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
SCN5A
(HGNC:10593)
short QT syndrome
(MONDO_0000453)
 Disputed
SCN4A
(HGNC:10591)
congenital myopathy
(MONDO_0019952)
 Strong
SCN4B
(HGNC:10592)
long QT syndrome
(MONDO_0002442)
 Limited
SCN3A
(HGNC:10590)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Moderate
SCN4A
(HGNC:10591)
potassium-aggravated myotonia
(MONDO_0018959)
 Strong
SCN4A
(HGNC:10591)
hypokalemic periodic paralysis, type 2
(MONDO_0013234)
 Strong
BLM
(HGNC:1058)
hereditary nonpolyposis colon cancer
(MONDO_0018630)
 Limited
SCN4A
(HGNC:10591)
hyperkalemic periodic paralysis
(MONDO_0008224)
 Definitive
SCN4A
(HGNC:10591)
hypokalemic periodic paralysis
(MONDO_0008223)
 Definitive
BLM
(HGNC:1058)
Bloom syndrome
(MONDO_0008876)
 Definitive
BLM
(HGNC:1058)
osteosarcoma
(MONDO_0009807)
 Limited
SCN4A
(HGNC:10591)
paramyotonia congenita of Von Eulenburg
(MONDO_0008195)
 Definitive
BLM
(HGNC:1058)
breast cancer
(MONDO_0007254)
 Disputed
SCN2B
(HGNC:10589)
Brugada syndrome
(MONDO_0015263)
 Limited
SCN2A
(HGNC:10588)
West syndrome
(MONDO_0018097)
 Moderate
SCN2A
(HGNC:10588)
benign familial infantile epilepsy
(MONDO_0017615)
 Strong
SCN2A
(HGNC:10588)
seizures, benign familial infantile, 3
(MONDO_0011904)
 Strong
SCN2A
(HGNC:10588)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Limited
SCN2A
(HGNC:10588)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
SCN2A
(HGNC:10588)
intellectual disability
(MONDO_0001071)
 Strong
Showing 4261–4280 of 6699