Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
Visceral myopathy familial external ophthalmoplegia
0.300 Biomarker disease CTD_human Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 19667227 2009
CUI: C4553764
Disease: Ventricular Arrhythmia, CTCAE 5.0
Ventricular Arrhythmia, CTCAE 5.0
0.100 Biomarker phenotype HPO
CUI: C1883529
Disease: Ventricular Arrhythmia, CTCAE 3.0
Ventricular Arrhythmia, CTCAE 3.0
0.100 Biomarker phenotype HPO
Ventricular Arrhythmia by ECG Finding
0.100 Biomarker phenotype HPO
CUI: C0085612
Disease: Ventricular arrhythmia
Ventricular arrhythmia
0.100 Biomarker disease HPO
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma
0.010 GeneticVariation disease BEFREE Infrequent alteration in the p53R2 gene in human transitional cell carcinoma of the urinary tract. 14707445 2004
CUI: C0751330
Disease: Unilateral Hypotonia
Unilateral Hypotonia
0.300 Biomarker phenotype CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 Biomarker disease BEFREE Therefore, it was concluded that the p53-p53R2-dependent DNA repair system is constitutively stimulated by butyric acid, which accumulates in UC inflammatory lesions. 16206288 2006
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 Biomarker phenotype BEFREE In this article, we present a viable hypothesis about the roles of p53R2 in cancer progression and therapy resistance based on the roles of cytoplasmic p21 and mutant p53. 24486301 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 Biomarker phenotype BEFREE RRM2B's relation to MPTP is not well known, and the role of RRM2B in cancer progression is controversial. 30662615 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 Biomarker phenotype BEFREE This study provides the first time evidence that RRM2B is transcriptionally and functionally regulated independent of p53 pathway by FOXO3, and it establishes that FOXO3 and RRM2B could be used as predictive biomarkers for cancer progression. 24947616 2014
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 Biomarker phenotype BEFREE Deregulation of the expression of p53R2, a p53-inducible homologue of the R2 subunit of ribonucleotide reductase, has been found in various human cancer tissues; however, the roles p53R2 plays in cancer progression and malignancy remain controversial. 21216934 2011
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 AlteredExpression phenotype BEFREE p53R2 overexpression in cervical cancer promotes AKT signaling and EMT, and is correlated with tumor progression, metastasis and poor prognosis. 28841361 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.060 Biomarker phenotype BEFREE In this review article, we will discuss the situation in which cancer cells with hyperactive PI3K/Akt signaling can recruit p53R2 in favor of cancer progression and resistance to therapy. 25086499 2014
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE In the validation set, RRM2B was negatively related to tumor invasion (OR = 0.45, 95% CI = 0.19-0.99, P = 0.040) and lymph node involvement (OR = 0.48, 95% CI = 0.25-0.92, P = 0.026). 21415168 2011
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 AlteredExpression phenotype BEFREE Positive p53R2 expression was significantly correlated with depth of invasion, lymph node metastasis, stage, and poor prognosis. 16778101 2006
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE Thus, opposing regulation of hRRM2 and p53R2 in invasion potential might play a critical role in determining the invasion and metastasis phenotype in cancer cells. 17311703 2007
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE The expression of p53R2 was significantly correlated with the depth of invasion and the tumor stage. p53R2-targeting siRNA successfully knocked down p53R2 and significantly inhibited the growth of KHm5 and 6 cells. 22902076 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.050 Biomarker phenotype BEFREE We further show that p53R2 is important for oncogenic growth, migration and invasion in cervical cancer cells. 28841361 2017
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
0.010 GeneticVariation disease BEFREE The explanted livers of the patients with heterozygous, truncating insertion mutations in RRM2B showed patchy micro- and macrovesicular steatosis, decreased mitochondrial DNA (mtDNA) content <30% of controls, and reduced respiratory chain complex activity; both patients had good post-transplant outcome. 27483465 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
0.300 Biomarker disease GENOMICS_ENGLAND Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007
CUI: C0280232
Disease: stage, cervical cancer
stage, cervical cancer
0.010 AlteredExpression phenotype BEFREE In this study, we investigated the expression and clinical significance of p53R2 in early-stage cervical cancer. p53R2 expression is significantly upregulated at both mRNA and protein levels in cervical cancer cells and tissues, compared with that in matched normal cervical cells and tissues, respectively. p53R2 overexpression is associated with increased risk of pelvic lymph node metastasis (PLNM, p = 0.001) and cancer relapse (p = 0.009). 28841361 2017
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation disease BEFREE In the study, real-time PCR was used to detect hRRM1 (rs12806698 C/A) and p53R2 (rs2290707 G/T) gene polymorphisms in Turkish HNSCC patients and healthy individuals. 24861915 2014
Squamous cell carcinoma of esophagus
0.040 Biomarker disease BEFREE The DNA repair markers, p53R2 or ERCC1, angiogenic molecule (VEGF), and hedgehog signaling pathway factor Gli-1 also have potential to predict the response and prognosis of ESCC. 23605218 2014