Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO