Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.500 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
0.500 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 1909
Gene Symbol: EDNRA
EDNRA
0.500 Biomarker phenotype CTD_human
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
0.500 Biomarker phenotype CTD_human
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.300 Biomarker phenotype CTD_human
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1
0.100 GeneticVariation phenotype CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8893
Gene Symbol: EIF2B5
EIF2B5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23118
Gene Symbol: TAB2
TAB2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3746
Gene Symbol: KCNC1
KCNC1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10019
Gene Symbol: SH2B3
SH2B3
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5498
Gene Symbol: PPOX
PPOX
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6311
Gene Symbol: ATXN2
ATXN2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
0.100 GeneticVariation phenotype CLINVAR