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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00221 | Combined deficiency of factors V and VIII | Combined deficiency of factors V and VIII (F5F8D) is caused by mutations in LMAN1 or MCFD2, which form a complex working as a cargo receptor for transport of coagulation factors V and VIII from ER to Golgi | Hematologic disease |
LMAN1 [HSA:3998] [KO:K10080] MCFD2 [HSA:90411] [KO:K20364] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |