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: rs587781231
rs587781231
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		C 0.700 CausalMutation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
dbSNP: rs587781231
rs587781231
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		C 0.700 CausalMutation CLINVAR A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree. 20034088 2010
dbSNP: rs587781231
rs587781231
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		C 0.700 CausalMutation CLINVAR Distinct phenotypes distinguish the molecular classes of Angelman syndrome. 11748306 2001