RNR1, s-rRNA, 4549

N. diseases: 75; N. variants: 2
Disease: Mitochondrial DNA mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 GeneticVariation disease BEFREE Nevertheless, to achieve a complete audiological assessment of the father, he underwent further investigation that revealed an increased level of the coagulation factor XIII (300% increased activity), fluctuating levels of fibrin D-dimer degradation products (from 296 to 1,587 ng/ml) and a homoplasmic mitochondrial DNA mutation: T961G in the MTRNR1 (12S rRNA) gene. 23942271 2013