Search for a gene
WFS1 - wolframin ER transmembrane glycoprotein
- Synonym(s) : DIDMOAD, WFS
- Previous symbols and names : DFNA14, DFNA38, DFNA6, Wolfram syndrome 1 (wolframin)
- Type : gene with protein product
- Chromosomal location : 4p16.1
- OMIM: 606201
- HGNC: 12762
- UniProtKB: O76024
- Genatlas: WFS1
- GenCC: WFS1
- Ensembl: ENSG00000109501
- IUPHAR-DB: -
- Reactome: O76024
- LOVD: WFS1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635 
- Disease-causing germline mutation(s) in Early-onset nuclear cataract
ORPHA:98991 - Disease-causing germline mutation(s) in Wolfram-like syndrome
ORPHA:411590 - Disease-causing germline mutation(s) (loss of function) in Wolfram syndrome
ORPHA:3463
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.