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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01572 | Cole-Carpenter syndrome | ... commonly classified as a separate OI-like disorder. CCS is caused by a specific de novo mutation in P4HB, the gene that encodes protein disulfide isomerase (PDI), that impairs the disulfide isomerase activity ... | Congenital malformation |
P4HB [HSA:5034] [KO:K09580] SEC24D [HSA:9871] [KO:K14007] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |