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: rs863225068
rs863225068
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		C 0.700 CausalMutation CLINVAR Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions. 19213023 2009
dbSNP: rs863225068
rs863225068
Entrez Id: 7337;104472715
Gene Symbol: UBE3A;SNHG14
UBE3A;SNHG14
CUI: C0162635
Disease:
Angelman Syndrome 		C 0.700 CausalMutation CLINVAR Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS. 14981718 2004