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Stats

Total associations
6681
Unique genes
4239
Unique diseases
3297
Gene–disease association summaries
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Gene–Disease Browser

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Gene Disease Score Actions
SCN2A
(HGNC:10588)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
SCN2A
(HGNC:10588)
intellectual disability
(MONDO_0001071)
 Strong
SCN1B
(HGNC:10586)
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
 Strong
SCN1B
(HGNC:10586)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Moderate
SCN1A
(HGNC:10585)
Dravet syndrome
(MONDO_0100135)
 Definitive
SCN1A
(HGNC:10585)
generalized epilepsy with febrile seizures plus
(MONDO_0018214)
 Definitive
SCN1A
(HGNC:10585)
malignant migrating partial seizures of infancy
(MONDO_0017385)
 Moderate
SCN1A
(HGNC:10585)
developmental and epileptic encephalopathy
(MONDO_0100062)
 Strong
SCN1A
(HGNC:10585)
Lennox-Gastaut syndrome
(MONDO_0016532)
 Limited
SCN1A
(HGNC:10585)
familial hemiplegic migraine
(MONDO_0000700)
 Strong
SCN1A
(HGNC:10585)
myoclonic-astatic epilepsy
(MONDO_0016025)
 Disputed
SCN1A
(HGNC:10585)
migraine, familial hemiplegic, 3
(MONDO_0012320)
 Strong
SCN10A
(HGNC:10582)
Brugada syndrome
(MONDO_0015263)
 Moderate
BLK
(HGNC:1057)
monogenic diabetes
(MONDO_0015967)
 Disputed
BLK
(HGNC:1057)
maturity-onset diabetes of the young
(MONDO_0018911)
 Limited
BLK
(HGNC:1057)
systemic lupus erythematosus
(MONDO_0007915)
 Definitive
ATXN2
(HGNC:10555)
spinocerebellar ataxia type 2
(MONDO_0008458)
 Definitive
ATXN7
(HGNC:10560)
autosomal dominant cerebellar ataxia type II
(MONDO_0016163)
 Definitive
ATXN10
(HGNC:10549)
spinocerebellar ataxia type 10
(MONDO_0011330)
 Definitive
ATXN1
(HGNC:10548)
spinocerebellar ataxia type 1
(MONDO_0008119)
 Definitive
Showing 4261–4280 of 6681