Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		0.310 GermlineCausalMutation disease ORPHANET Our findings suggest that patients with MNGIE who have normal thymidine levels should be tested for RRM2B mutations. 19667227 2009
CUI: C0872218
Disease: MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME 		0.310 GeneticVariation disease BEFREE Our findings suggest that patients with MNGIE who have normal thymidine levels should be tested for RRM2B mutations. 19667227 2009