30511; Kaya-Barakat-Masson syndrome (MONDO:0030878; AR; Definitive).
[ ] YY1 — HGNC:12856; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ZAP70 — HGNC:12858; combined immunodeficiency due to ZAP70 deficiency (MONDO:0010023; AR; Definitive).
[ ] ZBTB11 — HGNC:16740; syndromic complex neurodevelopmental disorder (MONDO:0800439; AR; Definitive).
[ ] ZBTB18 — HGNC:13030; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ZBTB20 — HGNC:13503; Primrose syndrome (MONDO:0009798; AD; Definitive).
[ ] ZBTB24 — HGNC:21143; immunodeficiency-centromeric instability-facial anomalies syndrome 2 (MONDO:0013553; AR; Definitive).
[ ] ZC4H2 — HGNC:24931; X-linked syndromic intellectual disability (MONDO:0020119; XL; Definitive).
[ ] ZDHHC9 — HGNC:18475; syndromic X-linked intellectual disability Raymond type (MONDO:0010427; XL; Definitive).
[ ] ZEB2 — HGNC:14881; Mowat-Wilson syndrome (MONDO:0009341; AD; Definitive).
[ ] ZIC1 — HGNC:12872; craniosynostosis 6 (MONDO:0014705; AD; Definitive).
[ ] ZIC3 — HGNC:12874; congenital heart disease with heterotaxy syndrome (MONDO:1060197; XL; Definitive).
[ ] ZMIZ1 — HGNC:16493; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ZMPSTE24 — HGNC:12877; mandibuloacral dysplasia with type B lipodystrophy (MONDO:0012074; AR; Definitive); obsolete lethal restrictive dermopathy (MONDO:0010143; AR; Definitive).
[ ] ZMYM2 — HGNC:12989; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] ZMYND10 — HGNC:19412; primary ciliary dyskinesia 22 (MONDO:0014192; AR; Definitive).
[ ] ZMYND11 — HGNC:16966; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] ZMYND8 — HGNC:9397; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Definitive).
[ ] ZNF292 — HGNC:18410; complex neurodevelopmental disorder (MONDO:0100038; AD; Definitive).
[ ] ZNF341 — HGNC:15992; hyper-IgE recurrent infection syndrome 3, autosomal recessive (MONDO:0032654; AR; Definitive).
[ ] ZNF462 — HGNC:21684; Weiss-Kruszka syndrome (MONDO:0032836; AD; Definitive).
[ ] ZNF711 — HGNC:13128; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Definitive).
[ ] ZSWIM6 — HGNC:29316; acromelic frontonasal dysostosis (MONDO:0011359; AD; Definitive).

Nuclear Mendelian protein-coding genes: Strong (67 genes)

[ ] ALG2 — HGNC:23159; ALG2-congenital disorder of glycosylation (MONDO:0011933; AR; Strong).
[ ] AP1G1 — HGNC:555; complex neurodevelopmental disorder (MONDO:0100038; AD; Strong); complex neurodevelopmental disorder (MONDO:0100038; AR; Limited).
[ ] APC2 — HGNC:24036; lissencephaly spectrum disorders (MONDO:0018838; AR; Strong).
[ ] ATG7 — HGNC:16935; spinocerebellar ataxia, autosomal recessive 31 (MONDO:0030323; AR; Strong).
[ ] ATP5PO — HGNC:850; mitochondrial disease (MONDO:0044970; AR; Strong).
[ ] BGN — HGNC:1044; Meester-Loeys syndrome (MONDO:0010515; XL; Strong); familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Limited).
[ ] CAMK2D — HGNC:1462; CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy (MONDO:1040008; AD; Strong).
[ ] CDKN1C — HGNC:1786; Beckwith-Wiedemann syndrome due to CDKN1C mutation (MONDO:0016476; AD; Strong).
[ ] CEACAM16 — HGNC:31948; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Strong).
[ ] CEP78 — HGNC:25740; cone-rod dystrophy and hearing loss (MONDO:0014980; AR; Strong).
[ ] CFAP54 — HGNC:26456; ciliary dyskinesia, primary, 54 (MONDO:0100607; AR; Strong).
[ ] CLXN — HGNC:25678; ciliary dyskinesia, primary, 53 (MONDO:0957991; AR; Strong).
[ ] COQ7 — HGNC:2244; distal hereditary motor neuropathy (MONDO:0018894; AR; Strong).
[ ] COX6A1 — HGNC:2277; mitochondrial disease (MONDO:0044970; AR; Strong).
[ ] DNAH6 — HGNC:2951; spermatogenic failure (MONDO:0004983; AR; Strong).
[ ] DNAH8 — HGNC:2952; spermatogenic failure 46 (MONDO:0033673; AR; Strong).
[ ] DOCK11 — HGNC:23483; autoinflammatory disease, multisystem, with immune dysregulation, X-linked (MONDO:0957494; XL; Strong).
[ ] EDEM3 — HGNC:16787; congenital disorder of glycosylation, type 2v (MONDO:0030423; AR; Strong).
[ ] EMG1 — HGNC:16912; Bowen-Conradi syndrome (MONDO:0008879; AR; Strong).
[ ] FAT1 — HGNC:3595; focal segmental glomerulosclerosis (MONDO:0100313; AR; Strong).
[ ] GALM — HGNC:24063; galactosemia 4 (MONDO:0030105; AR; Strong).
[ ] GALNT2 — HGNC:4124; congenital disorder of glycosylation, type iit (MONDO:0030043; AR; Strong).
[ ] GDAP2 — HGNC:18010; spinocerebellar ataxia, autosomal recessive 27 (MONDO:0032706; AR; Strong).
[ ] GPR161 — HGNC:23694; GPR161-related medulloblastoma predisposition (MONDO:1010204; AD; Strong).
[ ] H4C5 — HGNC:4790; Tessadori-Van Haaften neurodevelopmental syndrome 3 (MONDO:0030993; AD; Strong).
[ ] HMOX1 — HGNC:5013; heme oxygenase 1 deficiency (MONDO:0013536; AR; Strong).
[ ] JPH2 — HGNC:14202; cardiomyopathy, dilated, 2E (MONDO:0030366; AR; Strong); dilated cardiomyopathy (MONDO:0005021; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Moderate).
[ ] KDM4B — HGNC:29136; intellectual developmental disorder, autosomal dominant 65 (MONDO:0023657; AD; Strong).
[ ] KIAA1549 — HGNC:22219; retinitis pigmentosa 86 (MONDO:0032834; AR; Strong).
[ ] KIF26A — HGNC:20226; complex cortical dysplasia with other brain malformations (MONDO:0000904; AR; Strong).
[ ] LAMP3 — HGNC:14582; inherited interstitial lung disease (MONDO:0031199; AR; Strong).
[ ] LDB3 — HGNC:15710; cardiomyopathy, dilated, 2l (MONDO:0979236; AR; Strong); dilated cardiomyopathy 1C (MONDO:0011094; AD; Limited).
[ ] LHX2 — HGNC:6594; complex neurodevelopmental disorder (MONDO:0100038; AD; Strong).
[ ] LOX — HGNC:6664; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Strong).
[ ] MAB21L1 — HGNC:6757; cerebellar, ocular, craniofacial, and genital syndrome (MONDO:0032774; AR; Strong).
[ ] MAP1B — HGNC:6836; periventricular nodular heterotopia (MONDO:0020341; AD; Strong).
[ ] MAP3K20 — HGNC:17797; myopathy, centronuclear, 6, with fiber-type disproportion (MONDO:0054695; AR; Strong).
[ ] MINAR2 — HGNC:33914; hearing loss, autosomal recessive 120 (MONDO:0859374; AR; Strong).
[ ] MPZL2 — HGNC:3496; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Strong).
[ ] MYLK — HGNC:7590; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Strong).
[ ] NEMF — HGNC:10663; intellectual developmental disorder with speech delay and axonal peripheral neuropathy (MONDO:0030849; AR; Strong).
[ ] NEXN — HGNC:29557; dilated cardiomyopathy 1CC (MONDO:0013147; AD; Strong); hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] NGF — HGNC:7808; hereditary sensory and autonomic neuropathy (MONDO:0015364; AR; Strong).
[ ] NRAP — HGNC:7988; dilated cardiomyopathy (MONDO:0005021; AR; Strong).
[ ] PIP5K1C — HGNC:8996; PIP5K1C-related neurodevelopmental disorder (MONDO:1010145; AD; Strong).
[ ] PPA2 — HGNC:28883; dilated cardiomyopathy (MONDO:0005021; AR; Strong).
[ ] PPOX — HGNC:9280; variegate porphyria (MONDO:0008297; SD; Strong).
[ ] PPP1R12A — HGNC:7618; genitourinary and/or brain malformation syndrome (MONDO:0032934; AD; Strong).
[ ] PRDM16 — HGNC:14000; dilated cardiomyopathy (MONDO:0005021; AD; Strong).
[ ] PRKG1 — HGNC:9414; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Strong).
[ ] PTCRA — HGNC:21290; immunodeficiency 126, susceptibility to (MONDO:0975761; AR; Strong).
[ ] RAC2 — HGNC:9802; immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia (MONDO:0033554; AD; Strong); immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia (MONDO:0033555; AR; Moderate); neutrophil immunodeficiency syndrome (MONDO:0011988; AD; Moderate).
[ ] RBFOX2 — HGNC:9906; congenital heart disease (MONDO:0005453; AD; Strong).
[ ] RIPOR2 — HGNC:13872; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Limited); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Strong).
[ ] S1PR2 — HGNC:3169; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Strong).
[ ] SCNN1A — HGNC:10599; pseudohypoaldosteronism, type IB1, autosomal recessive (MONDO:0009917; AR; Strong).
[ ] SLC35C1 — HGNC:20197; leukocyte adhesion deficiency type II (MONDO:0009953; AR; Strong).
[ ] SLC4A10 — HGNC:13811; complex neurodevelopmental disorder (MONDO:0100038; AR; Strong).
[ ] SNUPN — HGNC:14245; SNUPN-related muscular dystrophy with or without multi-system involvement (MONDO:0100584; AR; Strong).
[ ] SSBP1 — HGNC:11317; Leigh syndrome (MONDO:0009723; AD; Limited); optic atrophy 13 with retinal and foveal abnormalities (MONDO:0008135; AD; Strong).
[ ] STAT6 — HGNC:11368; hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (MONDO:0957807; AD; Strong).
[ ] TP73 — HGNC:12003; ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:0030346; AR; Strong).
[ ] TULP3 — HGNC:12425; ciliopathy (MONDO:0005308; AR; Strong).
[ ] TXNDC15 — HGNC:20652; ciliopathy (MONDO:0005308; AR; Strong).
[ ] VCL — HGNC:12665; dilated cardiomyopathy 1W (MONDO:0012667; AD; Strong).
[ ] ZFHX4 — HGNC:30939; syndromic complex neurodevelopmental disorder (MONDO:0800439; AD; Strong).
[ ] ZFX — HGNC:12869; X-linked syndromic complex neurodevelopmental disorder (MONDO:1040018; XL; Strong).

Nuclear Mendelian protein-coding genes: Moderate (340 genes)

[ ] ABAT — HGNC:23; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Moderate).
[ ] ABCB6 — HGNC:47; dyschromatosis universalis hereditaria 3 (MONDO:0014169; AD; Moderate); microphthalmia, isolated, with coloboma 7 (MONDO:0013783; AD; Limited).
[ ] ABCB7 — HGNC:48; mitochondrial disease (MONDO:0044970; XL; Moderate).
[ ] ABCC4 — HGNC:55; qualitative platelet defect (MONDO:0001197; AR; Moderate).
[ ] ABCD4 — HGNC:68; methylmalonic acidemia with homocystinuria, type cblJ (MONDO:0013925; AR; Moderate).
[ ] ACTL6A — HGNC:24124; ACTL6A-related BAFopathy (MONDO:0700121; AD; Moderate).
[ ] ADAT3 — HGNC:25151; intellectual disability-strabismus syndrome (MONDO:0014119; AR; Moderate).
[ ] ADD3 — HGNC:245; complex neurodevelopmental disorder with motor features (MONDO:0100516; AR; Moderate).
[ ] ALAD — HGNC:395; porphyria due to ALA dehydratase deficiency (MONDO:0013000; AR; Moderate).
[ ] ALG11 — HGNC:32456; ALG11-congenital disorder of glycosylation (MONDO:0013349; AR; Moderate).
[ ] ALG5 — HGNC:20266; autosomal dominant polycystic kidney disease (MONDO:0004691; AD; Moderate).
[ ] ANAPC1 — HGNC:19988; Rothmund-Thomson syndrome type 1 (MONDO:0016368; AR; Moderate).
[ ] ANK3 — HGNC:494; intellectual disability (MONDO:0001071; AR; Moderate).
[ ] ANO6 — HGNC:25240; Scott syndrome (MONDO:0009885; AR; Moderate).
[ ] AP3D1 — HGNC:568; Hermansky-Pudlak syndrome 10 (MONDO:0014885; AR; Moderate).
[ ] ARHGDIA — HGNC:678; nephrotic syndrome, type 8 (MONDO:0014099; AR; Moderate).
[ ] ARHGEF18 — HGNC:17090; inherited retinal dystrophy (MONDO:0019118; AR; Moderate).
[ ] ATL3 — HGNC:24526; neuropathy, hereditary sensory, type 1F (MONDO:0014286; AD; Moderate).
[ ] ATP11A — HGNC:13552; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Moderate).
[ ] ATP5MK — HGNC:30889; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] B4GAT1 — HGNC:15685; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 (MONDO:0014120; AR; Moderate).
[ ] B9D2 — HGNC:28636; ciliopathy (MONDO:0005308; AR; Moderate).
[ ] BAAT — HGNC:932; bile acid CoA:amino acid N-acyltransferase deficiency (MONDO:0100305; AR; Moderate).
[ ] BACH2 — HGNC:14078; immunodeficiency 60 (MONDO:0032723; AD; Moderate).
[ ] BAG5 — HGNC:941; cardiomyopathy, dilated, 2F (MONDO:0030680; AR; Moderate).
[ ] BICC1 — HGNC:19351; renal dysplasia, cystic, susceptibility to (MONDO:0011037; AD; Moderate).
[ ] BLOC1S1 — HGNC:4200; neurodevelopmental disorder (MONDO:0700092; AR; Moderate).
[ ] BLOC1S3 — HGNC:20914; Hermansky-Pudlak syndrome 8 (MONDO:0013560; AR; Moderate).
[ ] BLVRA — HGNC:1062; hyperbiliverdinemia (MONDO:0013595; AR; Moderate).
[ ] BPNT2 — HGNC:26019; chondrodysplasia with joint dislocations, gPAPP type (MONDO:0013561; AR; Moderate).
[ ] CA8 — HGNC:1382; cerebellar ataxia (MONDO:0000437; AR; Moderate).
[ ] CACNA1B — HGNC:1389; complex neurodevelopmental disorder with motor features (MONDO:0100516; AR; Moderate).
[ ] CACNA1S — HGNC:1397; malignant hyperthermia, susceptibility to, 5 (MONDO:0011163; AD; Moderate).
[ ] CACNA2D2 — HGNC:1400; complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] CADM3 — HGNC:17601; Charcot-Marie-Tooth disease, axonal, type 2FF (MONDO:0030433; AD; Moderate).
[ ] CAPRIN1 — HGNC:6743; neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline (MONDO:0957985; AD; Moderate); neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder (MONDO:0968945; AD; Moderate).
[ ] CARS2 — HGNC:25695; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] CASP2 — HGNC:1503; intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly (MONDO:0957999; AR; Moderate).
[ ] CAT — HGNC:1516; acatalasia (MONDO:0013571; AR; Moderate).
[ ] CCDC22 — HGNC:28909; Ritscher-Schinzel syndrome 2 (MONDO:0010499; XL; Moderate).
[ ] CCDC32 — HGNC:28295; cardiofacioneurodevelopmental syndrome (MONDO:0030873; AR; Moderate).
[ ] CCNQ — HGNC:28434; syndactyly-telecanthus-anogenital and renal malformations syndrome (MONDO:0010408; XL; Moderate).
[ ] CD164 — HGNC:1632; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Moderate).
[ ] CD28 — HGNC:1653; immunodeficiency 123 with HPV-related verrucosis (MONDO:0971177; AR; Moderate).
[ ] CDCA7 — HGNC:14628; immunodeficiency-centromeric instability-facial anomalies syndrome 3 (MONDO:0014828; AR; Moderate).
[ ] CDK5 — HGNC:1774; lissencephaly with cerebellar hypoplasia (MONDO:0019450; AR; Moderate).
[ ] CEL — HGNC:1848; maturity-onset diabetes of the young type 8 (MONDO:0012348; AD; Moderate).
[ ] CERS1 — HGNC:14253; progressive myoclonus epilepsy (MONDO:0020074; AR; Moderate).
[ ] CFAP298 — HGNC:1301; primary ciliary dyskinesia 26 (MONDO:0014211; AR; Moderate).
[ ] CFAP74 — HGNC:29368; ciliary dyskinesia, primary, 49, without situs inversus (MONDO:0859353; AR; Moderate).
[ ] CFB — HGNC:1037; C3 glomerulonephritis (MONDO:0013892; AD; Limited); atypical hemolytic-uremic syndrome with B factor anomaly (MONDO:0013042; AD; Moderate).
[ ] CHUK — HGNC:1974; Bartsocas-Papas syndrome 2 (MONDO:0859154; AR; Moderate).
[ ] CIDEC — HGNC:24229; CIDEC-related familial partial lipodystrophy (MONDO:0014098; AR; Moderate).
[ ] CITED2 — HGNC:1987; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] CLCN6 — HGNC:2024; neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities (MONDO:0030947; AD; Moderate).
[ ] CLDN11 — HGNC:8514; leukodystrophy, hypomyelinating, 22 (MONDO:0025701; AD; Moderate).
[ ] CLDN9 — HGNC:2051; hearing loss, autosomal recessive 116 (MONDO:0033670; AR; Moderate).
[ ] CLRN2 — HGNC:33939; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] COG1 — HGNC:6545; COG1-congenital disorder of glycosylation (MONDO:0012637; AR; Moderate).
[ ] COL11A1 — HGNC:2186; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Moderate).
[ ] COLGALT1 — HGNC:26182; brain small vessel disease 3 (MONDO:0100105; AR; Moderate).
[ ] COQ5 — HGNC:28722; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] COX16 — HGNC:20213; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] COX5A — HGNC:2267; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] COX6A2 — HGNC:2279; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] CRBN — HGNC:30185; intellectual disability (MONDO:0001071; AR; Moderate).
[ ] CRLS1 — HGNC:16148; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] CSGALNACT1 — HGNC:24290; skeletal dysplasia, mild, with joint laxity and advanced bone age (MONDO:0030029; AR; Moderate).
[ ] CTR9 — HGNC:16850; CTR9-related neurodevelopmental disorder (MONDO:1040006; AD; Moderate).
[ ] CUX2 — HGNC:19347; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Moderate).
[ ] CYC1 — HGNC:2579; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] CYP26B1 — HGNC:20581; lethal occipital encephalocele-skeletal dysplasia syndrome (MONDO:0013740; AR; Moderate).
[ ] DAW1 — HGNC:26383; primary ciliary dyskinesia (MONDO:0016575; AR; Limited); visceral heterotaxy (MONDO:0018677; AR; Moderate).
[ ] DCHS1 — HGNC:13681; van Maldergem syndrome (MONDO:0017813; AR; Moderate).
[ ] DCTN1 — HGNC:2711; amyotrophic lateral sclerosis (MONDO:0004976; AD; Moderate).
[ ] DDOST — HGNC:2728; DDOST-congenital disorder of glycosylation (MONDO:0013789; AR; Moderate).
[ ] DDX23 — HGNC:17347; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] DEF6 — HGNC:2760; immunodeficiency 87 and autoimmunity (MONDO:0030457; AR; Moderate).
[ ] DLAT — HGNC:2896; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] DNA2 — HGNC:2939; mitochondrial disease (MONDO:0044970; AD; Moderate).
[ ] DNAH10 — HGNC:2941; primary ciliary dyskinesia (MONDO:0016575; AR; Limited); spermatogenic failure 56 (MONDO:0030430; AR; Moderate).
[ ] DNAJB13 — HGNC:30718; primary ciliary dyskinesia 34 (MONDO:0014909; AR; Moderate).
[ ] DNAJC5 — HGNC:16235; adult neuronal ceroid lipofuscinosis (MONDO:0019260; AD; Moderate).
[ ] DPM2 — HGNC:3006; congenital muscular dystrophy with intellectual disability and severe epilepsy (MONDO:0014023; AR; Moderate).
[ ] DPM3 — HGNC:3007; DPM3-congenital disorder of glycosylation (MONDO:0013049; AR; Moderate).
[ ] DSTYK — HGNC:29043; complex hereditary spastic paraplegia (MONDO:0015150; AR; Moderate).
[ ] EDN3 — HGNC:3178; Waardenburg syndrome type 4B (MONDO:0013201; AD; Limited); Waardenburg syndrome type 4B (MONDO:0013201; AR; Moderate).
[ ] EDNRB — HGNC:3180; Waardenburg syndrome type 4A (MONDO:0010192; AD; Limited); Waardenburg syndrome type 4A (MONDO:0010192; AR; Moderate).
[ ] EED — HGNC:3188; Cohen-Gibson syndrome (MONDO:0060510; AD; Moderate).
[ ] EEF2 — HGNC:3214; spinocerebellar ataxia type 26 (MONDO:0012246; AD; Moderate).
[ ] ELP1 — HGNC:5959; Riley-Day syndrome (MONDO:0009131; AR; Moderate).
[ ] ELP4 — HGNC:1171; ocular dysgenesis caused by defects in PAX6 regulation (MONDO:0700246; AD; Moderate).
[ ] EMC1 — HGNC:28957; complex neurodevelopmental disorder with motor features (MONDO:0100516; AD; Moderate); complex neurodevelopmental disorder with motor features (MONDO:0100516; AR; Moderate).
[ ] EPS8 — HGNC:3420; autosomal recessive nonsyndromic hearing loss 102 (MONDO:0014428; AR; Moderate).
[ ] EPS8L2 — HGNC:21296; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] ETS1 — HGNC:3488; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] EXOC7 — HGNC:23214; complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] EXTL3 — HGNC:3518; immunoskeletal dysplasia with neurodevelopmental abnormalities (MONDO:0044312; AR; Moderate).
[ ] FADD — HGNC:3573; FADD-related immunodeficiency (MONDO:0013408; AR; Moderate).
[ ] FAM111B — HGNC:24200; hereditary sclerosing poikiloderma with tendon and pulmonary involvement (MONDO:0014310; AD; Moderate).
[ ] FAM149B1 — HGNC:29162; Joubert syndrome 36 (MONDO:0032902; AR; Moderate).
[ ] FAR1 — HGNC:26222; fatty acyl-CoA reductase 1 deficiency (MONDO:0014510; AR; Moderate); fatty acyl-CoA reductase 1 upregulation (MONDO:0100230; AD; Moderate).
[ ] FBLN5 — HGNC:3602; demyelinating hereditary motor and sensory neuropathy (MONDO:0018776; AD; Moderate).
[ ] FBXO38 — HGNC:28844; distal hereditary motor neuropathy (MONDO:0018894; AD; Moderate).
[ ] FGF8 — HGNC:3686; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] FLI1 — HGNC:3749; bleeding disorder, platelet-type, 21 (MONDO:0054577; AD; Moderate).
[ ] FLII — HGNC:3750; cardiomyopathy, dilated, 2j (MONDO:0957984; AR; Moderate).
[ ] FOXA2 — HGNC:5022; combined pituitary hormone deficiencies, genetic form (MONDO:0013099; AD; Moderate).
[ ] FTH1 — HGNC:3976; hemochromatosis type 5 (MONDO:0014225; AD; Limited); neurodegeneration with brain iron accumulation 9 (MONDO:0958012; AD; Moderate).
[ ] FXYD2 — HGNC:4026; renal hypomagnesemia 2 (MONDO:0007937; AD; Moderate).
[ ] FYB1 — HGNC:4036; thrombocytopenia 3 (MONDO:0010120; AR; Moderate).
[ ] GABBR2 — HGNC:4507; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] GABRD — HGNC:4084; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate); epilepsy (MONDO:0005027; AD; Limited).
[ ] GAS2L2 — HGNC:24846; ciliary dyskinesia, primary, 41 (MONDO:0032757; AR; Moderate).
[ ] GDI1 — HGNC:4226; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Moderate).
[ ] GFM1 — HGNC:13780; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] GFM2 — HGNC:29682; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] GINS1 — HGNC:28980; combined immunodeficiency due to GINS1 deficiency (MONDO:0044725; AR; Moderate).
[ ] GLIS2 — HGNC:29450; nephronophthisis 7 (MONDO:0012680; AR; Moderate).
[ ] GLUL — HGNC:4341; congenital brain dysgenesis due to glutamine synthetase deficiency (MONDO:0012393; AR; Moderate); genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Moderate).
[ ] GLYCTK — HGNC:24247; D-glyceric aciduria (MONDO:0009070; AR; Moderate).
[ ] GMNN — HGNC:17493; Meier-Gorlin syndrome 6 (MONDO:0014794; AD; Moderate).
[ ] GNAI3 — HGNC:4387; auriculocondylar syndrome (MONDO:0000107; AD; Moderate).
[ ] GNB2 — HGNC:4398; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] GNB4 — HGNC:20731; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Moderate).
[ ] GOT2 — HGNC:4433; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] GPHN — HGNC:15465; sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (MONDO:0014212; AR; Moderate).
[ ] GPKOW — HGNC:30677; holoprosencephaly-hypokinesia-congenital contractures syndrome (MONDO:0010610; XL; Moderate).
[ ] GRIA1 — HGNC:4571; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate); complex neurodevelopmental disorder (MONDO:0100038; AR; Limited).
[ ] GRIA4 — HGNC:4574; neurodevelopmental disorder with or without seizures and gait abnormalities (MONDO:0060641; AD; Moderate).
[ ] GRXCR2 — HGNC:33862; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] GSTZ1 — HGNC:4643; maleylacetoacetate isomerase deficiency (MONDO:0060527; AR; Moderate).
[ ] GSX2 — HGNC:24959; diencephalic-mesencephalic junction dysplasia syndrome 2 (MONDO:0020762; AR; Moderate).
[ ] HAND1 — HGNC:4807; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] HAND2 — HGNC:4808; HAND2 related congenital heart defect (MONDO:0800476; AD; Moderate).
[ ] HAVCR2 — HGNC:18437; HAVCR2-related cancer predisposition (MONDO:1060169; AR; Moderate).
[ ] HELLS — HGNC:4861; immunodeficiency-centromeric instability-facial anomalies syndrome 4 (MONDO:0014829; AR; Moderate).
[ ] HGF — HGNC:4893; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] HMGB1 — HGNC:4983; HMGB1-related brachyphalangy, polydactyly and tibial aplasia syndrome (MONDO:0700354; AD; Moderate).
[ ] HMGCR — HGNC:5006; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Moderate).
[ ] HNRNPA2B1 — HGNC:5033; inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (MONDO:0014178; AD; Moderate).
[ ] HOMER2 — HGNC:17513; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate).
[ ] HPDL — HGNC:28242; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] HRG — HGNC:5181; hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency (MONDO:0013143; AD; Moderate).
[ ] HYAL1 — HGNC:5320; mucopolysaccharidosis type 9 (MONDO:0011093; AR; Moderate).
[ ] HYLS1 — HGNC:26558; hydrolethalus syndrome (MONDO:0006037; AR; Moderate).
[ ] ICOSLG — HGNC:17087; combined immunodeficiency (MONDO:0015131; AR; Moderate).
[ ] IDH3B — HGNC:5385; IDH3B-related retinopathy (MONDO:0800393; AR; Moderate).
[ ] IFT43 — HGNC:29669; ciliopathy (MONDO:0005308; AR; Moderate).
[ ] IFT52 — HGNC:15901; short-rib thoracic dysplasia 16 with or without polydactyly (MONDO:0014915; AR; Moderate).
[ ] IFT57 — HGNC:17367; ciliopathy (MONDO:0005308; AR; Moderate).
[ ] IFT81 — HGNC:14313; short-rib thoracic dysplasia 19 with or without polydactyly (MONDO:0033485; AR; Moderate).
[ ] IGLL1 — HGNC:5870; agammaglobulinemia 2, autosomal recessive (MONDO:0013287; AR; Moderate).
[ ] IKZF2 — HGNC:13177; HELIOS deficiency (MONDO:0800139; SD; Moderate).
[ ] IKZF3 — HGNC:13178; immunodeficiency 84 (MONDO:0030333; AD; Moderate).
[ ] IKZF5 — HGNC:14283; thrombocytopenia 7 (MONDO:0030867; AD; Moderate).
[ ] IL10 — HGNC:5962; IL10-related early-onset inflammatory bowel disease (MONDO:0016542; AR; Moderate).
[ ] IL2RB — HGNC:6009; immunodeficiency 63 with lymphoproliferation and autoimmunity (MONDO:0032782; AR; Moderate).
[ ] IRF9 — HGNC:6131; immunodeficiency 65, susceptibility to viral infections (MONDO:0032848; AR; Moderate).
[ ] IRX5 — HGNC:14361; craniofacial dysplasia - osteopenia syndrome (MONDO:0012634; AR; Moderate).
[ ] ITM2B — HGNC:6174; ABri amyloidosis (MONDO:0008306; AD; Moderate).
[ ] JAG2 — HGNC:6189; autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152; AR; Moderate).
[ ] KCND2 — HGNC:6238; KCND2-related neurodevelopmental disorder with or without seizures (MONDO:1040003; AD; Moderate).
[ ] KCNJ2 — HGNC:6263; long QT syndrome (MONDO:0002442; AD; Limited); short QT syndrome (MONDO:0000453; AD; Moderate).
[ ] KCNK4 — HGNC:6279; facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome (MONDO:0032714; AD; Moderate).
[ ] KDM5B — HGNC:18039; intellectual disability (MONDO:0001071; AR; Moderate).
[ ] KIF5C — HGNC:6325; complex cortical dysplasia with other brain malformations 2 (MONDO:0014116; AD; Moderate).
[ ] KLF13 — HGNC:13672; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] KLHL20 — HGNC:25056; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] KLHL24 — HGNC:25947; hypertrophic cardiomyopathy (MONDO:0005045; AR; Moderate).
[ ] KLHL41 — HGNC:16905; nemaline myopathy 9 (MONDO:0014326; AR; Moderate).
[ ] LAMB1 — HGNC:6486; cobblestone lissencephaly without muscular or ocular involvement (MONDO:0014077; AR; Moderate).
[ ] LBR — HGNC:6518; Greenberg dysplasia (MONDO:0008974; AR; Moderate); regressive spondylometaphyseal dysplasia (MONDO:0018663; AR; Moderate).
[ ] LIAS — HGNC:16429; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] LIPT1 — HGNC:29569; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] LRP12 — HGNC:31708; oculopharyngodistal myopathy 1 (MONDO:0020793; AD; Moderate).
[ ] LRRC56 — HGNC:25430; ciliary dyskinesia, primary, 39 (MONDO:0032637; AR; Moderate).
[ ] MACF1 — HGNC:13664; lissencephaly spectrum disorder with complex brainstem malformation (MONDO:0100472; AD; Moderate).
[ ] MAN2C1 — HGNC:6827; congenital disorder of deglycosylation 2 (MONDO:0030770; AR; Moderate).
[ ] MAP3K14 — HGNC:6853; NIK deficiency (MONDO:0018642; AR; Moderate).
[ ] MBD4 — HGNC:6919; tumor predisposition syndrome 2 (MONDO:0859267; AR; Moderate); uveal melanoma (MONDO:0006486; AD; Moderate).
[ ] MCM10 — HGNC:18043; immunodeficiency 80 with or without congenital cardiomyopathy (MONDO:0030266; AR; Moderate).
[ ] MCM4 — HGNC:6947; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (MONDO:0012383; AR; Moderate).
[ ] MDM4 — HGNC:6974; bone marrow failure syndrome 6 (MONDO:0030015; AD; Moderate).
[ ] MECR — HGNC:19691; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] MED23 — HGNC:2372; syndromic intellectual disability (MONDO:0000508; AR; Moderate).
[ ] MEGF8 — HGNC:3233; MEGF8-related Carpenter syndrome (MONDO:0013998; AR; Moderate).
[ ] MESP1 — HGNC:29658; congenital heart disease (MONDO:0005453; AD; Moderate).
[ ] MFAP5 — HGNC:29673; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Moderate).
[ ] MFF — HGNC:24858; Leigh syndrome (MONDO:0009723; AR; Moderate); encephalopathy due to mitochondrial and peroxisomal fission defect (MONDO:0054865; AR; Moderate).
[ ] MGAT2 — HGNC:7045; MGAT2-congenital disorder of glycosylation (MONDO:0008908; AR; Moderate).
[ ] MIPEP — HGNC:7104; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] MRAS — HGNC:7227; Noonan syndrome (MONDO:0018997; AD; Moderate).
[ ] MRPL3 — HGNC:10379; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] MRPL39 — HGNC:14027; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] MRPS2 — HGNC:14495; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] MRPS34 — HGNC:16618; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] MTAP — HGNC:7413; diaphyseal medullary stenosis-bone malignancy syndrome (MONDO:0007205; AD; Moderate).
[ ] MYH14 — HGNC:23212; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate).
[ ] MYLK3 — HGNC:29826; dilated cardiomyopathy (MONDO:0005021; AD; Moderate).
[ ] MYZAP — HGNC:43444; cardiomyopathy, dilated, 2K (MONDO:0971175; AR; Moderate).
[ ] NAA20 — HGNC:15908; syndromic intellectual disability (MONDO:0000508; AR; Moderate).
[ ] NADK2 — HGNC:26404; progressive encephalopathy with leukodystrophy due to DECR deficiency (MONDO:0014464; AR; Moderate).
[ ] NARS1 — HGNC:7643; neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities (MONDO:0100348; AR; Moderate); neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (MONDO:0030837; AD; Moderate).
[ ] NCKAP1L — HGNC:4862; immunodeficiency 72 with autoinflammation (MONDO:0033551; AR; Moderate).
[ ] NDUFA1 — HGNC:7683; Leigh syndrome (MONDO:0009723; XL; Moderate); mitochondrial disease (MONDO:0044970; XL; Moderate).
[ ] NDUFA10 — HGNC:7684; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFA13 — HGNC:17194; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFA6 — HGNC:7690; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFA8 — HGNC:7692; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFA9 — HGNC:7693; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFAF1 — HGNC:18828; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFAF8 — HGNC:33551; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFB10 — HGNC:7696; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFB8 — HGNC:7703; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFC2 — HGNC:7706; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NDUFS3 — HGNC:7710; Leigh syndrome (MONDO:0009723; AR; Moderate); mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] NECAP1 — HGNC:24539; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Moderate).
[ ] NEUROD1 — HGNC:7762; monogenic diabetes (MONDO:0015967; AD; Moderate); monogenic diabetes (MONDO:0015967; AR; Moderate).
[ ] NLGN3 — HGNC:14289; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Moderate).
[ ] NME5 — HGNC:7853; ciliary dyskinesia, primary, 48, without situs inversus (MONDO:0031054; AR; Moderate).
[ ] NSDHL — HGNC:13398; CK syndrome (MONDO:0010441; XL; Moderate).
[ ] NSMCE2 — HGNC:26513; Seckel syndrome 10 (MONDO:0014991; AR; Moderate).
[ ] NSRP1 — HGNC:25305; neurodevelopmental disorder with spasticity, seizures, and brain abnormalities (MONDO:0859275; AR; Moderate).
[ ] NUP133 — HGNC:18016; nephrotic syndrome, type 18 (MONDO:0032581; AR; Moderate).
[ ] NUP160 — HGNC:18017; nephrotic syndrome, type 19 (MONDO:0032582; AR; Moderate).
[ ] OGT — HGNC:8127; intellectual disability, X-linked 106 (MONDO:0030907; XL; Moderate).
[ ] OPA3 — HGNC:8142; optic atrophy 3 (MONDO:0008133; AD; Moderate).
[ ] ORC4 — HGNC:8490; Meier-Gorlin syndrome 2 (MONDO:0013428; AR; Moderate).
[ ] OSBPL2 — HGNC:15761; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate).
[ ] OTUD5 — HGNC:25402; multiple congenital anomalies-neurodevelopmental syndrome, X-linked (MONDO:0025351; XL; Moderate).
[ ] P2RX2 — HGNC:15459; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate).
[ ] PAN2 — HGNC:20074; syndromic complex neurodevelopmental disorder (MONDO:0800439; AR; Moderate).
[ ] PARS2 — HGNC:30563; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] PAX7 — HGNC:8621; congenital myopathy with myasthenic-like onset (MONDO:0018528; AR; Moderate).
[ ] PDE6D — HGNC:8788; ciliopathy (MONDO:0005308; AR; Moderate).
[ ] PDHB — HGNC:8808; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] PDSS1 — HGNC:17759; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] PDSS2 — HGNC:23041; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] PIGB — HGNC:8959; developmental and epileptic encephalopathy, 80 (MONDO:0032822; AR; Moderate).
[ ] PIGP — HGNC:3046; developmental and epileptic encephalopathy, 55 (MONDO:0033364; AR; Moderate).
[ ] PIGV — HGNC:26031; hyperphosphatasia with intellectual disability syndrome 1 (MONDO:0009398; AR; Moderate).
[ ] PIK3CG — HGNC:8978; immunodeficiency 97 with autoinflammation (MONDO:0030717; AR; Moderate).
[ ] PISD — HGNC:8999; Liberfarb syndrome (MONDO:0030045; AR; Moderate).
[ ] PLA2G4A — HGNC:9035; cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (MONDO:0018794; AR; Moderate).
[ ] PLAU — HGNC:9052; Quebec platelet disorder (MONDO:0011136; AD; Moderate).
[ ] PLCG1 — HGNC:9065; immune dysregulation, autoimmunity, and autoinflammation (MONDO:0957790; AD; Moderate).
[ ] PLD4 — HGNC:23792; systemic lupus erythematosus 18 (MONDO:1060185; AR; Moderate).
[ ] PLEKHM1 — HGNC:29017; autosomal recessive osteopetrosis 6 (MONDO:0012679; AR; Moderate); osteopetrosis, autosomal dominant 3 (MONDO:0020848; AD; Limited).
[ ] PLEKHM2 — HGNC:29131; dilated cardiomyopathy (MONDO:0005021; AR; Moderate).
[ ] PLS1 — HGNC:9090; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Moderate).
[ ] PMP2 — HGNC:9117; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Moderate).
[ ] PNPT1 — HGNC:23166; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] POLA1 — HGNC:9173; X-linked reticulate pigmentary disorder (MONDO:0010523; XL; Moderate).
[ ] POLR1B — HGNC:20454; Treacher Collins syndrome 4 (MONDO:0030067; AD; Moderate).
[ ] PPM1K — HGNC:25415; maple syrup urine disease, mild variant (MONDO:0014057; AR; Moderate).
[ ] PRIM1 — HGNC:9369; primordial dwarfism-immunodeficiency-lipodystrophy syndrome (MONDO:0859276; AR; Moderate).
[ ] PRPF4 — HGNC:17349; inherited retinal dystrophy (MONDO:0019118; AD; Moderate).
[ ] PSPH — HGNC:9577; neurometabolic disorder due to serine deficiency (MONDO:0018162; AR; Moderate).
[ ] RAB11A — HGNC:9760; complex neurodevelopmental disorder with motor features (MONDO:0100516; AD; Moderate).
[ ] RAB18 — HGNC:14244; Warburg micro syndrome (MONDO:0016649; AR; Moderate).
[ ] RANBP2 — HGNC:9848; Leigh syndrome (MONDO:0009723; AD; Limited); familial acute necrotizing encephalopathy (MONDO:0011953; AD; Moderate).
[ ] RAP1B — HGNC:9857; thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (MONDO:0958000; AD; Moderate).
[ ] REL — HGNC:9954; immunodeficiency 92 (MONDO:0030498; AR; Moderate).
[ ] RFT1 — HGNC:30220; RFT1-congenital disorder of glycosylation (MONDO:0012783; AR; Moderate).
[ ] RGS9 — HGNC:10004; bradyopsia (MONDO:0012033; AR; Moderate).
[ ] RHOG — HGNC:672; hemophagocytic lymphohistiocytosis due to RhoG deficiency (MONDO:0800147; AR; Moderate).
[ ] RHOH — HGNC:686; epidermodysplasia verruciformis, susceptibility to, 4 (MONDO:0032666; AR; Moderate).
[ ] RNF31 — HGNC:16031; immunodeficiency 115 with autoinflammation (MONDO:0957981; AR; Moderate).
[ ] ROBO4 — HGNC:17985; aortic valve disease 3 (MONDO:0032783; AD; Moderate).
[ ] RPL3L — HGNC:10351; cardiomyopathy, dilated, 2D (MONDO:0030300; AR; Moderate).
[ ] RUSC2 — HGNC:23625; intellectual disability, autosomal recessive 61 (MONDO:0030915; AR; Moderate).
[ ] SARS2 — HGNC:17697; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] SBF1 — HGNC:10542; Charcot-Marie-Tooth disease type 4B3 (MONDO:0014117; AR; Moderate).
[ ] SEC61A1 — HGNC:18276; SEC61A1 deficiency (MONDO:0100337; AD; Moderate).
[ ] SELENBP1 — HGNC:10719; extraoral halitosis due to methanethiol oxidase deficiency (MONDO:0029144; AR; Moderate).
[ ] SEPTIN9 — HGNC:7323; neuralgic amyotrophy (MONDO:0017362; AD; Moderate).
[ ] SERPINB6 — HGNC:8950; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] SFTPA1 — HGNC:10798; interstitial lung disease 1 (MONDO:0030608; AD; Moderate).
[ ] SLC25A12 — HGNC:10982; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] SLC25A3 — HGNC:10989; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] SLC35A1 — HGNC:11021; SLC35A1-congenital disorder of glycosylation (MONDO:0011342; AR; Moderate).
[ ] SLC39A7 — HGNC:4927; agammaglobulinemia (MONDO:0015977; AR; Moderate).
[ ] SLC4A3 — HGNC:11029; short QT syndrome (MONDO:0000453; AD; Moderate).
[ ] SLC52A1 — HGNC:30225; maternal riboflavin deficiency (MONDO:0014013; AD; Moderate).
[ ] SLC5A7 — HGNC:14025; neuronopathy, distal hereditary motor, type 7A (MONDO:0008024; AD; Moderate).
[ ] SLC6A17 — HGNC:31399; progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (MONDO:0014559; AR; Moderate).
[ ] SLC7A5 — HGNC:11063; complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] SLC9A1 — HGNC:11071; Lichtenstein-Knorr syndrome (MONDO:0014572; AR; Moderate).
[ ] SLFN14 — HGNC:32689; platelet-type bleeding disorder 20 (MONDO:0014830; AD; Moderate).
[ ] SMARCA5 — HGNC:11101; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] SOX3 — HGNC:11199; SOX3-related X-linked pituitary hormone deficiency with or without intellectual developmental disorder (MONDO:0800474; XL; Moderate).
[ ] SQSTM1 — HGNC:11280; frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (MONDO:0014640; AD; Moderate).
[ ] SRC — HGNC:11283; thrombocytopenia 6 (MONDO:0014837; AD; Moderate).
[ ] ST3GAL3 — HGNC:10866; complex neurodevelopmental disorder (MONDO:0100038; AR; Moderate).
[ ] STEEP1 — HGNC:26239; intellectual disability, X-linked 107 (MONDO:0049222; XL; Moderate).
[ ] STK36 — HGNC:17209; ciliary dyskinesia, primary, 46 (MONDO:0030332; AR; Moderate).
[ ] STN1 — HGNC:26200; cerebroretinal microangiopathy with calcifications and cysts 2 (MONDO:0015026; AR; Moderate).
[ ] SUCLG1 — HGNC:11449; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] SUGCT — HGNC:16001; glutaric acidemia type 3 (MONDO:0009283; AR; Moderate).
[ ] SYNE4 — HGNC:26703; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Moderate).
[ ] SYP — HGNC:11506; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Moderate).
[ ] SYT2 — HGNC:11510; congenital myasthenic syndrome 7 (MONDO:0014468; AD; Moderate).
[ ] TAMM41 — HGNC:25187; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] TAPBP — HGNC:11566; MHC class I deficiency (MONDO:0011476; AR; Moderate).
[ ] TBC1D8B — HGNC:24715; nephrotic syndrome, type 20 (MONDO:0026726; XL; Moderate).
[ ] TBCE — HGNC:11582; encephalopathy, progressive, with amyotrophy and optic atrophy (MONDO:0014968; AR; Moderate).
[ ] TBXA2R — HGNC:11608; qualitative platelet defect (MONDO:0001197; AD; Moderate).
[ ] TET2 — HGNC:25941; pulmonary arterial hypertension (MONDO:0015924; AD; Moderate).
[ ] TF — HGNC:11740; atransferrinemia (MONDO:0008846; AR; Moderate).
[ ] THBD — HGNC:11784; thrombomodulin-related bleeding disorder (MONDO:0013775; AD; Moderate); thrombomodulin-related bleeding disorder (MONDO:0013775; AR; Limited).
[ ] TLR7 — HGNC:15631; systemic lupus erythematosus 17 (MONDO:0859083; XL; Moderate).
[ ] TMEM138 — HGNC:26944; ciliopathy (MONDO:0005308; AR; Moderate).
[ ] TMEM163 — HGNC:25380; leukodystrophy, hypomyelinating, 25 (MONDO:0859378; AD; Moderate).
[ ] TMEM165 — HGNC:30760; TMEM165-congenital disorder of glycosylation (MONDO:0013870; AR; Moderate).
[ ] TNNI3K — HGNC:19661; dilated cardiomyopathy (MONDO:0005021; AD; Moderate).
[ ] TOP2B — HGNC:11990; B-cell immunodeficiency, distal limb anomalies, and urogenital malformations (MONDO:0012243; AD; Moderate).
[ ] TPK1 — HGNC:17358; Leigh syndrome (MONDO:0009723; AR; Moderate).
[ ] TPM4 — HGNC:12013; TPM4-related platelet disorder (MONDO:0100487; AD; Moderate).
[ ] TRAF3 — HGNC:12033; TRAF3 haploinsufficiency (MONDO:0100513; AD; Moderate).
[ ] TRIM63 — HGNC:16007; hypertrophic cardiomyopathy (MONDO:0005045; AR; Moderate).
[ ] TRMT10C — HGNC:26022; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] TRPM7 — HGNC:17994; macrothrombocytopenia, isolated (MONDO:0031447; AD; Moderate).
[ ] TSPAN7 — HGNC:11854; non-syndromic X-linked intellectual disability (MONDO:0019181; XL; Moderate).
[ ] TUBA4A — HGNC:12407; amyotrophic lateral sclerosis type 22 (MONDO:0014531; AD; Moderate); autosomal dominant macrothrombocytopenia (MONDO:0015372; AD; Limited).
[ ] TUFM — HGNC:12420; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] UNC93B1 — HGNC:13481; systemic lupus erythematosus (MONDO:0007915; SD; Moderate).
[ ] UNG — HGNC:12572; hyper-IgM syndrome type 5 (MONDO:0011971; AR; Moderate).
[ ] UQCC2 — HGNC:21237; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] UQCRC2 — HGNC:12586; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] UQCRFS1 — HGNC:12587; mitochondrial disease (MONDO:0044970; AR; Moderate).
[ ] USP27X — HGNC:13486; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Moderate).
[ ] VKORC1 — HGNC:23663; vitamin K-dependent clotting factors, combined deficiency of, type 2 (MONDO:0011837; AR; Moderate).
[ ] VMA22 — HGNC:28178 (ClinGen source symbol: CCDC115); CCDC115-CDG (MONDO:0014789; AR; Moderate).
[ ] WASHC5 — HGNC:28984; Ritscher-Schinzel syndrome 1 (MONDO:0009073; AR; Limited); hereditary spastic paraplegia 8 (MONDO:0011339; AD; Moderate).
[ ] WNT5A — HGNC:12784; autosomal dominant Robinow syndrome (MONDO:0008389; AD; Moderate).
[ ] WRAP53 — HGNC:25522; dyskeratosis congenita, autosomal recessive 3 (MONDO:0013520; AR; Moderate).
[ ] YWHAZ — HGNC:12855; complex neurodevelopmental disorder (MONDO:0100038; AD; Moderate).
[ ] ZCCHC8 — HGNC:25265; pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 (MONDO:0032865; AD; Moderate).
[ ] ZNF423 — HGNC:16762; ciliopathy (MONDO:0005308; AR; Moderate).

Nuclear Mendelian protein-coding genes: Limited (360 genes)

[ ] ABCC1 — HGNC:51; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Limited).
[ ] ABCD3 — HGNC:67; congenital bile acid synthesis defect 5 (MONDO:0014564; AR; Limited).
[ ] ADAMTS19 — HGNC:17111; congenital heart disease (MONDO:0005453; AR; Limited).
[ ] ADAMTS9 — HGNC:13202; ciliopathy (MONDO:0005308; AR; Limited).
[ ] ADCY1 — HGNC:232; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] AFG2B — HGNC:28762; hearing loss, autosomal recessive 119 (MONDO:0030480; AR; Limited).
[ ] AK7 — HGNC:20091; spermatogenic failure (MONDO:0004983; AR; Limited).
[ ] AKT1 — HGNC:391; Cowden syndrome 6 (MONDO:0014048; AD; Limited).
[ ] ALDH6A1 — HGNC:7179; methylmalonate semialdehyde dehydrogenase deficiency (MONDO:0013579; AR; Limited).
[ ] ALG10 — HGNC:23162; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] ALG10B — HGNC:31088; long QT syndrome (MONDO:0002442; AD; Limited).
[ ] ALG14 — HGNC:28287; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] ANG — HGNC:483; amyotrophic lateral sclerosis type 9 (MONDO:0012753; AD; Limited).
[ ] ANGPT1 — HGNC:484; primary congenital glaucoma (MONDO:0000365; AD; Limited).
[ ] ANKRD1 — HGNC:15819; congenital heart disease (MONDO:0005453; AD; Limited); dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] APOA4 — HGNC:602; autosomal dominant medullary cystic kidney disease with or without hyperuricemia (MONDO:0008264; AD; Limited).
[ ] APOLD1 — HGNC:25268; inherited blood coagulation disorder (MONDO:0021181; AD; Limited).
[ ] AQP1 — HGNC:633; pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] ARHGEF1 — HGNC:681; immunodeficiency 62 (MONDO:0032763; AR; Limited).
[ ] ARHGEF10 — HGNC:14103; autosomal dominant slowed nerve conduction velocity (MONDO:0011998; AD; Limited).
[ ] ARHGEF28 — HGNC:30322; amyotrophic lateral sclerosis (MONDO:0004976; SD; Limited).
[ ] ARPP21 — HGNC:16968; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] ASB10 — HGNC:17185; obsolete glaucoma 1, open angle, F (MONDO:0011311; AD; Limited).
[ ] ASPNAT — HGNC:26742 (ClinGen source symbol: NAT8L); N-acetylaspartate deficiency (MONDO:0013549; AR; Limited).
[ ] ATG5 — HGNC:589; spinocerebellar ataxia, autosomal recessive 25 (MONDO:0033115; AR; Limited).
[ ] ATP5F1D — HGNC:837; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] ATP5F1E — HGNC:838; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] ATP5MC3 — HGNC:843; mitochondrial disease (MONDO:0044970; AD; Limited).
[ ] ATP6V1A — HGNC:851; autosomal recessive cutis laxa type 2D (MONDO:0027451; AR; Limited).
[ ] ATP6V1E1 — HGNC:857; autosomal recessive cutis laxa type 2C (MONDO:0027462; AR; Limited).
[ ] ATPAF2 — HGNC:18802; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] ATRIP — HGNC:33499; hereditary breast carcinoma (MONDO:0016419; AD; Limited).
[ ] AVIL — HGNC:14188; nephrotic syndrome, type 21 (MONDO:0032826; AR; Limited).
[ ] B2M — HGNC:914; amyloidosis, hereditary systemic 6 (MONDO:0971010; AD; Limited); hypoproteinemia, hypercatabolic (MONDO:0009434; AR; Limited).
[ ] BANF1 — HGNC:17397; Nestor-Guillermo progeria syndrome (MONDO:0013523; AR; Limited).
[ ] BAZ2B — HGNC:963; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] BCL9 — HGNC:1008; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] BCORL1 — HGNC:25657; Shukla-Vernon syndrome (MONDO:0026727; XL; Limited).
[ ] BDP1 — HGNC:13652; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] BMP10 — HGNC:20869; congenital heart disease (MONDO:0005453; AD; Limited); pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] BMP6 — HGNC:1073; iron overload, susceptibility to (MONDO:0859316; AD; Limited).
[ ] BRWD1 — HGNC:12760; agammaglobulinemia (MONDO:0015977; AD; Limited).
[ ] BUB1 — HGNC:1148; colorectal cancer (MONDO:0005575; AD; Limited).
[ ] C1GALT1C1 — HGNC:24338; hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature (MONDO:0957495; XL; Limited).
[ ] CACNG2 — HGNC:1406; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] CAMK2G — HGNC:1463; intellectual developmental disorder 59 (MONDO:0032795; AD; Limited).
[ ] CAMLG — HGNC:1471; congenital disorder of glycosylation, type IIz (MONDO:0859357; AR; Limited).
[ ] CASP10 — HGNC:1500; autoimmune lymphoproliferative syndrome type 2A (MONDO:0011383; AD; Limited).
[ ] CASZ1 — HGNC:26002; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] CAV2 — HGNC:1528; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] CCDC50 — HGNC:18111; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] CCDC78 — HGNC:14153; centronuclear myopathy (MONDO:0018947; AD; Limited).
[ ] CCNF — HGNC:1591; frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (MONDO:0030875; AD; Limited).
[ ] CD81 — HGNC:1701; immunodeficiency, common variable, 6 (MONDO:0013286; AR; Limited).
[ ] CD8A — HGNC:1706; susceptibility to respiratory infections associated with CD8alpha chain mutation (MONDO:0012161; AR; Limited).
[ ] CD96 — HGNC:16892; C syndrome (MONDO:0008893; AD; Limited).
[ ] CDC6 — HGNC:1744; Meier-Gorlin syndrome 5 (MONDO:0013432; AR; Limited).
[ ] CDK16 — HGNC:8749; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Limited).
[ ] CENPE — HGNC:1856; autosomal recessive primary microcephaly (MONDO:0016660; AR; Limited).
[ ] CFAP46 — HGNC:25247; primary ciliary dyskinesia (MONDO:0016575; AR; Limited).
[ ] CFAP47 — HGNC:26708; spermatogenic failure, X-linked, 3 (MONDO:0025354; XL; Limited).
[ ] CFAP57 — HGNC:26485; primary ciliary dyskinesia (MONDO:0016575; AR; Limited).
[ ] CHD1 — HGNC:1915; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] CHD1L — HGNC:1916; congenital anomaly of kidney and urinary tract (MONDO:0019719; AD; Limited).
[ ] CHRD — HGNC:1949; congenital heart disease (MONDO:0005453; AR; Limited).
[ ] CHRNA2 — HGNC:1956; familial sleep-related hypermotor epilepsy (MONDO:0000030; AD; Limited).
[ ] CLPB — HGNC:30664; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] CNOT9 — HGNC:10445; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] COA3 — HGNC:24990; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COA5 — HGNC:33848; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COG2 — HGNC:6546; congenital disorder of glycosylation, type IIq (MONDO:0054559; AR; Limited).
[ ] COG3 — HGNC:18619; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] COL4A6 — HGNC:2208; hearing loss, X-linked 6 (MONDO:0010484; XL; Limited).
[ ] COL9A2 — HGNC:2218; Stickler syndrome (MONDO:0019354; AR; Limited).
[ ] COPG1 — HGNC:2236; non-severe combined immunodeficiency due to COPG1 deficiency (MONDO:0800136; AR; Limited).
[ ] COX11 — HGNC:2261; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COX14 — HGNC:28216; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COX4I1 — HGNC:2265; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COX4I2 — HGNC:16232; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] COX7B — HGNC:2291; mitochondrial disease (MONDO:0044970; XL; Limited).
[ ] COX8A — HGNC:2294; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] CPT1C — HGNC:18540; hereditary spastic paraplegia (MONDO:0019064; AD; Limited).
[ ] CRACR2A — HGNC:28657; combined immunodeficiency (MONDO:0015131; AR; Limited).
[ ] CRELD1 — HGNC:14630; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] CRIPTO — HGNC:11701; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] CRYM — HGNC:2418; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] CST3 — HGNC:2475; ACys amyloidosis (MONDO:0007098; AD; Limited); leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy (MONDO:0979226; AD; Limited).
[ ] CTF1 — HGNC:2499; dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] CTNNA3 — HGNC:2511; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited).
[ ] CTNNBL1 — HGNC:15879; common variable immunodeficiency (MONDO:0015517; AR; Limited).
[ ] CYCS — HGNC:19986; thrombocytopenia 4 (MONDO:0012775; AD; Limited).
[ ] CYS1 — HGNC:18525; polycystic kidney disease (MONDO:0020642; AR; Limited).
[ ] DAAM2 — HGNC:18143; idiopathic multidrug-resistant nephrotic syndrome (MONDO:0035459; AR; Limited).
[ ] DDX59 — HGNC:25360; ciliopathy (MONDO:0005308; AR; Limited).
[ ] DENND5B — HGNC:28338; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] DIABLO — HGNC:21528; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] DIAPH3 — HGNC:15480; auditory neuropathy (MONDO:0021944; AD; Limited).
[ ] DISP1 — HGNC:19711; holoprosencephaly (MONDO:0016296; AD; Limited).
[ ] DLGAP2 — HGNC:2906; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] DMGDH — HGNC:24475; dimethylglycine dehydrogenase deficiency (MONDO:0011610; AR; Limited).
[ ] DMXL2 — HGNC:2938; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] DNAH7 — HGNC:18661; primary ciliary dyskinesia (MONDO:0016575; AR; Limited).
[ ] DNAJC7 — HGNC:12392; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] DNASE1 — HGNC:2956; systemic lupus erythematosus (MONDO:0007915; AD; Limited).
[ ] DPH5 — HGNC:24270; neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties (MONDO:0859295; AR; Limited).
[ ] DTNA — HGNC:3057; dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] DYNLT2B — HGNC:28482; short-rib thoracic dysplasia 17 with or without polydactyly (MONDO:0054565; AR; Limited).
[ ] EDN1 — HGNC:3176; auriculocondylar syndrome (MONDO:0000107; AR; Limited).
[ ] EFNB2 — HGNC:3227; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] EGF — HGNC:3229; renal hypomagnesemia 4 (MONDO:0012717; AR; Limited).
[ ] EHHADH — HGNC:3247; Fanconi renotubular syndrome 3 (MONDO:0014275; AD; Limited).
[ ] ELMOD3 — HGNC:26158; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited); nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] EMX2 — HGNC:3341; schizencephaly (MONDO:0010011; AD; Limited).
[ ] EPB41L1 — HGNC:3378; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] EPHB2 — HGNC:3393; bleeding disorder, platelet-type, 22 (MONDO:0032765; AR; Limited).
[ ] EPHX1 — HGNC:3401; hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited).
[ ] ERBB4 — HGNC:3432; amyotrophic lateral sclerosis type 19 (MONDO:0014223; AD; Limited).
[ ] ERBIN — HGNC:15842; autosomal dominant combined immunodeficiency due to ERBIN deficiency (MONDO:0958120; AD; Limited).
[ ] ERMARD — HGNC:21056; periventricular nodular heterotopia (MONDO:0020341; AD; Limited).
[ ] ESRP1 — HGNC:25966; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] EXOC2 — HGNC:24968; complex neurodevelopmental disorder (MONDO:0100038; AR; Limited).
[ ] EXOSC2 — HGNC:17097; retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome (MONDO:0044634; AR; Limited).
[ ] FAM20B — HGNC:23017; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] FBLN2 — HGNC:3601; congenital heart disease (MONDO:0005453; AD; Limited); pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] FBXO32 — HGNC:16731; dilated cardiomyopathy (MONDO:0005021; AR; Limited).
[ ] FCSK — HGNC:29500; congenital disorder of glycosylation with defective fucosylation 2 (MONDO:0020777; AR; Limited).
[ ] FEM1C — HGNC:16933; neurodevelopmental disorder (MONDO:0700092; AD; Limited).
[ ] FLT3 — HGNC:3765; leukemia, acute myeloid, susceptibility to (MONDO:0100173; AD; Limited).
[ ] FOXH1 — HGNC:3814; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] FOXI1 — HGNC:3815; hearing loss disorder (MONDO:0005365; AR; Limited).
[ ] FOXI3 — HGNC:35123; T-cell immunodeficiency (MONDO:0003780; AD; Limited).
[ ] GABRB1 — HGNC:4081; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Limited).
[ ] GALNT12 — HGNC:19877; colorectal cancer, susceptibility to, 1 (MONDO:0012132; AD; Limited).
[ ] GAS1 — HGNC:4165; holoprosencephaly (MONDO:0016296; AD; Limited).
[ ] GATAD1 — HGNC:29941; dilated cardiomyopathy 2B (MONDO:0013848; AR; Limited).
[ ] GET3 — HGNC:752; cardiomyopathy, dilated, 2H (MONDO:0859358; AR; Limited).
[ ] GFUS — HGNC:12390; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] GLE1 — HGNC:4315; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] GLT8D1 — HGNC:24870; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] GNMT — HGNC:4415; glycine N-methyltransferase deficiency (MONDO:0011698; AR; Limited).
[ ] GRAP — HGNC:4562; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] GREM2 — HGNC:17655; tooth agenesis, selective, 9 (MONDO:0014999; AD; Limited).
[ ] GUF1 — HGNC:25799; developmental and epileptic encephalopathy (MONDO:0100620; AR; Limited).
[ ] HAL — HGNC:4806; histidinemia (MONDO:0009345; AR; Limited).
[ ] HARS2 — HGNC:4817; Perrault syndrome 2 (MONDO:0013972; AR; Limited).
[ ] HAS2 — HGNC:4819; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] HEPHL1 — HGNC:30477; pili torti-developmental delay-neurological abnormalities syndrome (MONDO:0009871; AR; Limited).
[ ] HEY2 — HGNC:4881; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] HIBADH — HGNC:4907; 3-hydroxyisobutyric aciduria (MONDO:0009371; AR; Limited).
[ ] HOXA11 — HGNC:5101; radioulnar synostosis with amegakaryocytic thrombocytopenia 1 (MONDO:0024558; AD; Limited).
[ ] HYOU1 — HGNC:16931; granulocytopenia with immunoglobulin abnormality (MONDO:0009305; AR; Limited).
[ ] IL21 — HGNC:6005; IL21-related infantile inflammatory bowel disease (MONDO:0014338; AR; Limited).
[ ] IL6R — HGNC:6019; hyper-IgE recurrent infection syndrome 5, autosomal recessive (MONDO:0030069; AR; Limited).
[ ] ILK — HGNC:6040; dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] IQSEC1 — HGNC:29112; complex neurodevelopmental disorder (MONDO:0100038; AR; Limited).
[ ] IRF2BP2 — HGNC:21729; immunodeficiency, common variable, 14 (MONDO:0054691; AD; Limited).
[ ] IRX4 — HGNC:6129; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] ITPKB — HGNC:6179; ITPKB deficiency (MONDO:0800140; AR; Limited).
[ ] KARS1 — HGNC:6215; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] KCNE1 — HGNC:6240; long QT syndrome 5 (MONDO:0013372; AD; Limited).
[ ] KDM5A — HGNC:9886; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] KIF1B — HGNC:16636; Charcot-Marie-Tooth disease type 2A1 (MONDO:0007308; AD; Limited).
[ ] KIF20A — HGNC:9787; congenital heart disease (MONDO:0005453; AR; Limited).
[ ] KIF4A — HGNC:13339; complex neurodevelopmental disorder with or without congenital anomalies (MONDO:0100465; XL; Limited).
[ ] KITLG — HGNC:6343; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] KLF10 — HGNC:11810; hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] KLF2 — HGNC:6347; pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] KLK1 — HGNC:6357; pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] KPNA7 — HGNC:21839; epilepsy (MONDO:0005027; AR; Limited).
[ ] LAMA4 — HGNC:6484; dilated cardiomyopathy 1JJ (MONDO:0014095; AD; Limited).
[ ] LAS1L — HGNC:25726; X-linked syndromic intellectual disability (MONDO:0020119; XL; Limited).
[ ] LIPT2 — HGNC:37216; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] LONP1 — HGNC:9479; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] LRRC8A — HGNC:19027; agammaglobulinemia (MONDO:0015977; AD; Limited).
[ ] MAN2A2 — HGNC:6825; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] MAN2B2 — HGNC:29623; MAN2B2 deficiency (MONDO:0800141; AR; Limited).
[ ] MARS1 — HGNC:6898; Charcot-Marie-Tooth disease (MONDO:0015626; AD; Limited).
[ ] MAST2 — HGNC:19035; thrombotic disease (MONDO:0000831; AD; Limited).
[ ] MASTL — HGNC:19042; thrombocytopenia (MONDO:0002049; AD; Limited).
[ ] MAT2A — HGNC:6904; familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Limited).
[ ] MCAT — HGNC:29622; optic atrophy 15 (MONDO:0957935; AR; Limited).
[ ] MCM2 — HGNC:6944; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] MEIS1 — HGNC:7000; thrombocytopenia (MONDO:0002049; AD; Limited).
[ ] MIB1 — HGNC:21086; dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] MICU2 — HGNC:31830; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MIEF2 — HGNC:17920; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MLH3 — HGNC:7128; colorectal cancer, hereditary nonpolyposis, type 7 (MONDO:0013725; AD; Limited); intestinal polyposis syndrome (MONDO:0015185; AR; Limited).
[ ] MOCS3 — HGNC:15765; sulfite oxidase deficiency due to molybdenum cofactor deficiency type B2 (MONDO:0980701; AR; Limited).
[ ] MRPL12 — HGNC:10378; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPL24 — HGNC:14037; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPL38 — HGNC:14033; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS14 — HGNC:14049; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS16 — HGNC:14048; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS23 — HGNC:14509; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS25 — HGNC:14511; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS28 — HGNC:14513; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MRPS7 — HGNC:14499; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] MS4A1 — HGNC:7315; immunodeficiency, common variable, 5 (MONDO:0013285; AR; Limited).
[ ] MYL1 — HGNC:7582; congenital myopathy (MONDO:0019952; AR; Limited).
[ ] MYO9A — HGNC:7608; arthrogryposis syndrome (MONDO:0015225; AR; Limited).
[ ] NCAPG2 — HGNC:21904; Khan-Khan-Katsanis syndrome (MONDO:0032764; AR; Limited).
[ ] NDUFA11 — HGNC:20371; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] NDUFB7 — HGNC:7702; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] NDUFB9 — HGNC:7704; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] NEBL — HGNC:16932; dilated cardiomyopathy (MONDO:0005021; AD; Limited).
[ ] NFAT5 — HGNC:7774; immunodeficiency disease (MONDO:0021094; AD; Limited).
[ ] NFATC1 — HGNC:7775; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] NFE2 — HGNC:7780; thrombocytopenia (MONDO:0002049; AR; Limited).
[ ] NFE2L2 — HGNC:7782; immunodeficiency, developmental delay, and hypohomocysteinemia (MONDO:0060591; AD; Limited).
[ ] NFKBIZ — HGNC:29805; hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited).
[ ] NHP2 — HGNC:14377; dyskeratosis congenita, autosomal recessive 2 (MONDO:0013519; AR; Limited).
[ ] NKX2-6 — HGNC:32940; congenital heart disease (MONDO:0005453; AR; Limited).
[ ] NOP10 — HGNC:14378; pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 (MONDO:0957294; AD; Limited).
[ ] NPM1 — HGNC:7910; bone marrow failure syndrome (MONDO:0000159; AD; Limited).
[ ] NPTX1 — HGNC:7952; autosomal dominant cerebellar ataxia (MONDO:0020380; AD; Limited).
[ ] NRP1 — HGNC:8004; congenital heart disease (MONDO:0005453; AR; Limited).
[ ] NRXN2 — HGNC:8009; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] NSMCE3 — HGNC:7677; lung disease, immunodeficiency, and chromosome breakage syndrome; (MONDO:0014984; AR; Limited).
[ ] NTNG1 — HGNC:23319; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] NUDCD3 — HGNC:22208; severe combined immunodeficiency (MONDO:0015974; AR; Limited).
[ ] NUP205 — HGNC:18658; nephrotic syndrome, type 13 (MONDO:0014818; AR; Limited).
[ ] NUP50 — HGNC:8065; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] OBSCN — HGNC:15719; dilated cardiomyopathy (MONDO:0005021; AD; Limited); hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] OTUD7A — HGNC:20718; complex neurodevelopmental disorder (MONDO:0100038; AR; Limited).
[ ] OXA1L — HGNC:8526; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] PCDH15 — HGNC:14674; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] PCNA — HGNC:8729; hereditary ataxia (MONDO:0100309; AR; Limited).
[ ] PDCD1 — HGNC:8760; autoimmune disease (MONDO:0007179; AR; Limited).
[ ] PDE1C — HGNC:8776; autosomal dominant nonsyndromic hearing loss (MONDO:0019587; AD; Limited).
[ ] PDGFD — HGNC:30620; pulmonary arterial hypertension (MONDO:0015924; AD; Limited).
[ ] PDLIM3 — HGNC:20767; hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] PDYN — HGNC:8820; spinocerebellar ataxia type 23 (MONDO:0012449; AD; Limited).
[ ] PET117 — HGNC:40045; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] PHYKPL — HGNC:28249; phosphohydroxylysinuria (MONDO:0014008; AR; Limited).
[ ] PIGC — HGNC:8960; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] PIGF — HGNC:8962; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] PIGH — HGNC:8964; glycosylphosphatidylinositol biosynthesis defect 17 (MONDO:0060724; AR; Limited).
[ ] PIGM — HGNC:18858; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] PIGU — HGNC:15791; glycosylphosphatidylinositol biosynthesis defect 21 (MONDO:0032824; AR; Limited).
[ ] PIGW — HGNC:23213; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] PIGY — HGNC:28213; hyperphosphatasia with intellectual disability syndrome 6 (MONDO:0014780; AR; Limited).
[ ] POLD2 — HGNC:9176; non-severe combined immunodeficiency due to polymerase delta deficiency (MONDO:0800145; AR; Limited).
[ ] POLD3 — HGNC:20932; immunodeficiency 122 (MONDO:0971151; AR; Limited).
[ ] POLE2 — HGNC:9178; combined immunodeficiency due to POLE2 deficiency (MONDO:0800128; AR; Limited).
[ ] POLG — HGNC:9179; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] POLR3K — HGNC:14121; leukodystrophy, hypomyelinating, 21 (MONDO:0030263; AR; Limited).
[ ] POU2AF1 — HGNC:9211; agammaglobulinemia (MONDO:0015977; AR; Limited).
[ ] PPIP5K2 — HGNC:29035; hearing loss, autosomal recessive (MONDO:0019588; AR; Limited).
[ ] PRICKLE1 — HGNC:17019; progressive myoclonus epilepsy (MONDO:0020074; AR; Limited).
[ ] PRICKLE2 — HGNC:20340; complex neurodevelopmental disorder (MONDO:0100038; AD; Limited).
[ ] PRIMA1 — HGNC:18319; epilepsy (MONDO:0005027; AR; Limited).
[ ] PRKD1 — HGNC:9407; congenital heart disease (MONDO:0005453; AD; Limited); congenital heart disease (MONDO:0005453; AR; Limited).
[ ] PRODH2 — HGNC:17325; hydroxyprolinemia (MONDO:0009374; AR; Limited).
[ ] PRPH — HGNC:9461; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] PRSS12 — HGNC:9477; non-syndromic intellectual disability (MONDO:0000509; AR; Limited).
[ ] PSD3 — HGNC:19093; antecubital pterygium syndrome (MONDO:0008339; AD; Limited).
[ ] PSEN2 — HGNC:9509; dilated cardiomyopathy 1V (MONDO:0013373; AD; Limited).
[ ] PSMB10 — HGNC:9538; immunodeficiency 121 with autoinflammation (MONDO:0971001; AD; Limited).
[ ] PTCD3 — HGNC:24717; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] PTCH2 — HGNC:9586; nevoid basal cell carcinoma syndrome (MONDO:0007187; AD; Limited).
[ ] PTGS1 — HGNC:9604; platelet-type bleeding disorder 12 (MONDO:0011588; SD; Limited).
[ ] PTPRJ — HGNC:9673; hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited); thrombocytopenia 10 (MONDO:0957578; AR; Limited).
[ ] RASA2 — HGNC:9872; Noonan syndrome (MONDO:0018997; AD; Limited).
[ ] RNASEH1 — HGNC:18466; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] RNF40 — HGNC:16867; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] ROBO1 — HGNC:10249; congenital heart disease (MONDO:0005453; AD; Limited); congenital heart disease (MONDO:0005453; AR; Limited).
[ ] ROCK2 — HGNC:10252; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] ROR1 — HGNC:10256; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] RP9 — HGNC:10288; retinitis pigmentosa 9 (MONDO:0008378; AD; Limited).
[ ] RPA1 — HGNC:10289; dyskeratosis congenita and related telomere biology disorder (MONDO:0800467; AD; Limited).
[ ] RPS20 — HGNC:10405; Lynch syndrome (MONDO:0005835; AD; Limited).
[ ] RPS6KB1 — HGNC:10436; hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] RRAS — HGNC:10447; Noonan syndrome (MONDO:0018997; AD; Limited).
[ ] RYR3 — HGNC:10485; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Limited).
[ ] SARDH — HGNC:10536; sarcosinemia (MONDO:0010008; AR; Limited).
[ ] SARS1 — HGNC:10537; neurodevelopmental disorder with microcephaly, ataxia, and seizures (MONDO:0060577; AR; Limited).
[ ] SAT1 — HGNC:10540; pediatric systemic lupus erythematosus (MONDO:0019725; XL; Limited).
[ ] SEC61B — HGNC:16993; SEC61B-related polycystic liver disease (MONDO:0550003; AD; Limited).
[ ] SEMA3E — HGNC:10727; CHARGE syndrome (MONDO:0008965; AD; Limited).
[ ] SH3KBP1 — HGNC:13867; immunodeficiency 61 (MONDO:0010296; XL; Limited).
[ ] SHMT2 — HGNC:10852; neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (MONDO:0030866; AR; Limited).
[ ] SIK1 — HGNC:11142; genetic developmental and epileptic encephalopathy (MONDO:0100062; AD; Limited).
[ ] SIRT1 — HGNC:14929; monogenic diabetes (MONDO:0015967; AD; Limited).
[ ] SLC12A5 — HGNC:13818; genetic developmental and epileptic encephalopathy (MONDO:0100062; AR; Limited).
[ ] SLC19A1 — HGNC:10937; immunodeficiency 114, folate-responsive (MONDO:0957955; AR; Limited).
[ ] SLC1A1 — HGNC:10939; dicarboxylic aminoaciduria (MONDO:0009110; AR; Limited).
[ ] SLC22A4 — HGNC:10968; hearing loss, autosomal recessive (MONDO:0019588; AR; Limited).
[ ] SLC25A10 — HGNC:10980; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] SLC25A19 — HGNC:14409; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] SLC26A5 — HGNC:9359; nonsyndromic genetic hearing loss (MONDO:0019497; AR; Limited).
[ ] SLC36A2 — HGNC:18762; iminoglycinuria (MONDO:0009448; AR; Limited).
[ ] SLC39A8 — HGNC:20862; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] SLC41A1 — HGNC:19429; kidney disorder (MONDO:0005240; AR; Limited).
[ ] SLC44A4 — HGNC:13941; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] SLC6A6 — HGNC:11052; hypotaurinemic retinal degeneration and cardiomyopathy (MONDO:0007777; AR; Limited).
[ ] SLITRK2 — HGNC:13449; X-linked complex neurodevelopmental disorder (MONDO:0100148; XL; Limited).
[ ] SMAD1 — HGNC:6767; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] SMAD7 — HGNC:6773; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] SMARCA1 — HGNC:11097; X-linked intellectual disability (MONDO:0100284; XL; Limited).
[ ] SNAI1 — HGNC:11128; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] SNAI2 — HGNC:11094; Waardenburg syndrome (MONDO:0018094; AR; Limited).
[ ] SOBP — HGNC:29256; syndromic intellectual disability (MONDO:0000508; AR; Limited).
[ ] SOX7 — HGNC:18196; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] SPATA13 — HGNC:23222; primary angle-closure glaucoma (MONDO:0001868; AD; Limited).
[ ] SPNS2 — HGNC:26992; hearing loss, autosomal recessive 115 (MONDO:0032762; AR; Limited).
[ ] SQOR — HGNC:20390; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] SRF — HGNC:11291; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] SS18L1 — HGNC:15592; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] STT3B — HGNC:30611; congenital disorder of glycosylation (MONDO:0015286; AR; Limited).
[ ] SYNPO — HGNC:30672; focal segmental glomerulosclerosis (MONDO:0100313; AD; Limited).
[ ] TAF15 — HGNC:11547; amyotrophic lateral sclerosis (MONDO:0004976; AD; Limited).
[ ] TBX2 — HGNC:11597; vertebral anomalies and variable endocrine and T-cell dysfunction (MONDO:0032607; AD; Limited).
[ ] TDO2 — HGNC:11708; familial hypertryptophanemia (MONDO:0010907; AR; Limited).
[ ] TECR — HGNC:4551; intellectual disability (MONDO:0001071; AR; Limited).
[ ] TGFB1 — HGNC:11766; inflammatory bowel disease, immunodeficiency, and encephalopathy (MONDO:0032601; AR; Limited).
[ ] TGFB3 — HGNC:11769; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited); familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625; AD; Limited).
[ ] THAP11 — HGNC:23194; methylmalonic aciduria and homocystinuria (MONDO:0016826; AR; Limited).
[ ] THG1L — HGNC:26053; spinocerebellar ataxia, autosomal recessive 28 (MONDO:0032923; AR; Limited).
[ ] TIA1 — HGNC:11802; amyotrophic lateral sclerosis 26 with or without frontotemporal dementia (MONDO:0030885; AD; Limited).
[ ] TIMM22 — HGNC:17317; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] TJP1 — HGNC:11827; arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587; AD; Limited).
[ ] TJP2 — HGNC:11828; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] TLL1 — HGNC:11843; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] TMEM132E — HGNC:26991; hearing loss, autosomal recessive (MONDO:0019588; AR; Limited).
[ ] TMEM65 — HGNC:25203; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] TMEM98 — HGNC:24529; nanophthalmos 4 (MONDO:0014426; AD; Limited).
[ ] TMOD1 — HGNC:11871; dilated cardiomyopathy (MONDO:0005021; AR; Limited).
[ ] TMPO — HGNC:11875; hypertrophic cardiomyopathy (MONDO:0005045; AD; Limited).
[ ] TNC — HGNC:5318; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Limited).
[ ] TNFRSF13C — HGNC:17755; immunodeficiency, common variable, 4 (MONDO:0013284; AR; Limited).
[ ] TNFRSF4 — HGNC:11918; combined immunodeficiency due to OX40 deficiency (MONDO:0014268; AR; Limited).
[ ] TNFSF12 — HGNC:11927; common variable immunodeficiency (MONDO:0015517; AD; Limited).
[ ] TNFSF13 — HGNC:11928; common variable immunodeficiency (MONDO:0015517; AR; Limited).
[ ] TNIK — HGNC:30765; non-syndromic intellectual disability (MONDO:0000509; AR; Limited).
[ ] TNNI1 — HGNC:11945; childhood-onset nemaline myopathy (MONDO:0015738; AR; Limited); nemaline myopathy (MONDO:0018958; AD; Limited).
[ ] TNNT3 — HGNC:11950; nemaline myopathy (MONDO:0018958; AR; Limited).
[ ] TRIM44 — HGNC:19016; aniridia 3 (MONDO:0014938; AD; Limited).
[ ] TSHZ1 — HGNC:10669; aural atresia, congenital (MONDO:0011921; AD; Limited).
[ ] UQCC3 — HGNC:34399; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] UQCRB — HGNC:12582; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] UQCRH — HGNC:12590; mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] UQCRQ — HGNC:29594; Leigh syndrome (MONDO:0009723; AR; Limited); mitochondrial disease (MONDO:0044970; AR; Limited).
[ ] UROC1 — HGNC:26444; urocanic aciduria (MONDO:0010167; AR; Limited).
[ ] USP34 — HGNC:20066; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] USP44 — HGNC:20064; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] VEGFA — HGNC:12680; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] VMA21 — HGNC:22082; congenital disorder of glycosylation (MONDO:0015286; XL; Limited).
[ ] VPS13D — HGNC:23595; Leigh syndrome (MONDO:0009723; AR; Limited).
[ ] VPS37A — HGNC:24928; complex hereditary spastic paraplegia (MONDO:0015150; AR; Limited).
[ ] VPS8 — HGNC:29122; arthrogryposis multiplex congenita (MONDO:0015168; AR; Limited).
[ ] WARS1 — HGNC:12729; distal hereditary motor neuropathy (MONDO:0018894; AD; Limited).
[ ] WBP2 — HGNC:12738; hearing loss, autosomal recessive (MONDO:0019588; AR; Limited).
[ ] WDR5 — HGNC:12757; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] WNT3 — HGNC:12782; tetraamelia syndrome 1 (MONDO:0060764; AR; Limited).
[ ] XRCC2 — HGNC:12829; Fanconi anemia complementation group U (MONDO:0014987; AR; Limited).
[ ] XRCC4 — HGNC:12831; hereditary nonpolyposis colon cancer (MONDO:0018630; AD; Limited).
[ ] YME1L1 — HGNC:12843; mitochondrial disease (MONDO:0044970; AR; Limited); optic atrophy 11 (MONDO:0015011; AR; Limited).
[ ] ZC3H14 — HGNC:20509; intellectual disability (MONDO:0001071; AR; Limited).
[ ] ZFPM1 — HGNC:19762; congenital heart disease (MONDO:0005453; AD; Limited).
[ ] ZNF143 — HGNC:12928; methylmalonic aciduria and homocystinuria (MONDO:0016826; AR; Limited).

Additional mitochondrial protein-coding disease genes (13 genes)

[ ] MT-ATP6 — HGNC:7414; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ATP8 — HGNC:7415; mitochondrial disease (MONDO:0044970; MT; Limited).
[ ] MT-CO1 — HGNC:7419; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-CO2 — HGNC:7421; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-CO3 — HGNC:7422; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-CYB — HGNC:7427; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ND1 — HGNC:7455; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ND2 — HGNC:7456; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Moderate).
[ ] MT-ND3 — HGNC:7458; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ND4 — HGNC:7459; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ND4L — HGNC:7460; mitochondrial disease (MONDO:0044970; MT; Limited).
[ ] MT-ND5 — HGNC:7461; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-ND6 — HGNC:7462; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).

RNA genes: dedicated RNA-function review workflow (35 genes)

[ ] MIR140 — HGNC:31527 [RNA, micro]; spondyloepiphyseal dysplasia, nishimura type (MONDO:0032835; AD; Limited).
[ ] MIR96 — HGNC:31648 [RNA, micro]; nonsyndromic genetic hearing loss (MONDO:0019497; AD; Moderate).
[ ] MT-RNR1 — HGNC:7470 [RNA, ribosomal]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-RNR2 — HGNC:7471 [RNA, ribosomal]; mitochondrial disease (MONDO:0044970; MT; Limited).
[ ] MT-TA — HGNC:7475 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TC — HGNC:7477 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Limited).
[ ] MT-TD — HGNC:7478 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Moderate).
[ ] MT-TE — HGNC:7479 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TF — HGNC:7481 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TG — HGNC:7486 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Moderate).
[ ] MT-TH — HGNC:7487 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TI — HGNC:7488 [RNA, transfer]; Leigh syndrome (MONDO:0009723; MT; Limited); hypertrophic cardiomyopathy (MONDO:0005045; MT; Moderate); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TK — HGNC:7489 [RNA, transfer]; Leigh syndrome (MONDO:0009723; MT; Definitive); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TL1 — HGNC:7490 [RNA, transfer]; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TL2 — HGNC:7491 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TM — HGNC:7492 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TN — HGNC:7493 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TP — HGNC:7494 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TQ — HGNC:7495 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Limited).
[ ] MT-TR — HGNC:7496 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Moderate).
[ ] MT-TS1 — HGNC:7497 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TS2 — HGNC:7498 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TT — HGNC:7499 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Moderate).
[ ] MT-TV — HGNC:7500 [RNA, transfer]; Leigh syndrome (MONDO:0009723; MT; Moderate); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TW — HGNC:7501 [RNA, transfer]; Leigh syndrome (MONDO:0009723; MT; Limited); mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] MT-TY — HGNC:7502 [RNA, transfer]; mitochondrial disease (MONDO:0044970; MT; Definitive).
[ ] RMRP — HGNC:10031 [RNA, misc]; cartilage-hair hypoplasia (MONDO:0009595; AR; Definitive).
[ ] RNU12 — HGNC:19380 [RNA, small nuclear]; RNU12-related minor spliceopathy disorder (MONDO:1060223; AR; Moderate).
[ ] RNU2-2 — HGNC:10152 [RNA, small nuclear]; developmental and epileptic encephalopathy 119 (MONDO:1060177; AD; Strong).
[ ] RNU4-2 — HGNC:10193 [RNA, small nuclear]; neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (MONDO:0971172; AD; Strong).
[ ] RNU4ATAC — HGNC:34016 [RNA, small nuclear]; RNU4ATAC spectrum disorder (MONDO:0100558; AR; Definitive).
[ ] RNU5B-1 — HGNC:10212 [RNA, small nuclear]; RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity (MONDO:1060179; AD; Strong).
[ ] RNU7-1 — HGNC:34033 [RNA, small nuclear]; RNU7-1-related type 1 interferonopathy (MONDO:0700263; AR; Moderate).
[ ] SNORA31 — HGNC:32621 [RNA, small nucleolar]; encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 (MONDO:0030313; AD; Limited).
[ ] TERC — HGNC:11727 [RNA, long non-coding]; dyskeratosis congenita, autosomal dominant 1 (MONDO:0007485; AD; Definitive).

Other HGNC locus types: identifier and product triage (4 genes)

[ ] IGHM — HGNC:5541 [immunoglobulin gene]; autosomal recessive agammaglobulinemia 1 (MONDO:0020729; AR; Definitive).
[ ] IGKC — HGNC:5716 [immunoglobulin gene]; recurrent infections associated with rare immunoglobulin isotypes deficiency (MONDO:0013576; AR; Limited).
[ ] LRTOMT — HGNC:25033 [readthrough]; autosomal recessive nonsyndromic hearing loss 63 (MONDO:0012670; AR; Definitive).
[ ] TRAC — HGNC:12029 [T cell receptor gene]; TCR-alpha-beta-positive T-cell deficiency (MONDO:0014160; AR; Moderate).

Follow-up: undetermined inheritance only (3 genes)

[ ] GJA1 — HGNC:4274; congenital heart disease (MONDO:0005453; UD — inheritance undetermined; Limited).
[ ] LGALSL — HGNC:25012; amyotrophic lateral sclerosis (MONDO:0004976; UD — inheritance undetermined; Limited).
[ ] TLR5 — HGNC:11851; systemic lupus erythematosus, susceptibility to, 1 (MONDO:0011138; UD — inheritance undetermined; Limited).

Notes

2026-09-25

Initial source-based seed only. No gene-level curation sign-offs were made.

The review campaign started with A4GALT, AARS1, and AARS2. Each gene receives a
separate PR and remains unchecked until its review and PR follow-up are complete.

Slides

Slides (Marp source: CLINGEN_MENDELIAN-slides.md) — AI generated

Warnings (2095)