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
CACNA1S
(HGNC:1397)
malignant hyperthermia, susceptibility to, 5
(MONDO_0011163)
 Moderate
CACNA1S
(HGNC:1397)
hypokalemic periodic paralysis
(MONDO_0008223)
 Definitive
CACNA1H
(HGNC:1395)
hyperaldosteronism, familial, type IV
(MONDO_0014875)
 Moderate
CACNA1H
(HGNC:1395)
childhood absence epilepsy
(MONDO_0010826)
 Limited
CACNA1G
(HGNC:1394)
neurodevelopmental disorder
(MONDO_0700092)
 Moderate
CACNA1G
(HGNC:1394)
spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
(MONDO_0060758)
 Strong
CACNA1G
(HGNC:1394)
spinocerebellar ataxia type 42
(MONDO_0014776)
 Strong
CACNA1G
(HGNC:1394)
intellectual disability
(MONDO_0001071)
 Limited
CACNA1F
(HGNC:1393)
inherited retinal dystrophy
(MONDO_0019118)
 Strong
CACNA1F
(HGNC:1393)
cone-rod dystrophy
(MONDO_0015993)
 Moderate
CACNA1F
(HGNC:1393)
Aland island eye disease
(MONDO_0010371)
 Moderate
CACNA1F
(HGNC:1393)
X-linked cone-rod dystrophy 3
(MONDO_0010335)
 Moderate
CACNA1F
(HGNC:1393)
congenital stationary night blindness 2A
(MONDO_0010241)
 Definitive
MPIG6B
(HGNC:13937)
thrombocytopenia, anemia, and myelofibrosis
(MONDO_0044316)
 Moderate
CACNA1C
(HGNC:1390)
Brugada syndrome
(MONDO_0015263)
 Moderate
CACNA1E
(HGNC:1392)
neurodevelopmental disorder
(MONDO_0700092)
 Strong
CACNA1C
(HGNC:1390)
Timothy syndrome
(MONDO_0010979)
 Strong
CACNA1C
(HGNC:1390)
long QT syndrome
(MONDO_0002442)
 Moderate
CACNA1C
(HGNC:1390)
intellectual disability
(MONDO_0001071)
 Limited
CACNA1C
(HGNC:1390)
short QT syndrome
(MONDO_0000453)
 Limited
Showing 3501–3520 of 6699