Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN Angelman syndrome in Hong Kong Chinese: A 20 years' experience. 27174604

2016

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN These studies demonstrate the feasibility and utility of unsilencing the paternal copy of Ube3a via targeting Ube3a-ATS as a treatment for Angelman syndrome. 24385930

2013

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN In 10% of AS cases the genetic cause is a mutation affecting the maternal copy of the UBE3A gene. 19213023

2009

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN We screened 24 of the sporadic AS cases without detectable UBE3A mutations for mutations of MECP2, but found none. 14981718

2004

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN We found that the phenotype of mice with maternal deficiency (m-/p+) for Ube3a resembles human AS with motor dysfunction, inducible seizures, and a context-dependent learning deficit. 9808466

1998

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. 9288087

1997

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN We have looked for novel UBE3A mutations in nondeletion/non-UPD/non-imprinting mutation (NDUI) AS patients and have found one patient who is heterozygous for a 5-bp de novo tandem duplication. 8988171

1997

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome
1.000 Biomarker CLINGEN Intragenic mutation of UBE3A in AS is the first example of a genetic disorder of the ubiquitin-dependent proteolytic pathway in mammals. 8988172

1997