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: rs587781233
rs587781233
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: rs587781233
rs587781233
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		T 0.800 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
dbSNP: rs587781233
rs587781233
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