Disease: Angelman Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.020 GeneticVariation disease BEFREE A maternal deletion at D15S986 was reported in a suspected case of AS; this marker is located in intron 2 of the ATP10C gene, which has been implicated in the development of AS. 25451953 2015
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.020 AlteredExpression disease BEFREE We report here that a novel maternally expressed gene, ATP10C, maps within the most common interval of deletion and that ATP10C expression is virtually absent from AS patients with imprinting mutations, as well as from patients with maternal deletions of 15q11-q13. 11326269 2001