Disease Term Disease ID Gene Symbol Classification References Source
Atypical glycine encephalopathy 289863 AMT Causal Pathogenic evidence from ClinVar - ClinVar
SLC6A9 Causal Pathogenic evidence from ClinVar - ClinVar
GCSH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Infantile glycine encephalopathy 289860 AMT Causal Pathogenic evidence from ClinVar - ClinVar
SLC6A9 Causal Pathogenic evidence from ClinVar - ClinVar
GCSH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Neonatal glycine encephalopathy 289857 AMT Causal Pathogenic evidence from ClinVar - ClinVar
GCSH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLDC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -