Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 GeneticVariation 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 Biomarker 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 GeneticVariation CLINVAR WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. 25411445

2015

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 Biomarker BEFREE WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). 25716914

2015

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 CausalMutation CLINVAR The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. 24456803

2014

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 GeneticVariation UNIPROT The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382

2014

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 GermlineCausalMutation ORPHANET The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. 24369382

2014

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 Biomarker 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 Biomarker 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 GeneticVariation UNIPROT WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. 25411445

2015

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 Biomarker 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 Biomarker 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

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 Biomarker CTD_human

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 CausalMutation CLINVAR

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
0.700 GeneticVariation CLINVAR

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.610 Biomarker BEFREE We showed previously that WWOX is frequently altered in human lung and esophageal cancers. 15073125

2004

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.610 CausalMutation CLINVAR

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.610 Biomarker CTD_human

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus
0.610 CausalMutation CGI

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.600 GeneticVariation GWASDB Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. 22960999

2012

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.600 CausalMutation CGI

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.600 Biomarker CTD_human

Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Squamous cell carcinoma of esophagus
0.530 Biomarker CTD_human Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships. 25526675

2015