Developmental and epileptic encephalopathy
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 | |||
| 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 | ||
| 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 |