Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.040 GeneticVariation disease BEFREE The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency. 31462754 2020
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.040 Biomarker disease BEFREE This report expands our knowledge of potential pathogenic RRM2B mutations as well as our understanding of the molecular function of p53R2 and its role in the pathogenesis of mitochondrial DNA depletion. 30439532 2019
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.040 GeneticVariation disease BEFREE Novel RRM2B Mutation and Severe Mitochondrial DNA Depletion: Report of 2 Cases and Review of the Literature. 28482374 2017
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.040 GeneticVariation disease BEFREE Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007