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
PRKACB
(HGNC:9381)
Ellis-van Creveld syndrome
(MONDO_0009162)
 Limited
PRKAG2
(HGNC:9386)
lethal congenital glycogen storage disease of heart
(MONDO_0009867)
 Moderate
PROS1
(HGNC:9456)
hereditary thrombophilia due to congenital protein S deficiency
(MONDO_0019144)
 Definitive
PROP1
(HGNC:9455)
combined pituitary hormone deficiencies, genetic form
(MONDO_0013099)
 Strong
PLPBP
(HGNC:9457)
pyridoxine-dependent epilepsy
(MONDO_0009945)
 Strong
PROM1
(HGNC:9454)
Stargardt disease
(MONDO_0019353)
 Moderate
PROM1
(HGNC:9454)
inherited retinal dystrophy
(MONDO_0019118)
 Definitive
PROM1
(HGNC:9454)
cone-rod dystrophy
(MONDO_0015993)
 Strong
PROM1
(HGNC:9454)
retinitis pigmentosa
(MONDO_0019200)
 Strong
PRODH
(HGNC:9453)
hyperprolinemia type 1
(MONDO_0009400)
 Strong
PRNP
(HGNC:9449)
fatal familial insomnia
(MONDO_0010808)
 Definitive
PRNP
(HGNC:9449)
Gerstmann-Straussler-Scheinker syndrome
(MONDO_0007656)
 Strong
PROC
(HGNC:9451)
hereditary thrombophilia due to congenital protein C deficiency
(MONDO_0019145)
 Definitive
PRNP
(HGNC:9449)
inherited Creutzfeldt-Jakob disease
(MONDO_0007403)
 Definitive
DNAJC3
(HGNC:9439)
type 2 diabetes mellitus
(MONDO_0005148)
 Limited
BAG3
(HGNC:939)
distal hereditary motor neuropathy
(MONDO_0018894)
 Limited
PRKRA
(HGNC:9438)
dystonia 16
(MONDO_0012789)
 Moderate
ZMYND8
(HGNC:9397)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
PRKCD
(HGNC:9399)
common variable immunodeficiency
(MONDO_0015517)
 Limited
PPP2R5D
(HGNC:9312)
Hogue-Janssens syndrome 1
(MONDO_0014602)
 Definitive
Showing 281–300 of 6699