COL6A6, collagen type VI alpha 6 chain, 131873

N. diseases: 8; N. variants: 1
Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE Comparative WES analysis showed a new variant (p.Gly103Arg in the COL6A6 gene) that segregated with the disease in one family with adRP. 26321861 2015