Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.100 Biomarker phenotype HPO
Entrez Id: 8295
Gene Symbol: TRRAP
TRRAP
0.100 Biomarker phenotype HPO
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
0.100 Biomarker phenotype HPO
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
0.100 Biomarker phenotype HPO
Entrez Id: 8626
Gene Symbol: TP63
TP63
0.100 Biomarker phenotype HPO
Entrez Id: 2812
Gene Symbol: GP1BB
GP1BB
0.100 Biomarker phenotype HPO
Entrez Id: 56623
Gene Symbol: INPP5E
INPP5E
0.100 Biomarker phenotype HPO
Entrez Id: 8481
Gene Symbol: OFD1
OFD1
0.100 Biomarker phenotype HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
0.100 Biomarker phenotype HPO
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
0.100 Biomarker phenotype HPO
Entrez Id: 6598
Gene Symbol: SMARCB1
SMARCB1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.100 Biomarker phenotype HPO
Entrez Id: 875
Gene Symbol: CBS
CBS
0.100 Biomarker phenotype HPO
Entrez Id: 2990
Gene Symbol: GUSB
GUSB
0.100 Biomarker phenotype HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH
0.100 Biomarker phenotype HPO
Entrez Id: 4854
Gene Symbol: NOTCH3
NOTCH3
0.100 Biomarker phenotype HPO
Entrez Id: 81031
Gene Symbol: SLC2A10
SLC2A10
0.100 Biomarker phenotype HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker phenotype HPO
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
0.100 Biomarker phenotype HPO
Entrez Id: 4212
Gene Symbol: MEIS2
MEIS2
0.100 Biomarker phenotype HPO
Entrez Id: 84992
Gene Symbol: PIGY
PIGY
0.100 Biomarker phenotype HPO
Entrez Id: 55690
Gene Symbol: PACS1
PACS1
0.100 Biomarker phenotype HPO
Entrez Id: 2588
Gene Symbol: GALNS
GALNS
0.100 Biomarker phenotype HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker phenotype HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12
0.100 Biomarker phenotype HPO