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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
PRKAR1A
(HGNC:9388)
acrodysostosis
(MONDO_0019797)
 Definitive
PRKAR1A
(HGNC:9388)
primary pigmented nodular adrenocortical disease
(MONDO_0015999)
 Definitive
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
Showing 261–280 of 6681