ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Congenital Heart Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 GeneticVariation group BEFREE Our study population consisted of all patients included in the PAN study (Prävalenz angeborener Herzfehler bei Neugeborenen in Deutschland), which was conducted prospectively over a 3-year study period by the Competence Network for Congenital Heart Defects. 29246335 2018
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		0.020 AlteredExpression group 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