Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.110 GeneticVariation disease BEFREE We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3). 19268652 2009
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.110 Biomarker disease HPO