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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02024 | Neutrophil specific granule deficiency | ... transcription factor CCAAT/enhancer binding protein (CEBP) epsilon. Recently, loss-of-function mutations in SMARCD2 were identified from SGD patients. SMARCD2 is chromatin-remodeling factor, that interacts with ... | Primary immunodeficiency |
(SGD1) CEBPE [HSA:1053] [KO:K10051] (SGD2) SMARCD2 [HSA:6603] [KO:K11650] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |