Disease: Luft Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0949496
Disease: Luft Disease
Luft Disease 		0.300 Biomarker disease CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
CUI: C0949496
Disease: Luft Disease
Luft Disease 		0.300 Biomarker disease CTD_human Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007