Stats

Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries

Gene–Disease Browser

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Gene Disease Score Actions
AURKA
(HGNC:11393)
breast cancer
(MONDO_0007254)
Limited
STK11
(HGNC:11389)
familial ovarian cancer
(MONDO_0016248)
Limited
STAT1
(HGNC:11362)
immunodeficiency 31B
(MONDO_0013427)
Moderate
STK11
(HGNC:11389)
familial pancreatic carcinoma
(MONDO_0015278)
Limited
ST14
(HGNC:11344)
autosomal recessive congenital ichthyosis 11
(MONDO_0011218)
Strong
STAG2
(HGNC:11355)
Mullegama-Klein-Martinez syndrome
(MONDO_0026722)
Strong
BTK
(HGNC:1133)
isolated growth hormone deficiency type III
(MONDO_0010615)
Refuted
SSR4
(HGNC:11326)
SSR4-congenital disorder of glycosylation
(MONDO_0010490)
Strong
BTK
(HGNC:1133)
Bruton-type agammaglobulinemia
(MONDO_0010421)
Definitive
SSBP1
(HGNC:11317)
Leigh syndrome
(MONDO_0009723)
Limited
SRY
(HGNC:11311)
46,XY partial gonadal dysgenesis
(MONDO_0016674)
Limited
SRY
(HGNC:11311)
46,XX ovotesticular disorder of sex development
(MONDO_0016281)
Limited
SRY
(HGNC:11311)
46,XY complete gonadal dysgenesis
(MONDO_0010765)
Definitive
SRP54
(HGNC:11301)
Shwachman-Diamond syndrome
(MONDO_0009833)
Moderate
SREBF2
(HGNC:11290)
hereditary spastic paraplegia
(MONDO_0019064)
Limited
SREBF1
(HGNC:11289)
Hirschsprung disease
(MONDO_0018309)
Limited
SREBF1
(HGNC:11289)
hereditary mucoepithelial dysplasia
(MONDO_0008017)
Moderate
SRD5A2
(HGNC:11285)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
(MONDO_0009923)
Definitive
SRC
(HGNC:11283)
colorectal cancer
(MONDO_0005575)
Disputed
SQSTM1
(HGNC:11280)
neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
(MONDO_0014940)
Limited
Showing 3981–4000 of 6699