Disease: Congenital malformation syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.030 GeneticVariation disease BEFREE CHARGE syndrome (OMIM 214800) is a rare autosomal-dominant congenital malformation syndrome that results from haploinsufficiency of the chromodomain helicase DNA-binding protein 7 (CHD7). 26538304 2016
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.030 GeneticVariation disease BEFREE CHARGE syndrome is a rare, usually sporadic disorder of multiple congenital anomalies ascribed to a CHD7 gene mutation in 60% of cases. 23024289 2012
CUI: C1302790
Disease: Congenital malformation syndrome
Congenital malformation syndrome 		0.030 GeneticVariation disease BEFREE The CHARGE syndrome is a multiple congenital malformation syndrome that usually results from deletion or heterozygous loss of function mutations of the chromodomain helicase DNA-binding protein 7 (CHD7) gene at 8q12.1. 21094707 2011