WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Dominant hereditary optic atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		0.020 GeneticVariation disease BEFREE Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. 21538838 2011
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		0.020 GeneticVariation disease BEFREE This is the first example of autosomal dominant optic atrophy and hearing loss associated with a WFS1 mutation, supporting the notion that mutations in WFS1 as well as in OPA1 may lead to ADOA combined with impaired hearing. 16648378 2006