Mitochondrial neurogastrointestinal encephalomyopathy

Disease Term Disease ID Gene Symbol Classification References Source
Mitochondrial neurogastrointestinal encephalomyopathy 298 TYMP Causal Pathogenic evidence from ClinVar - ClinVar
POLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
RRM2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME C0872218 TYMP Causal Pathogenic evidence from ClinVar 21933806, 24816252 ClinVar
POLG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12825077 -
RRM2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19667227 -