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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
SNAI2
(HGNC:11094)
Waardenburg syndrome type 2
(MONDO_0019517)
 Limited
SNAI2
(HGNC:11094)
Waardenburg syndrome
(MONDO_0018094)
 Moderate
SLC9A3
(HGNC:11073)
congenital sodium diarrhea
(MONDO_0015170)
 Strong
SLC9A3
(HGNC:11073)
cystic fibrosis
(MONDO_0009061)
 Disputed
SLC7A3
(HGNC:11061)
autism spectrum disorder
(MONDO_0005258)
 Limited
SLC9A1
(HGNC:11071)
Lichtenstein-Knorr syndrome
(MONDO_0014572)
 Moderate
SLC6A9
(HGNC:11056)
atypical glycine encephalopathy
(MONDO_0015010)
 Moderate
SLC6A3
(HGNC:11049)
parkinsonism-dystonia, infantile
(MONDO_0013150)
 Definitive
SLC6A2
(HGNC:11048)
postural orthostatic tachycardia syndrome
(MONDO_0011479)
 Disputed
SLC6A4
(HGNC:11050)
autism spectrum disorder
(MONDO_0005258)
 Disputed
SLC5A5
(HGNC:11040)
familial thyroid dyshormonogenesis
(MONDO_0010132)
 Strong
SLC5A6
(HGNC:11041)
neurodegeneration, infantile-onset, biotin-responsive
(MONDO_0033546)
 Strong
SLC6A14
(HGNC:11047)
cystic fibrosis
(MONDO_0009061)
 Moderate
SLC5A1
(HGNC:11036)
glucose-galactose malabsorption
(MONDO_0011731)
 Definitive
SLC4A3
(HGNC:11029)
short QT syndrome
(MONDO_0000453)
 Strong
SLC4A1
(HGNC:11027)
hereditary spherocytosis
(MONDO_0019350)
 Definitive
SLC4A1
(HGNC:11027)
cryohydrocytosis
(MONDO_0008494)
 Moderate
SLC35A2
(HGNC:11022)
SLC35A2-congenital disorder of glycosylation
(MONDO_0010478)
 Strong
SLC4A1
(HGNC:11027)
southeast Asian ovalocytosis
(MONDO_0008165)
 Definitive
BRCA2
(HGNC:1101)
Fanconi anemia
(MONDO_0019391)
 Definitive
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