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: 2056
Gene Symbol: EPO
EPO
0.100 Biomarker phenotype HPO
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
0.100 Biomarker phenotype HPO
Entrez Id: 2034
Gene Symbol: EPAS1
EPAS1
0.100 Biomarker phenotype HPO
Entrez Id: 54583
Gene Symbol: EGLN1
EGLN1
0.100 Biomarker phenotype HPO
Entrez Id: 3717
Gene Symbol: JAK2
JAK2
0.100 Biomarker phenotype HPO
Entrez Id: 7428
Gene Symbol: VHL
VHL
0.100 Biomarker phenotype HPO