Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.110 GeneticVariation disease BEFREE We report on a case of thanatophoric dysplasia type 1 (TD1) due to a Tyr373Cys mutation in the fibroblast growth factor receptor 3 (FGFR3) gene with soft tissue syndactyly of the fingers and toes. 9843049 1998
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.110 Biomarker disease HPO
Entrez Id: 26227
Gene Symbol: PHGDH
PHGDH 		0.100 Biomarker disease HPO
Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1 		0.100 Biomarker disease HPO
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		0.100 Biomarker disease HPO
Entrez Id: 652
Gene Symbol: BMP4
BMP4 		0.100 Biomarker disease HPO
Entrez Id: 55612
Gene Symbol: FERMT1
FERMT1 		0.100 Biomarker disease HPO
Entrez Id: 79633
Gene Symbol: FAT4
FAT4 		0.100 Biomarker disease HPO
Entrez Id: 145873
Gene Symbol: MESP2
MESP2 		0.100 Biomarker disease HPO
Entrez Id: 91754
Gene Symbol: NEK9
NEK9 		0.100 Biomarker disease HPO
Entrez Id: 55215
Gene Symbol: FANCI
FANCI 		0.100 Biomarker disease HPO
Entrez Id: 64093
Gene Symbol: SMOC1
SMOC1 		0.100 Biomarker disease HPO
Entrez Id: 134701
Gene Symbol: RIPPLY2
RIPPLY2 		0.100 Biomarker disease HPO
Entrez Id: 2122
Gene Symbol: MECOM
MECOM 		0.100 Biomarker disease HPO
Entrez Id: 2239
Gene Symbol: GPC4
GPC4 		0.100 Biomarker disease HPO
Entrez Id: 54880
Gene Symbol: BCOR
BCOR 		0.100 Biomarker disease HPO
Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1 		0.100 Biomarker disease HPO
Entrez Id: 2077
Gene Symbol: ERF
ERF 		0.100 Biomarker disease HPO
Entrez Id: 585
Gene Symbol: BBS4
BBS4 		0.100 Biomarker disease HPO
Entrez Id: 10683
Gene Symbol: DLL3
DLL3 		0.100 Biomarker disease HPO
Entrez Id: 7979
Gene Symbol: SEM1
SEM1 		0.100 Biomarker disease HPO
Entrez Id: 6134
Gene Symbol: RPL10
RPL10 		0.100 Biomarker disease HPO
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		0.100 Biomarker disease HPO
Entrez Id: 9791
Gene Symbol: PTDSS1
PTDSS1 		0.100 Biomarker disease HPO
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B 		0.100 Biomarker disease HPO