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Over 2,000 gene–disease validation summaries are now available—no login required!

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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
KCNH1
(HGNC:6250)
Temple-Baraitser syndrome
(MONDO_0012735)
 Strong
KCNH1
(HGNC:6250)
Zimmermann-Laband syndrome
(MONDO_0000200)
 Strong
KCNC3
(HGNC:6235)
spinocerebellar ataxia type 13
(MONDO_0011529)
 Definitive
JUNB
(HGNC:6205)
nodular lymphocyte predominant Hodgkin lymphoma
(MONDO_0044778)
 Limited
IRF9
(HGNC:6131)
COVID-19
(MONDO_0100096)
 Limited
ITGB1BP2
(HGNC:6154)
dilated cardiomyopathy
(MONDO_0005021)
 Disputed
ISG20
(HGNC:6130)
presbycusis
(MONDO_0043765)
 Limited
INPP1
(HGNC:6071)
bipolar disorder
(MONDO_0004985)
 Limited
INCENP
(HGNC:6058)
breast cancer
(MONDO_0007254)
 Limited
IL1RAPL2
(HGNC:5997)
Sotos syndrome
(MONDO_0019349)
 Disputed
IL13RA1
(HGNC:5974)
asthma
(MONDO_0004979)
 Disputed
APLP1
(HGNC:597)
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
(MONDO_0009092)
 Disputed
IL13RA1
(HGNC:5974)
systemic sclerosis
(MONDO_0005100)
 Disputed
APEH
(HGNC:586)
Crohn disease
(MONDO_0005011)
 Disputed
CD101
(HGNC:5949)
type 1 diabetes mellitus
(MONDO_0005147)
 Limited
IGLL1
(HGNC:5870)
agammaglobulinemia
(MONDO_0015977)
 Moderate
IGL
(HGNC:5853)
classic Hodgkin lymphoma
(MONDO_0009348)
 Limited
APBB2
(HGNC:582)
Alzheimer disease
(MONDO_0004975)
 Limited
AP3D1
(HGNC:568)
Hermansky-Pudlak syndrome 10
(MONDO_0014885)
 Moderate
AP2A2
(HGNC:562)
Alzheimer disease
(MONDO_0004975)
 Limited
Showing 5361–5380 of 6681