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WWOX - WW domain containing oxidoreductase
- Synonym(s) : FOR, SDR41C1, short chain dehydrogenase/reductase family 41C, member 1, WOX1
- Previous symbols and names : WW domain-containing oxidoreductase
- Type : gene with protein product
- Chromosomal location : 16q23.1-q23.2
- OMIM: 605131
- HGNC: 12799
- UniProtKB: Q9NZC7
- Genatlas: WWOX
- GenCC: WWOX
- Ensembl: ENSG00000186153
- IUPHAR-DB: -
- Reactome: Q9NZC7
- LOVD: WWOX
Diseases list
- Disease-causing germline mutation(s) in 46,XY partial gonadal dysgenesis
ORPHA:251510 
- Disease-causing germline mutation(s) in Non-specific early-onset epileptic encephalopathy
ORPHA:442835 - Disease-causing germline mutation(s) (loss of function) in Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
ORPHA:284282 - Major susceptibility factor in Squamous cell carcinoma of the esophagus
ORPHA:99977
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
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