Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7
0.300 Biomarker phenotype CTD_human Mitochondria in hematopoiesis and hematological diseases. 16892088 2006
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2
0.300 Biomarker phenotype CTD_human entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. 14660671 2004
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.300 Biomarker phenotype CTD_human Autosomal dominant glut-1 deficiency syndrome and familial epilepsy. 11603379 2001
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: 538
Gene Symbol: ATP7A
ATP7A
0.300 Biomarker phenotype CTD_human Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC). 22815746 2012
Entrez Id: 785
Gene Symbol: CACNB4
CACNB4
0.400 Biomarker phenotype HPO
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
0.400 Biomarker phenotype HPO
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
0.110 Biomarker phenotype HPO
Entrez Id: 5192
Gene Symbol: PEX10
PEX10
0.100 Biomarker phenotype HPO
Entrez Id: 84504
Gene Symbol: NKX6-2
NKX6-2
0.100 Biomarker phenotype HPO
Entrez Id: 55129
Gene Symbol: ANO10
ANO10
0.100 Biomarker phenotype HPO
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
0.100 Biomarker phenotype HPO
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.100 Biomarker phenotype HPO
Entrez Id: 153241
Gene Symbol: CEP120
CEP120
0.100 Biomarker phenotype HPO
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
0.100 Biomarker phenotype HPO
Entrez Id: 11128
Gene Symbol: POLR3A
POLR3A
0.100 Biomarker phenotype HPO
Entrez Id: 1600
Gene Symbol: DAB1
DAB1
0.100 Biomarker phenotype HPO
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
0.100 Biomarker phenotype HPO
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
0.100 Biomarker phenotype HPO
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
0.100 Biomarker phenotype HPO
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
0.100 Biomarker phenotype HPO
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY
0.100 Biomarker phenotype HPO
Entrez Id: 255928
Gene Symbol: SYT14
SYT14
0.100 Biomarker phenotype HPO
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
0.100 Biomarker phenotype HPO
Entrez Id: 51761
Gene Symbol: ATP8A2
ATP8A2
0.100 Biomarker phenotype HPO