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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
SEPTIN9
(HGNC:7323)
neuralgic amyotrophy
(MONDO_0017362)
 Strong
MS4A1
(HGNC:7315)
common variable immunodeficiency
(MONDO_0015517)
 Limited
MRE11
(HGNC:7230)
breast cancer
(MONDO_0007254)
 Limited
MRE11
(HGNC:7230)
prostate cancer
(MONDO_0008315)
 Limited
MPZ
(HGNC:7225)
Charcot-Marie-Tooth disease
(MONDO_0015626)
 Definitive
MRAS
(HGNC:7227)
Noonan syndrome
(MONDO_0018997)
 Strong
MPZ
(HGNC:7225)
Charcot-Marie-Tooth disease type 3
(MONDO_0007790)
 Strong
MPZ
(HGNC:7225)
Charcot-Marie-Tooth disease type 2J
(MONDO_0011903)
 Strong
MPZ
(HGNC:7225)
Charcot-Marie-Tooth disease type 1B
(MONDO_0007307)
 Definitive
MPV17
(HGNC:7224)
mitochondrial disease
(MONDO_0044970)
 Strong
MPV17
(HGNC:7224)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
(MONDO_0009747)
 Definitive
MPV17
(HGNC:7224)
Charcot-Marie-Tooth disease, axonal, type 2EE
(MONDO_0032728)
 Moderate
MPST
(HGNC:7223)
encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
(MONDO_0009585)
 Limited
MPL
(HGNC:7217)
familial thrombocytosis
(MONDO_0019111)
 Strong
ARSL
(HGNC:719)
X-linked chondrodysplasia punctata 1
(MONDO_0010555)
 Strong
MOCS2
(HGNC:7193)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
(MONDO_0009644)
 Strong
MOCS1
(HGNC:7190)
sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
(MONDO_0009643)
 Strong
MN1
(HGNC:7180)
CEBALID syndrome
(MONDO_0032908)
 Strong
ALDH6A1
(HGNC:7179)
methylmalonate semialdehyde dehydrogenase deficiency
(MONDO_0013579)
 Moderate
MMP9
(HGNC:7176)
metaphyseal anadysplasia 2
(MONDO_0013113)
 Moderate
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