WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777127
rs587777127
Entrez Id: 4094;51741
Gene Symbol: MAF;WWOX
MAF;WWOX
CUI: C3280452
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 GeneticVariation UNIPROT The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
dbSNP: rs587777127
rs587777127
Entrez Id: 4094;51741
Gene Symbol: MAF;WWOX
MAF;WWOX
CUI: C3280452
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.800 GeneticVariation UNIPROT The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382 2014
dbSNP: rs587777127
rs587777127
Entrez Id: 4094;51741
Gene Symbol: MAF;WWOX
MAF;WWOX
CUI: C3280452
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		C 0.800 CausalMutation CLINVAR