Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism. 27483465 2016
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. 21378381 2011
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 GeneticVariation disease UNIPROT Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. 19667227 2009
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 GeneticVariation disease UNIPROT Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. 18504129 2008
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease GENOMICS_ENGLAND Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 GeneticVariation disease UNIPROT Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 GeneticVariation disease CLINVAR
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 CausalMutation disease CLINVAR
CUI: C2749861
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) 		0.700 Biomarker disease CTD_human
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism. 27483465 2016
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Rhabdomyolysis: a genetic perspective. 25929793 2015
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		0.600 Biomarker disease CTD_human
CUI: C2751319
Disease: Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5 		0.600 CausalMutation disease CLINVAR
CUI: C3150172
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) 		0.400 Biomarker disease GENOMICS_ENGLAND Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism. 27483465 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.400 Biomarker group GENOMICS_ENGLAND Kearns-Sayre syndrome caused by defective R1/p53R2 assembly. 21378381 2011
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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.400 Biomarker phenotype CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.400 Biomarker group CTD_human A novel homozygous RRM2B missense mutation in association with severe mtDNA depletion. 19138848 2009
CUI: C0036572
Disease: Seizures
Seizures 		0.400 Biomarker phenotype GENOMICS_ENGLAND Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.400 Biomarker group CTD_human Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. 17486094 2007
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.400 Biomarker phenotype HPO