CDA, cytidine deaminase, 978

N. diseases: 103; N. variants: 9
Disease: Avellino corneal dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.010 GeneticVariation disease BEFREE This patient was homozygous for both the 79A>C and the -31delC polymorphisms on the CDA gene and promoter, two genotypes with reported opposite effects on CDA phenotype. 22379997 2012