Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
0.100 Biomarker phenotype HPO
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 523
Gene Symbol: ATP6V1A
ATP6V1A
0.100 Biomarker phenotype HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
0.100 Biomarker phenotype HPO
Entrez Id: 9382
Gene Symbol: COG1
COG1
0.100 Biomarker phenotype HPO
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
0.100 Biomarker phenotype HPO
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 91869
Gene Symbol: RFT1
RFT1
0.100 Biomarker phenotype HPO
Entrez Id: 10466
Gene Symbol: COG5
COG5
0.100 Biomarker phenotype HPO
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 22845
Gene Symbol: DOLK
DOLK
0.100 Biomarker phenotype HPO
Entrez Id: 79053
Gene Symbol: ALG8
ALG8
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 529
Gene Symbol: ATP6V1E1
ATP6V1E1
0.100 Biomarker phenotype HPO
Entrez Id: 9526
Gene Symbol: MPDU1
MPDU1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8818
Gene Symbol: DPM2
DPM2
0.100 Biomarker phenotype HPO