Ethylmalonic encephalopathy

Disease Term Disease ID Gene Symbol Classification References Source
Ethylmalonic encephalopathy 51188, C1865349 ETHE1 Causal Pathogenic evidence from ClinVar 14732903, 16183799, 16828325, 18593870, 19136963, 23144459, 25198162, 26194623, 26917598, 27391121, 27604308, 29526615 ClinVar
TNK2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23686771 -
TRIM8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23934111 -
ZNF575 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 14732903, 16183799, 18593870, 19136963, 26917598, 29526615 -