ADAM9, ADAM metallopeptidase domain 9, 8754

N. diseases: 109; N. variants: 6
Disease: Generalized progressive retinal atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0521691
Disease: Generalized progressive retinal atrophy
Generalized progressive retinal atrophy 		0.010 GeneticVariation disease BEFREE Hence, the identification of the genetic defect underlying gPRA in the GIT represents a suitable model for cone-rod dystrophy of humans, with superior potential to elucidate functional consequences of the recently described null mutations in the human ADAM9 gene. 20691256 2010