Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
0.100 Biomarker phenotype HPO
Entrez Id: 215
Gene Symbol: ABCD1
ABCD1
0.100 Biomarker phenotype HPO
Entrez Id: 7415
Gene Symbol: VCP
VCP
0.100 Biomarker phenotype HPO
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.100 Biomarker phenotype HPO
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 Biomarker phenotype HPO
Entrez Id: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker phenotype HPO
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
0.100 Biomarker phenotype HPO
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 165918
Gene Symbol: RNF168
RNF168
0.100 Biomarker phenotype HPO
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7528
Gene Symbol: YY1
YY1
0.100 Biomarker phenotype HPO
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 Biomarker phenotype HPO
Entrez Id: 54664
Gene Symbol: TMEM106B
TMEM106B
0.100 Biomarker phenotype HPO
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.100 Biomarker phenotype HPO
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
0.100 Biomarker phenotype HPO
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.100 Biomarker phenotype HPO
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
0.100 CausalMutation phenotype CLINVAR