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
SLC26A5
(HGNC:9359)
autosomal recessive nonsyndromic hearing loss 61
(MONDO_0013471)
 Moderate
PRF1
(HGNC:9360)
hereditary hemophagocytic lymphohistiocytosis
(MONDO_0015541)
 Definitive
PRDX1
(HGNC:9352)
methylmalonic aciduria and homocystinuria type cblC
(MONDO_0010184)
 Moderate
PPP2R5D
(HGNC:9312)
syndromic intellectual disability
(MONDO_0000508)
 Strong
PRDM5
(HGNC:9349)
Axenfeld-Rieger syndrome
(MONDO_0019187)
 Limited
PRDX3
(HGNC:9354)
spinocerebellar ataxia, autosomal recessive 32
(MONDO_0859245)
 Moderate
PPP3CC
(HGNC:9316)
schizophrenia
(MONDO_0005090)
 Limited
PRDM5
(HGNC:9349)
brittle cornea syndrome 2
(MONDO_0013605)
 Moderate
PPP3CA
(HGNC:9314)
developmental and epileptic encephalopathy 91
(MONDO_0020630)
 Strong
PPP2R2B
(HGNC:9305)
spinocerebellar ataxia type 12
(MONDO_0011439)
 Strong
PPP1CB
(HGNC:9282)
Noonan syndrome-like disorder with loose anagen hair 2
(MONDO_0054588)
 Moderate
B4GALT7
(HGNC:930)
Ehlers-Danlos syndrome, spondylodysplastic type, 1
(MONDO_0020682)
 Strong
PDP1
(HGNC:9279)
pyruvate dehydrogenase phosphatase deficiency
(MONDO_0012120)
 Moderate
PPM1D
(HGNC:9277)
hereditary breast carcinoma
(MONDO_0016419)
 Limited
PPP1CB
(HGNC:9282)
Noonan syndrome-like disorder with loose anagen hair
(MONDO_0011899)
 Strong
PPM1D
(HGNC:9277)
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
(MONDO_0044318)
 Strong
PPARG
(HGNC:9236)
PPARG-related familial partial lipodystrophy
(MONDO_0011448)
 Strong
B4GALT1
(HGNC:924)
B4GALT1-congenital disorder of glycosylation
(MONDO_0011772)
 Moderate
POU4F3
(HGNC:9220)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
 Strong
POU4F3
(HGNC:9220)
autosomal dominant nonsyndromic hearing loss 15
(MONDO_0011226)
 Definitive
Showing 301–320 of 6699