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Gene–disease association summaries
Gene–Disease Browser
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| 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
|
|