WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Nuclear cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 GermlineCausalMutation disease ORPHANET Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. 23531866 2013
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		0.400 Biomarker disease HPO