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
CACNB4
(HGNC:1404)
epilepsy
(MONDO_0005027)
 Limited
CACNB4
(HGNC:1404)
juvenile myoclonic epilepsy
(MONDO_0009696)
 Limited
CACNB2
(HGNC:1402)
short QT syndrome
(MONDO_0000453)
 Limited
CACNB2
(HGNC:1402)
hypertrophic cardiomyopathy
(MONDO_0005045)
 Limited
CSMD1
(HGNC:14026)
autism spectrum disorder
(MONDO_0005258)
 Limited
SLC5A7
(HGNC:14025)
distal hereditary motor neuropathy type 7
(MONDO_0015355)
 Moderate
SLC5A7
(HGNC:14025)
congenital myasthenic syndrome 20
(MONDO_0014939)
 Strong
TRPV6
(HGNC:14006)
hyperparathyroidism, transient neonatal
(MONDO_0032591)
 Moderate
TRPV6
(HGNC:14006)
pancreatitis
(MONDO_0004982)
 Strong
ANO3
(HGNC:14004)
dystonia 24
(MONDO_0014019)
 Strong
PRDM16
(HGNC:14000)
left ventricular noncompaction
(MONDO_0018901)
 Moderate
CACNA2D1
(HGNC:1399)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Limited
PRDM16
(HGNC:14000)
dilated cardiomyopathy
(MONDO_0005021)
 Moderate
CACNA2D1
(HGNC:1399)
Brugada syndrome
(MONDO_0015263)
 Limited
CACNA2D1
(HGNC:1399)
short QT syndrome
(MONDO_0000453)
 Limited
PRDM12
(HGNC:13997)
hereditary sensory and autonomic neuropathy
(MONDO_0015364)
 Moderate
PRDM12
(HGNC:13997)
congenital insensitivity to pain-hypohidrosis syndrome
(MONDO_0014662)
 Moderate
CACNA1S
(HGNC:1397)
congenital myopathy 18
(MONDO_0859514)
 Limited
CACNA1S
(HGNC:1397)
hypokalemic periodic paralysis, type 1
(MONDO_0042979)
 Strong
CACNA1S
(HGNC:1397)
congenital myopathy
(MONDO_0019952)
 Moderate
Showing 3481–3500 of 6699