Source: CURATED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		disease 1.000 definitive 0.967 12 122 1997 2020
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.500 None 1.000 3 0 1999 2019
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease 0.350 None 1.000 1 0 2003 2016
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0236018
Disease: Aura
Aura 		phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		group 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease 0.300 None 1.000 1 0 2005 2005
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		ubiquitin protein ligase E3A 0.561 0.692 1.00
CUI: C2675336
Disease: Duplication 15q11-q13 Syndrome
Duplication 15q11-q13 Syndrome 		disease 0.300 None 1.000 1 0 2015 2015