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Stats
Total associations
6699
Unique genes
4252
Unique diseases
3300
Gene–disease association summaries
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Gene–Disease Browser
Search gene/disease/HGNC/MONDO or name
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Gene
Disease
Score
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KCNQ1
(HGNC:6294)
Jervell and Lange-Nielsen syndrome
(MONDO_0002441)
Definitive
KCNN4
(HGNC:6293)
dehydrated hereditary stomatocytosis
(MONDO_0017910)
Strong
KCNN3
(HGNC:6292)
Zimmermann-Laband syndrome
(MONDO_0000200)
Strong
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)
Limited
KCNJ5
(HGNC:6266)
long QT syndrome 13
(MONDO_0013279)
Limited
KCNJ8
(HGNC:6269)
hypertrichotic osteochondrodysplasia Cantu type
(MONDO_0009406)
Moderate
KCNJ6
(HGNC:6267)
Keppen-Lubinsky syndrome
(MONDO_0013572)
Moderate
KCNJ5
(HGNC:6266)
long QT syndrome
(MONDO_0002442)
Limited
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)
Moderate
KCNJ2
(HGNC:6263)
short QT syndrome type 3
(MONDO_0012314)
Limited
KCNJ2
(HGNC:6263)
long QT syndrome
(MONDO_0002442)
Limited
KCNJ2
(HGNC:6263)
catecholaminergic polymorphic ventricular tachycardia
(MONDO_0017990)
Disputed
KCNJ2
(HGNC:6263)
Andersen-Tawil syndrome
(MONDO_0008222)
Definitive
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