Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55280
Gene Symbol: CWF19L1
CWF19L1
0.100 Biomarker phenotype HPO
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
0.100 Biomarker phenotype HPO
Entrez Id: 1600
Gene Symbol: DAB1
DAB1
0.100 Biomarker phenotype HPO
Entrez Id: 55157
Gene Symbol: DARS2
DARS2
0.100 Biomarker phenotype HPO
Entrez Id: 1938
Gene Symbol: EEF2
EEF2
0.100 Biomarker phenotype HPO
Entrez Id: 1960
Gene Symbol: EGR3
EGR3
0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
0.100 Biomarker phenotype HPO
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
0.300 Biomarker phenotype CTD_human Selective antagonism of the ataxic effects of zolpidem and triazolam by the GABAA/alpha1-preferring antagonist beta-CCt in squirrel monkeys. 12404077 2002
Entrez Id: 2557
Gene Symbol: GABRA4
GABRA4
0.300 Biomarker phenotype CTD_human Egr3 stimulation of GABRA4 promoter activity as a mechanism for seizure-induced up-regulation of GABA(A) receptor alpha4 subunit expression. 16091474 2005
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
0.100 Biomarker phenotype HPO
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
0.100 Biomarker phenotype HPO
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
0.100 Biomarker phenotype HPO
Entrez Id: 348980
Gene Symbol: HCN1
HCN1
0.300 Biomarker phenotype CTD_human Gabapentin treatment improves motor coordination in a mice model of progressive ataxia. 19747469 2009
Entrez Id: 26275
Gene Symbol: HIBCH
HIBCH
0.100 Biomarker phenotype HPO
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.100 Biomarker phenotype HPO
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.100 Biomarker phenotype HPO
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
0.100 Biomarker phenotype HPO
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.100 Biomarker phenotype HPO
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 339983
Gene Symbol: NAT8L
NAT8L
0.100 Biomarker phenotype HPO
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
0.100 Biomarker phenotype HPO