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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
ATYPICAL GLYCINE ENCEPHALOPATHY SLC6A9 Causal ClinGen, ClinVar, Disgenet, GenCC, Orphanet
AMT Unknown Disgenet, GWAS catalog, Orphanet
GCSH Unknown CTD, Disgenet, Orphanet
GLDC Unknown Disgenet, Orphanet
GLYCINE ENCEPHALOPATHY
MONDO:0011612ORPHA407PS605899
AMT Causal — ClinGen, ClinVar, GenCC
GCSH Causal ClinGen, ClinVar, Disgenet
GLDC Causal — ClinGen, ClinVar, GenCC
GLYCINE ENCEPHALOPATHY 1 GLDC Causal CTD, ClinVar, HPO
GLYCINE ENCEPHALOPATHY 2 AMT Causal — ClinVar, Disgenet, GenCC, HPO
NICN1 Unknown — Disgenet —
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE AMT Unknown Disgenet, ClinGen
GCSH Unknown Disgenet
GLDC Unknown Disgenet, ClinGen
SLC6A9 Unknown — CTD, Disgenet, HPO
All5 Causal4 Unknown5