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Gene–disease association summaries
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
|
|