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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
PRKCD
(HGNC:9399)
common variable immunodeficiency
(MONDO_0015517)
 Limited
PPP2R5D
(HGNC:9312)
Hogue-Janssens syndrome 1
(MONDO_0014602)
 Definitive
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
Showing 281–300 of 6681