WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
Disease: Low frequency deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.050 GeneticVariation disease BEFREE Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family. 28802351 2017
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.050 GeneticVariation disease BEFREE Two individuals who had heterozygosity of GJB2 mutations and heterozygosity of WFS1 mutations showed low-frequency hearing loss. 22498363 2012
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.050 GeneticVariation disease BEFREE Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese. 17492394 2007
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.050 GeneticVariation disease BEFREE Studies in low-frequency hearing loss families showed that mutations in WFS1 were responsible for the phenotype. 12650912 2003
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		0.050 GeneticVariation disease BEFREE Unusual phenotypes in autosomal dominant forms of deafness, include low frequency hearing loss in DFNA1 (HDIA1) and DFNA6/14/38 (WFS1), mid-frequency hearing loss in DFNA8/12 (TECTA), DFNA13 (COL11A2) and vestibular symptoms and signs in DFNA9 (COCH) and sometimes in DFNA11 (MYO7A). 12324385 2002