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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
EPILEPTIC ENCEPHALOPATHY GABRD Unknown — Disgenet
IDUA Unknown — Disgenet
LIFR Unknown — Disgenet
MAPK10 Unknown — Disgenet
Endocrine resistance MAPK signaling pathway ErbB signaling pathway +74 more
MECP2 Unknown — Disgenet
PDHA1 Unknown — Disgenet
PGK1 Unknown — Disgenet
PRMT7 Unknown — Disgenet
PTEN Unknown — Disgenet
RS1 Unknown — Disgenet —
SLC26A1 Unknown — Disgenet
TRPM3 Unknown — Disgenet
UFSP2 Unknown — Disgenet —
WDR81 Unknown — Disgenet —
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 ALDH7A1 Unknown — Disgenet
CCNF Unknown — Disgenet
MAF Unknown — Disgenet
NRXN2 Unknown — Disgenet
REPS2 Unknown — Disgenet
SLC2A1 Unknown — Disgenet
SLC35A2 Unknown — Disgenet
TPTEP2-CSNK1E Unknown — Disgenet
UFSP2 Unknown — Disgenet —
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 MAF Unknown — Disgenet
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 LMX1B Unknown — Disgenet —
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY TMEM63B Unknown HPO —
MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY MAPK10 Unknown — Disgenet
Endocrine resistance MAPK signaling pathway ErbB signaling pathway +74 more
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY ATP1A3 Unknown Disgenet, Orphanet
ATP6V1A Unknown Disgenet, Orphanet
CACNA1B Unknown Disgenet, Orphanet
CLTC Unknown Disgenet, Orphanet
CNKSR2 Unknown Disgenet, Orphanet
DHDDS Unknown Disgenet, Orphanet
FBXO28 Unknown Disgenet, Orphanet —
FOXG1 Unknown Disgenet, Orphanet
FZR1 Unknown Disgenet, Orphanet
GABRB2 Unknown Disgenet, Orphanet
IQSEC2 Unknown — Disgenet
KYAT1-SPOUT1 Unknown — Disgenet —
LIMK1 Unknown — Disgenet
NUS1 Unknown Disgenet, Orphanet
PPP3CA Unknown Disgenet, Orphanet
RBFOX1 Unknown — Disgenet —
SLC38A3 Unknown Disgenet, Orphanet
SPOUT1 Unknown — Disgenet —
SRGAP2 Unknown — Disgenet
SYNGAP1 Unknown Orphanet
UFSP2 Unknown Orphanet —
SYNAPTIC RAS GTPASE ACTIVATING PROTEIN 1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY SYNGAP1 Unknown — Disgenet
SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY SYNGAP1 Unknown GWAS catalog, Orphanet
TMEM63B-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH ANEMIA TMEM63B Unknown ClinVar —
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY ATP6V1A Unknown GWAS catalog
CACNA1B Unknown Disgenet
CLTC Unknown GWAS catalog
CNKSR2 Unknown GWAS catalog
DHDDS Unknown GWAS catalog
GABRB2 Unknown GWAS catalog
NUS1 Unknown GWAS catalog
PPP3CA Unknown GWAS catalog, ClinGen
All220 Causal141 Unknown194