Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65992
Gene Symbol: DDRGK1
DDRGK1
0.100 Biomarker group HPO
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
0.100 Biomarker group HPO
Entrez Id: 22948
Gene Symbol: CCT5
CCT5
0.100 Biomarker group HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 Biomarker group HPO
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
0.100 Biomarker group HPO
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
0.100 Biomarker group HPO
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
0.100 Biomarker group HPO
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
0.100 Biomarker group HPO
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
0.100 Biomarker group HPO
Entrez Id: 4322
Gene Symbol: MMP13
MMP13
0.100 Biomarker group HPO
Entrez Id: 23247
Gene Symbol: KIAA0556
KIAA0556
0.100 Biomarker group HPO
Entrez Id: 8622
Gene Symbol: PDE8B
PDE8B
0.100 Biomarker group HPO
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.100 Biomarker group HPO
Entrez Id: 57679
Gene Symbol: ALS2
ALS2
0.100 CausalMutation group CLINVAR
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.100 GeneticVariation group CLINVAR
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 Biomarker group HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker group HPO
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.100 Biomarker group HPO
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.100 CausalMutation group CLINVAR
Entrez Id: 8891
Gene Symbol: EIF2B3
EIF2B3
0.100 Biomarker group HPO
Entrez Id: 390594
Gene Symbol: KBTBD13
KBTBD13
0.100 Biomarker group HPO
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
0.100 Biomarker group HPO
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
0.100 Biomarker group HPO
Entrez Id: 11107
Gene Symbol: PRDM5
PRDM5
0.100 Biomarker group HPO
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
0.100 Biomarker group HPO