SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: Depletion of mitochondrial DNA ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.010 GeneticVariation disease BEFREE Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. 12391347 2002