Disease: Optic Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.410 Biomarker disease CTD_human Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. 22842229 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.410 GeneticVariation disease BEFREE Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. 22842229 2012
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		0.410 Biomarker disease HPO