Gene: CYP21A2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		0.020 GeneticVariation disease BEFREE Some variants that cause autosomal-recessive congenital adrenal hyperplasia (CAH) also cause hypermobility type Ehlers-Danlos syndrome (EDS) due to the monoallelic presence of a chimera disrupting two flanking genes: CYP21A2, encoding 21-hydroxylase, necessary for cortisol and aldosterone biosynthesis, and TNXB, encoding tenascin-X, an extracellular matrix protein. 27297501 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		0.020 GeneticVariation disease BEFREE CYP21A2 mutations cause CAH, and TNX deficiency has been identified as a cause of hypermobility type Ehlers-Danlos syndrome (EDS). 19921645 2009