Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease CTD_human Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. 25362483 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease CTD_human Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.700 Biomarker disease CTD_human Therapy for hyperthermia-induced seizures in Scn1a mutant rats. 21480876 2011
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.500 Biomarker disease CTD_human Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. 25362483 2014
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.450 Biomarker disease CTD_human Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
0.430 Biomarker disease CTD_human Recurrent mutations in three main genes (SCN1A, SCN1B and GABRG2) have been identified that cause febrile seizures with or without epilepsy. 25362483 2014
Entrez Id: 112755
Gene Symbol: STX1B
STX1B
0.420 Biomarker disease CTD_human Here we report the identification of mutations in STX1B, encoding syntaxin-1B, that are associated with both febrile seizures and epilepsy. 25362483 2014
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
0.400 Biomarker disease CTD_human Furthermore, four loci were associated with febrile seizures in general, implicating the sodium channel genes SCN1A (rs6432860: P = 2.2 × 10(-16)) and SCN2A (rs3769955: P = 3.1 × 10(-10)), a TMEM16 family gene (ANO3; rs114444506: P = 3.7 × 10(-20)) and a region associated with magnesium levels (12q21.33; rs11105468: P = 3.4 × 10(-11)). 25344690 2014
Entrez Id: 3613
Gene Symbol: IMPA2
IMPA2
0.330 Biomarker disease CTD_human IMPA2 is likely to be an FS susceptibility gene. 15557493 2004
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.310 Biomarker disease GENOMICS_ENGLAND Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures. 24668262 2014
Entrez Id: 5283
Gene Symbol: PIGH
PIGH
0.300 Biomarker disease GENOMICS_ENGLAND A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. 29573052 2018