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VarSy

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

Gene–Disease Browser

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Gene Disease Score Actions
KIT
(HGNC:6342)
mastocytosis
(MONDO_0007950)
Definitive
KISS1
(HGNC:6341)
hypogonadotropic hypogonadism
(MONDO_0018555)
Limited
AQP1
(HGNC:633)
pulmonary arterial hypertension
(MONDO_0015924)
Moderate
KIF3B
(HGNC:6320)
ciliopathy
(MONDO_0005308)
Moderate
KIF2A
(HGNC:6318)
complex cortical dysplasia with other brain malformations 3
(MONDO_0014170)
Moderate
KIF1C
(HGNC:6317)
spastic ataxia 2
(MONDO_0012651)
Strong
KERA
(HGNC:6309)
cornea plana
(MONDO_0000733)
Strong
KCNQ4
(HGNC:6298)
autosomal dominant nonsyndromic hearing loss
(MONDO_0019587)
Definitive
KDR
(HGNC:6307)
pulmonary arterial hypertension
(MONDO_0015924)
Definitive
KCNQ4
(HGNC:6298)
hearing loss disorder
(MONDO_0005365)
Definitive
KCNQ3
(HGNC:6297)
seizures, benign familial neonatal, 2
(MONDO_0007366)
Strong
KCNQ3
(HGNC:6297)
benign familial infantile epilepsy
(MONDO_0017615)
Limited
KCNQ2
(HGNC:6296)
benign familial infantile epilepsy
(MONDO_0017615)
Moderate
KCNQ2
(HGNC:6296)
benign neonatal seizures
(MONDO_0016027)
Definitive
KCNQ2
(HGNC:6296)
malignant migrating partial seizures of infancy
(MONDO_0017385)
Limited
KCNQ2
(HGNC:6296)
developmental and epileptic encephalopathy, 7
(MONDO_0013387)
Strong
KCNQ2
(HGNC:6296)
seizures, benign familial neonatal, 2
(MONDO_0007366)
Strong
KCNQ1
(HGNC:6294)
long QT syndrome 1
(MONDO_0100316)
Definitive
KCNQ1
(HGNC:6294)
familial atrial fibrillation
(MONDO_0018054)
Moderate
KCNQ1
(HGNC:6294)
hypertrophic cardiomyopathy
(MONDO_0005045)
Disputed
Showing 1061–1080 of 6681