Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
0.100 CausalMutation disease CLINVAR
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
0.100 Biomarker disease HPO
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
0.100 Biomarker disease HPO
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.100 Biomarker disease HPO
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
0.100 Biomarker disease HPO
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
0.100 Biomarker disease HPO
Entrez Id: 5611
Gene Symbol: DNAJC3
DNAJC3
0.100 Biomarker disease HPO
Entrez Id: 4538
Gene Symbol: ND4
ND4
0.100 Biomarker disease HPO
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.100 Biomarker disease HPO
Entrez Id: 5173
Gene Symbol: PDYN
PDYN
0.100 Biomarker disease HPO
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55699
Gene Symbol: IARS2
IARS2
0.100 Biomarker disease HPO
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.100 Biomarker disease HPO
Entrez Id: 4566
Gene Symbol: TRNK
TRNK
0.100 Biomarker disease HPO
Entrez Id: 4578
Gene Symbol: TRNW
TRNW
0.100 Biomarker disease HPO
Entrez Id: 5165
Gene Symbol: PDK3
PDK3
0.100 Biomarker disease HPO
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1
0.100 Biomarker disease HPO
Entrez Id: 4577
Gene Symbol: TRNV
TRNV
0.100 Biomarker disease HPO
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
0.100 Biomarker disease HPO
Entrez Id: 112812
Gene Symbol: FDX2
FDX2
0.100 Biomarker disease HPO
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2
0.100 Biomarker disease HPO
Entrez Id: 5264
Gene Symbol: PHYH
PHYH
0.100 Biomarker disease HPO
Entrez Id: 4744
Gene Symbol: NEFH
NEFH
0.100 Biomarker disease HPO
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
0.100 Biomarker disease HPO
Entrez Id: 476
Gene Symbol: ATP1A1
ATP1A1
0.100 Biomarker disease HPO