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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01572 | Cole-Carpenter syndrome | ... encodes protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity. Mutations in SEC24D, a gene encoding a component of the COPII complex machinery, have been reported to cause CCS as ... | Congenital malformation |
P4HB [HSA:5034] [KO:K09580] SEC24D [HSA:9871] [KO:K14007] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |