Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Encephalopathy, ethylmalonic ETHE1 disease C1865349 AlteredExpression 1 orphanet , disgenet
Encephalopathy, ethylmalonic ETHE1 disease C1865349 Biomarker 1 orphanet , disgenet
Encephalopathy, ethylmalonic ETHE1 disease C1865349 CausalMutation 1 orphanet , disgenet
Encephalopathy, ethylmalonic ETHE1 disease C1865349 GermlineCausalMutation 1 orphanet , disgenet
Encephalopathy, ethylmalonic ETHE1 disease C1865349 GeneticVariation 1 orphanet , disgenet
Encephalopathy, ethylmalonic TNK2 disease C1865349 Biomarker 0.3 disgenet
Encephalopathy, ethylmalonic TRIM8 disease C1865349 Biomarker 0.3 disgenet
Encephalopathy, ethylmalonic ZNF575 disease C1865349 CausalMutation 0.1 disgenet
Encephalopathy, ethylmalonic ZNF575 disease C1865349 GeneticVariation 0.1 disgenet
Encephalopathy, ethylmalonic BDNF disease C1865349 AlteredExpression 0.02 disgenet
Encephalopathy, ethylmalonic TNF disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic ANXA5 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic ABCC2 disease C1865349 AlteredExpression 0.01 disgenet
Encephalopathy, ethylmalonic TYMP disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic MUC1 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic CALB2 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic MYB disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic TRPV1 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic GRM5 disease C1865349 AlteredExpression 0.01 disgenet
Encephalopathy, ethylmalonic ALDH3A2 disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic SOD2 disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic HBS1L disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic BECN1 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic OXR1 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic POSTN disease C1865349 AlteredExpression 0.01 disgenet
Encephalopathy, ethylmalonic BCL11A disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic IL6 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic DNM1 disease C1865349 GeneticVariation 0.01 disgenet
Encephalopathy, ethylmalonic BNIP3 disease C1865349 Biomarker 0.01 disgenet
Encephalopathy, ethylmalonic ABCB11 disease C1865349 AlteredExpression 0.01 disgenet
Encephalopathy, ethylmalonic ETFA disease C1865349 Biomarker 0.01 disgenet
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