Stats

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

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Gene Disease Score Actions
AQP1
(HGNC:633)
pulmonary arterial hypertension
(MONDO_0015924)
 Moderate
KIF3B
(HGNC:6320)
ciliopathy
(MONDO_0005308)
 Limited
KIF2A
(HGNC:6318)
complex cortical dysplasia with other brain malformations 3
(MONDO_0014170)
 Moderate
KIF1C
(HGNC:6317)
spastic ataxia 2
(MONDO_0012651)
 Moderate
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)
 Strong
KCNQ4
(HGNC:6298)
hearing loss disorder
(MONDO_0005365)
 Strong
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)
 Refuted
KCNQ2
(HGNC:6296)
developmental and epileptic encephalopathy, 7
(MONDO_0013387)
 Strong
KCNQ2
(HGNC:6296)
seizures, benign familial neonatal, 2
(MONDO_0007366)
 Definitive
KCNQ1
(HGNC:6294)
long QT syndrome 1
(MONDO_0100316)
 Definitive
KCNQ1
(HGNC:6294)
familial atrial fibrillation
(MONDO_0018054)
 Limited
KCNQ1
(HGNC:6294)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Disputed
KCNQ1
(HGNC:6294)
long QT syndrome
(MONDO_0002442)
 Definitive
KCNQ1
(HGNC:6294)
short QT syndrome
(MONDO_0000453)
 Moderate
Showing 1081–1100 of 6699