|
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)
|
Limited
|
|
|
SCN1A
(HGNC:10585)
|
developmental and epileptic encephalopathy
(MONDO_0100062)
|
Definitive
|
|
|
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)
|
Limited
|
|
|
SCN1A
(HGNC:10585)
|
migraine, familial hemiplegic, 3
(MONDO_0012320)
|
Moderate
|
|
|
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)
|
Disputed
|
|
|
BLK
(HGNC:1057)
|
systemic lupus erythematosus
(MONDO_0007915)
|
Strong
|
|
|
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
|
|
|
SATB1
(HGNC:10541)
|
neurodevelopmental disorder
(MONDO_0700092)
|
Strong
|
|
|
BIN1
(HGNC:1052)
|
centronuclear myopathy
(MONDO_0018947)
|
Strong
|
|