UBE3A, ubiquitin protein ligase E3A, 7337

N. diseases: 155; N. variants: 125
Disease: Angelman Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		0.800 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454 2016
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		0.800 GeneticVariation UNIPROT Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. 25782669 2015
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		0.800 GeneticVariation UNIPROT Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		G 0.800 GeneticVariation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs587781243
rs587781243
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		0.800 GeneticVariation UNIPROT Mutation analysis of UBE3A in Angelman syndrome patients. 9585605 1998