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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00534 | Cerebral cavernous malformation | ... as either sporadic or autosomal dominant conditions and is linked to three genes KRIT1, MGC4607, and PDCD10. Mutations in KRIT1 impair its interaction with ICAP-1 alpha, and influence beta 1 integrin-dependent ... | Congenital malformation |
(CCM1) KRIT1 [HSA:889] [KO:K17705] (CCM2) MGC4607 [HSA:83605] [KO:K26416] (CCM3) PDCD10 [HSA:11235] [KO:K18269] (CCM4) PIK3CA [HSA:5290] [KO:K00922] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |