Dravet syndrome

Disease Term Disease ID Gene Symbol Classification References Source
DRAVET SYNDROME
33069MONDO:0011794607208MONDO:0100135
GABRA1 Unknown
24623842
Disgenet Orphanet
GABRG2 Unknown
11748509 23093055 21463275 22787626
GWAS catalog Orphanet
PCDH19 Unknown
19214208 22848613 23808377 23093055 21463275
GWAS catalog Orphanet
SCN1A Unknown
11359211 12754708 16458823 16921370 17537961 17928448 20301494 23093055 21463275 22787626 21647847 23808377 23821540 24412860 26438699 30185235
ClinGen GWAS catalog HPO Orphanet
SCN1B Unknown
19710327 23148524 23093055 21463275 22787626
GWAS catalog Orphanet
SCN2A Unknown
19783390
Disgenet Orphanet
SCN9A Unknown
18755274 19763161 21463275 23895530
Orphanet
STXBP1 Unknown
24623842
GWAS catalog