Disease: Angelman Syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation UNIPROT Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. 27467454 2016
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation UNIPROT Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. 25782669 2015
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation UNIPROT Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation CLINVAR Mutation Update for UBE3A variants in Angelman syndrome. 25212744 2014
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
0.800 GeneticVariation UNIPROT Mutation analysis of UBE3A in Angelman syndrome patients. 9585605 1998