ADAM9, ADAM metallopeptidase domain 9, 8754

N. diseases: 109; N. variants: 6
Disease: CONE-ROD DYSTROPHY 9 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease GENOMICS_ENGLAND Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 25091951 2014
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease MGD Accelerated wound repair in ADAM-9 knockout animals. 20376065 2010
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease BEFREE Evaluation of genes in this region suggested A Disintegrin And Metalloprotease domain, family member 9 (ADAM9), identified concurrently elsewhere as the cause of human cone-rod dystrophy 9 (CORD9), as a strong positional candidate for canine crd3. 20806078 2010
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease MGD ADAM9 is involved in pathological retinal neovascularization. 19273593 2009
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease MGD Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 19409519 2009
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease MGD Mice lacking the metalloprotease-disintegrin MDC9 (ADAM9) have no evident major abnormalities during development or adult life. 11839819 2002
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 CausalMutation disease CLINVAR
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease GENOMICS_ENGLAND
CUI: C1423873
Disease: CONE-ROD DYSTROPHY 9
CONE-ROD DYSTROPHY 9 		0.810 Biomarker disease CTD_human