Generalized epilepsy with febrile seizures plus

Disease Term Disease ID Gene Symbol Classification References Source
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS
C3502809MONDO:0018214
ANO4 Causal — Disgenet
SCN1A Causal
10742094 11254444 11254445 11524484 11756608 12086636 12576172 14702334 17537961 19409490 24257433 25378155 25576396 28084635 28842445
ClinGen Disgenet GWAS catalog
SCN2A Causal — Disgenet
SCN9A Causal — Disgenet
SLC32A1 Causal — Disgenet
STX1B Causal
25362483 27781031 30737342 32572454 32858780
ClinGen Disgenet
CPA6 Unknown — Disgenet
FGF13 Unknown — Disgenet
GABRG2 Unknown — Disgenet GenCC
HCN1 Unknown
24747641 27864847 30351409 33822003 35359652 35972069
ClinGen Disgenet GWAS catalog
PRRT2 Unknown — Disgenet
SCN1B Unknown
12011299 14504340 17020904 19522081 20628201 23090990 28726809 30660056 31709768 31729702 31980526 35704740 35886038 9697698
ClinGen Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, 7
C2751778
SCN9A Unknown — Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
C1858672604233MESH:C565809MONDO:0011416
SCN1A Causal — Disgenet
SCN1B Causal
11866477 14504340 17020904 17629415 19710327 19808477 22292491 24065921 30660056 9697698
CTD ClinVar Disgenet GWAS catalog HPO
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
618482C5193120MONDO:0032777
HCN1 Causal
30351409
CTD ClinVar Disgenet HPO
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12
620755C5935592MONDO:0958324
SLC32A1 Causal
34038384 36073542
ClinVar Disgenet GWAS catalog HPO
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
604403C1858673MESH:C565810MONDO:0011461
SCN1A Causal — CTD ClinVar Disgenet GenCC HPO
RELN Unknown — Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
C1858674
GABRG2 Unknown — Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5
C3501643
GABRD Unknown — Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
MONDO:0013470
SCN9A Causal
19763161 23895530 31394368 32062735 33216760
Disgenet
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
616172C4015395MONDO:0014517OMIM:616172
STX1B Causal
25362483
CTD ClinVar Disgenet GenCC HPO
HSD3B7 Unknown — Disgenet
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS
36387
ADGRV1 Unknown
12402266
Orphanet
CPA6 Unknown
21922598
Orphanet
FGF13 Unknown
26063919 33245860
Orphanet
GABRD Unknown — Orphanet
GABRG2 Unknown — Orphanet
HCN1 Unknown
30351409
Orphanet
PRRT2 Unknown
25522171
Orphanet
SCN1A Unknown
20301494
Orphanet
SCN1B Unknown — Orphanet
SCN2A Unknown — Orphanet
SCN9A Unknown — Orphanet
SLC32A1 Unknown
34038384
Orphanet
STX1B Unknown
25362483
Orphanet