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: 775
Gene Symbol: CACNA1C
CACNA1C 		0.010 GeneticVariation disease BEFREE Timothy syndrome is characterized by a unique combination of a prolongation of the corrected QT interval of the electrocardiogram and bilateral cutaneous syndactyly of the fingers and the toes and is caused by heterozygous mutations in CACNA1C, a gene encoding a calcium channel. 29736926 2018
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		0.100 CausalMutation disease CLINVAR
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