Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
0.100 Biomarker phenotype HPO
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
0.100 Biomarker phenotype HPO
Entrez Id: 5873
Gene Symbol: RAB27A
RAB27A
0.100 Biomarker phenotype HPO
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
0.100 Biomarker phenotype HPO
Entrez Id: 10102
Gene Symbol: TSFM
TSFM
0.100 Biomarker phenotype HPO
Entrez Id: 201595
Gene Symbol: STT3B
STT3B
0.100 Biomarker phenotype HPO
Entrez Id: 57038
Gene Symbol: RARS2
RARS2
0.100 Biomarker phenotype HPO
Entrez Id: 3155
Gene Symbol: HMGCL
HMGCL
0.100 Biomarker phenotype HPO
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6
0.100 Biomarker phenotype HPO
Entrez Id: 8647
Gene Symbol: ABCB11
ABCB11
0.100 Biomarker phenotype HPO
Entrez Id: 10525
Gene Symbol: HYOU1
HYOU1
0.100 Biomarker phenotype HPO
Entrez Id: 79751
Gene Symbol: SLC25A22
SLC25A22
0.100 Biomarker phenotype HPO
Entrez Id: 18
Gene Symbol: ABAT
ABAT
0.100 Biomarker phenotype HPO
Entrez Id: 5660
Gene Symbol: PSAP
PSAP
0.100 Biomarker phenotype HPO
Entrez Id: 4967
Gene Symbol: OGDH
OGDH
0.100 Biomarker phenotype HPO
Entrez Id: 197131
Gene Symbol: UBR1
UBR1
0.100 Biomarker phenotype HPO
Entrez Id: 84153
Gene Symbol: RNASEH2C
RNASEH2C
0.100 Biomarker phenotype HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
0.100 Biomarker phenotype HPO
Entrez Id: 4784
Gene Symbol: NFIX
NFIX
0.100 Biomarker phenotype HPO
Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10535
Gene Symbol: RNASEH2A
RNASEH2A
0.100 Biomarker phenotype HPO
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
0.100 Biomarker phenotype HPO
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.100 Biomarker phenotype HPO