Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 GeneticVariation group BEFREE Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. 30909120 2019
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 CausalMutation group CLINVAR Decreased male reproductive success in association with mitochondrial dysfunction. 28812649 2017
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 Biomarker group BEFREE Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. 23107649 2012
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 Biomarker group BEFREE This review focuses on our current knowledge of genetic defects of mtDNA replication (POLG, POLG2, C10orf2) and nucleotide metabolism (TYMP, TK2, DGOUK, and RRM2B) that cause instability of mtDNA and mitochondrial disease. 22176657 2012
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 GeneticVariation group BEFREE Mutations in RRM2B encoding ribonucleotide reductase (RNR) p53R2 subunit usually cause paediatric-onset mitochondrial disease associated with mitochondrial DNA (mtDNA) depletion. 21378381 2011
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.150 GeneticVariation group LHGDN Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007