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Over 2,000 gene–disease validation summaries are now available—no login required!

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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
KCNQ1
(HGNC:6294)
long QT syndrome
(MONDO_0002442)
 Definitive
KCNQ1
(HGNC:6294)
short QT syndrome
(MONDO_0000453)
 Strong
KCNQ1
(HGNC:6294)
Jervell and Lange-Nielsen syndrome
(MONDO_0002441)
 Definitive
KCNN4
(HGNC:6293)
dehydrated hereditary stomatocytosis
(MONDO_0017910)
 Definitive
KCNN3
(HGNC:6292)
Zimmermann-Laband syndrome
(MONDO_0000200)
 Moderate
KCNK9
(HGNC:6283)
Birk-Barel syndrome
(MONDO_0012856)
 Strong
KCNK4
(HGNC:6279)
facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
(MONDO_0032714)
 Strong
KCNMA1
(HGNC:6284)
Liang-Wang syndrome
(MONDO_0032886)
 Strong
KCNK3
(HGNC:6278)
heritable pulmonary arterial hypertension
(MONDO_0017148)
 Moderate
KCNK3
(HGNC:6278)
pulmonary arterial hypertension
(MONDO_0015924)
 Definitive
KCNJ8
(HGNC:6269)
Brugada syndrome
(MONDO_0015263)
 Moderate
KCNJ5
(HGNC:6266)
long QT syndrome 13
(MONDO_0013279)
 Limited
KCNJ8
(HGNC:6269)
hypertrichotic osteochondrodysplasia Cantu type
(MONDO_0009406)
 Limited
KCNJ6
(HGNC:6267)
Keppen-Lubinsky syndrome
(MONDO_0013572)
 Limited
KCNJ5
(HGNC:6266)
long QT syndrome
(MONDO_0002442)
 Disputed
KCNJ5
(HGNC:6266)
familial hyperaldosteronism type III
(MONDO_0013359)
 Strong
KCNJ5
(HGNC:6266)
Andersen-Tawil syndrome
(MONDO_0008222)
 Limited
KCNJ2
(HGNC:6263)
short QT syndrome
(MONDO_0000453)
 Strong
KCNJ2
(HGNC:6263)
short QT syndrome type 3
(MONDO_0012314)
 Moderate
KCNJ2
(HGNC:6263)
long QT syndrome
(MONDO_0002442)
 Limited
Showing 1081–1100 of 6681