Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C3280452
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 		disease 0.730 None 1.000 2 9 2014 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		disease 0.700 None 1.000 0 7 2014 2015
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		disease 0.610 None 1.000 0 1 2004 2004
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.170 None 1.000 0 2 2015 2019
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.130 None 1.000 0 1 2016 2018
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C3463992
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 		disease 0.100 None 1.000 1 6 2014 2014
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C4016881
Disease: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC
ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC 		disease 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX 		WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease 0.100 None 0 1