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Gene–disease association summaries
Gene–Disease Browser
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| Gene |
Disease |
Score |
Actions |
|
GTF2IRD2
(HGNC:30775)
|
Williams syndrome
(MONDO_0008678)
|
Limited
|
|
|
TTC21A
(HGNC:30761)
|
male infertility
(MONDO_0005372)
|
Moderate
|
|
|
TARS2
(HGNC:30740)
|
combined oxidative phosphorylation defect type 21
(MONDO_0014398)
|
Strong
|
|
|
CAND2
(HGNC:30689)
|
atrial fibrillation
(MONDO_0004981)
|
Limited
|
|
|
SV2C
(HGNC:30670)
|
Parkinson disease
(MONDO_0005180)
|
Limited
|
|
|
SEPSECS
(HGNC:30605)
|
pontocerebellar hypoplasia type 2D
(MONDO_0013438)
|
Strong
|
|
|
SUSD2
(HGNC:30667)
|
myocardial ischemia
(MONDO_0024644)
|
Limited
|
|
|
TADA1
(HGNC:30631)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
EPYC
(HGNC:3053)
|
posterior amorphous corneal dystrophy
(MONDO_0013027)
|
Limited
|
|
|
DNAJC19
(HGNC:30528)
|
3-methylglutaconic aciduria type 5
(MONDO_0012435)
|
Definitive
|
|
|
DSG1
(HGNC:3048)
|
striate palmoplantar keratoderma
(MONDO_0018865)
|
Strong
|
|
|
DNAAF3
(HGNC:30492)
|
primary ciliary dyskinesia
(MONDO_0016575)
|
Strong
|
|
|
DSG1
(HGNC:3048)
|
severe dermatitis-multiple allergies-metabolic wasting syndrome
(MONDO_0014218)
|
Strong
|
|
|
IFT172
(HGNC:30391)
|
Bardet-Biedl syndrome
(MONDO_0015229)
|
Moderate
|
|
|
PCMTD1
(HGNC:30483)
|
primary angle-closure glaucoma
(MONDO_0001868)
|
Disputed
|
|
|
TMEM147
(HGNC:30414)
|
intellectual disability
(MONDO_0001071)
|
Limited
|
|
|
RCCD1
(HGNC:30457)
|
breast cancer
(MONDO_0007254)
|
Moderate
|
|
|
UBR3
(HGNC:30467)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Limited
|
|
|
RCCD1
(HGNC:30457)
|
exocrine pancreatic carcinoma
(MONDO_0005192)
|
Limited
|
|
|
KLHL40
(HGNC:30372)
|
nemaline myopathy
(MONDO_0018958)
|
Strong
|
|