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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02497 | Smith-McCort dysplasia | ... mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been identified in a SMC family. RAB33B is another Golgi protein involved in retrograde transport ... | Congenital malformation |
(SMC1) DYM [HSA:54808] [KO:K23951] (SMC2) RAB33B [HSA:83452] [KO:K07920] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |