Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
Back to Open Access Summaries

Gene–Disease Browser

Need updated, customized, evidence‑backed summaries? Get it from the leaders in AI‑powered, evidence‑backed summaries provider.
Contact us
Gene Disease Score Actions
IGF1
(HGNC:5464)
growth delay due to insulin-like growth factor type 1 deficiency
(MONDO_0012110)
 Moderate
IFRD1
(HGNC:5456)
spinocerebellar ataxia type 18
(MONDO_0011834)
 Limited
ABCC2
(HGNC:53)
Dubin-Johnson syndrome
(MONDO_0009380)
 Definitive
IFNAR1
(HGNC:5432)
immunodeficiency 106, susceptibility to viral infections
(MONDO_0030970)
 Moderate
IDUA
(HGNC:5391)
Hurler-Scheie syndrome
(MONDO_0011759)
 Definitive
IDUA
(HGNC:5391)
Scheie syndrome
(MONDO_0011760)
 Strong
IDH3G
(HGNC:5386)
retinitis pigmentosa
(MONDO_0019200)
 Limited
IDH3B
(HGNC:5385)
retinitis pigmentosa
(MONDO_0019200)
 Limited
IDH2
(HGNC:5383)
D-2-hydroxyglutaric aciduria
(MONDO_0010924)
 Strong
IDH1
(HGNC:5382)
Maffucci syndrome
(MONDO_0013808)
 Strong
ANXA11
(HGNC:535)
amyotrophic lateral sclerosis
(MONDO_0004976)
 Strong
ID2
(HGNC:5361)
congenital heart disease
(MONDO_0005453)
 Limited
ICOS
(HGNC:5351)
common variable immunodeficiency
(MONDO_0015517)
 Strong
NOD2
(HGNC:5331)
Blau syndrome
(MONDO_0008523)
 Definitive
HSPG2
(HGNC:5273)
Schwartz-Jampel syndrome type 1
(MONDO_0100435)
 Definitive
HSPG2
(HGNC:5273)
Silverman-Handmaker type dyssegmental dysplasia
(MONDO_0009140)
 Moderate
IARS1
(HGNC:5330)
growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
(MONDO_0014911)
 Strong
HSPB1
(HGNC:5246)
distal hereditary motor neuropathy type 2
(MONDO_0015352)
 Strong
HSPA9
(HGNC:5244)
autosomal recessive sideroblastic anemia
(MONDO_0016828)
 Limited
HSF4
(HGNC:5227)
cataract 5 multiple types
(MONDO_0007290)
 Strong
Showing 1261–1280 of 6699