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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.
|
25411445 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
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 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of esophagus
|
0.610 |
Biomarker
|
disease |
BEFREE |
We showed previously that WWOX is frequently altered in human lung and esophageal cancers.
|
15073125 |
2004 |
Malignant neoplasm of esophagus
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Malignant neoplasm of esophagus
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
Malignant neoplasm of esophagus
|
0.610 |
CausalMutation
|
disease |
CGI |
|
|
|
Esophageal Neoplasms
|
0.600 |
GeneticVariation
|
group |
GWASDB |
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
|
22960999 |
2012 |
Esophageal Neoplasms
|
0.600 |
CausalMutation
|
group |
CGI |
|
|
|
Esophageal Neoplasms
|
0.600 |
Biomarker
|
group |
CTD_human |
|
|
|
Squamous cell carcinoma of esophagus
|
0.530 |
Biomarker
|
disease |
CTD_human |
Towards a systematic analysis of human short-chain dehydrogenases/reductases (SDR): Ligand identification and structure-activity relationships.
|
25526675 |
2015 |