ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Cat eye syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.030 GeneticVariation disease BEFREE The SALSA MLPA P250-B1 DiGeorge Probemix showed duplication of gene dosage in the CES region. aCGH showed a 1.26-Mb duplication at 22q11.1-q11.21 encompassing CECR1-CECR7. 23747353 2013
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.030 Biomarker disease BEFREE Absent from the mouse region of conserved synteny are CECR1, a promising CES candidate gene from the center of the contig, neighboring CECR4, and CECR7 and CECR8, which are located in the gene-poor proximal 400 kb of the contig. 11381032 2001
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		0.030 AlteredExpression disease BEFREE The location of this gene in the CES critical region and its embryonic expression suggest that the overexpression of CECR1 may be responsible for at least some features of CES, particularly the heart defects. 10756095 2000