WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 GeneticVariation disease BEFREE Defects of WW domain-containing oxidoreductase (WWOX) has been associated with autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. 31669195 2019
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 Biomarker disease BEFREE WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy. 30094525 2018
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 GeneticVariation disease CLINVAR WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. 25411445 2015
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 Biomarker disease BEFREE WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). 25716914 2015
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 GeneticVariation disease UNIPROT The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 CausalMutation disease CLINVAR The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 GeneticVariation disease UNIPROT The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 GermlineCausalMutation disease ORPHANET The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 Biomarker disease GENOMICS_ENGLAND The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 Biomarker disease GENOMICS_ENGLAND The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803 2014
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		0.730 Biomarker disease GENOMICS_ENGLAND