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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00772 | Paroxysmal extreme pain disorder | Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant pain disorder resulting from a set of gain-of-function mutations in SCN9A, the gene encoding Nav1.7, that impair inactivation of Nav1.7 ... | Nervous system disease | SCN9A [HSA:6335] [KO:K04841] | |
| H01119 | Prolidase deficiency | Prolidase deficiency (PD) is a severe autosomal recessive disorder due to the lack of prolidase (EC:3.4.13.9), a peptidase with a preference for Xaa-Pro dipeptide substrates that participates in collagen ... | Inherited metabolic disorder | PEPD [HSA:5184] [KO:K14213] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |