ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
Disease: Coloboma of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.010 Biomarker disease BEFREE Array-based comparative genomic hybridization analysis showed that both siblings are homozygous for a 770-kb deletion on chr22q11.1 encompassing both IL17RA and cat eye critical region 1 (CECR1). 26607704 2016