ADAM9, ADAM metallopeptidase domain 9, 8754

N. diseases: 109; N. variants: 6
Disease: Cone-Rod Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.130 GeneticVariation disease BEFREE Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 25091951 2014
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.130 GeneticVariation disease BEFREE ADAM9 represents a strong candidate gene for canine retinal disease because mutations have previously been shown to cause autosomal recessively inherited human cone-rod dystrophy, a retinal disorder affecting photoreceptor function. 20691256 2010
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.130 Biomarker disease BEFREE Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 19409519 2009
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.130 Biomarker disease HPO
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies 		0.130 CausalMutation disease CLINVAR