RNASEH1, ribonuclease H1, 246243

N. diseases: 52; N. variants: 7
Disease: Mitochondrial Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE In the same year, mutations in the RNASEH1 gene were linked to human mitochondrial diseases. 31178343 2019
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.020 GeneticVariation group BEFREE In cells with a pathological variant of ribonuclease H1 associated with mitochondrial disease, R-loops are of low abundance, and there is mitochondrial DNA aggregation. 27402764 2016