Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113189
Gene Symbol: CHST14
CHST14 		0.300 Biomarker phenotype CTD_human Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene. 20842734 2010
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469 		0.300 Biomarker phenotype CTD_human Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888 2008
Entrez Id: 1311
Gene Symbol: COMP
COMP 		0.300 Biomarker phenotype CTD_human Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene. 9887340 1999