Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		0.100 Biomarker phenotype HPO
CUI: C4476793
Disease: Abnormal cell morphology
Abnormal cell morphology 		0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4024751
Disease: Abnormality of the extraocular muscles
Abnormality of the extraocular muscles 		0.100 Biomarker phenotype HPO
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		0.100 Biomarker disease HPO
CUI: C4025647
Disease: Abnormality of the spinocerebellar tracts
Abnormality of the spinocerebellar tracts 		0.100 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.400 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.400 Biomarker phenotype CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 GeneticVariation group BEFREE To explore the p53R2's candidacy for a suppressor in gastric tumorigenesis, we examined the expression and mutation status of p53R2 in 166 gastric specimens including 90 primary adenocarcinomas and 15 cell lines. 11920641 2002
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.010 Biomarker disease BEFREE Univariate and multivariate analysis revealed that p53R2 is negatively related to the metastasis of colon adenocarcinoma samples (odds ratio, 0.23; P < 0.05); hRRM2 increases the risk of metastasis in colon cancer, but did not show significantly. 17311703 2007
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.010 GeneticVariation disease BEFREE We screened the p53R2 gene coding regions and a regulatory region which contains a p53 binding sequence in 100 patients with colorectal adenoma and 100 control subjects using PCR, cold SSCP, and direct DNA sequencing. 16127747 2005
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
Adult Myelodysplastic Syndrome 		0.010 AlteredExpression disease BEFREE To determine the clinical relevance of p53R2 induction, we measured p53R2 expression in bone marrow samples from 15 myelodysplastic syndrome/acute myelogenous leukemia (MDS/AML) patients undergoing decitabine therapy. p53R2 mRNA and protein were induced in 7 of 13 (54%) and 6 of 9 (67%) patients analyzed, respectively, despite a lack of methylation changes in the p53R2 promoter. 19010910 2008
CUI: C4511138
Disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 		0.300 GermlineCausalMutation phenotype ORPHANET Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. 23107649 2012
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer 		0.010 Biomarker disease BEFREE Gene aberrations of RRM1 and RRM2B and outcome of advanced breast cancer after treatment with docetaxel with or without gemcitabine. 24215511 2013
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		0.100 Biomarker disease HPO
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		0.100 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.100 Biomarker disease HPO
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria 		0.100 Biomarker phenotype HPO
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.100 Biomarker phenotype HPO