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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02696 | Early-onset epilepsy | Early-onset epilepsy (EPEO) is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders ... | Nervous system disease |
(EPEO1) PLPBP [HSA:11212] [KO:K06997] (EPEO2) SETD1A [HSA:9739] [KO:K11422] (EPEO3) ATP6V0C [HSA:527] [KO:K02155] (EPEO4) ALDH7A1 [HSA:501] [KO:K14085] |
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| H02803 | Neurodevelopmental disorder with histone modification defect | Epigenetic regulatory mechanisms, including histone modification, play critical roles in cell differentiation and organ development through spatial and temporal gene regulation. Many neurodevelopmental ... | Congenital malformation |
(SHAPNS) ASXL2 [HSA:55252] [KO:K11471] (ODLURO) KMT2E [HSA:55904] [KO:K09189] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDDFAC) SUPT16H [HSA:11198] [KO:K25639] (NEDSID) SETD1A [HSA:9739] [KO:K11422] (NECRC) ZMYM2 [HSA:7750] [KO:K24675] (NEDFASB) KAT5 [HSA:10524] [KO:K11304] (NEDSST) KDM6B [HSA:23135] [KO:K11448] (NEDEHC) KDM5A [HSA:5927] [KO:K11446] (NEDDFL) BPTF [HSA:2186] [KO:K11728] |
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