Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1644
Gene Symbol: DDC
DDC
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7054
Gene Symbol: TH
TH
0.100 Biomarker phenotype HPO
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
0.100 Biomarker phenotype HPO
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
0.100 Biomarker phenotype HPO
Entrez Id: 1644
Gene Symbol: DDC
DDC
0.100 Biomarker phenotype HPO
Entrez Id: 55163
Gene Symbol: PNPO
PNPO
0.100 Biomarker phenotype HPO