Disease: Congenital Amaurosis of Retinal Origin ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. 22842230 2012
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. 22842231 2012
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human NMNAT1 mutations cause Leber congenital amaurosis. 22842227 2012
CUI: C3540662
Disease: Congenital Amaurosis of Retinal Origin
Congenital Amaurosis of Retinal Origin 		0.300 Biomarker disease CTD_human Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. 22842229 2012