Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12 ×
Source: UNIPROT ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
CUI: C4746984
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
0.800 GeneticVariation UNIPROT X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. 17262856 2007