COL6A2, collagen type VI alpha 2 chain, 1292

N. diseases: 124; N. variants: 63
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 AlteredExpression group BEFREE Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects. 22072978 2011
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome. 8094066 1993