Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		0.400 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.110 Biomarker phenotype HPO
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.110 Biomarker phenotype HPO
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.110 Biomarker phenotype HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype HPO
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		0.110 Biomarker phenotype HPO
Entrez Id: 64220
Gene Symbol: STRA6
STRA6 		0.100 Biomarker phenotype HPO
Entrez Id: 871
Gene Symbol: SERPINH1
SERPINH1 		0.100 Biomarker phenotype HPO
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.100 Biomarker phenotype HPO
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