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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00560 | Pseudoxanthoma elasticum | ... and the arterial blood vessels. The mutated gene is identified as ABCC6, an ATP-binding cassette transporter. Recently, mutations in the GGCX gene in a family with PXE-like phenotypes have been reported. | Congenital malformation |
(PXE) ABCC6 [HSA:368] [KO:K05669] (PXE) XYLT1 [HSA:64131] [KO:K00771] (PXE) XYLT2 [HSA:64132] [KO:K00771] (PXE-like) GGCX [HSA:2677] [KO:K10106] |
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| H00995 | Combined deficiency of vitamin K-dependent clotting factors | ... subtypes have been identified, deriving from mutations of two enzymes of the vitamin K cycle. VKCFD type1 is defined by defective GGCX activity, while VKCFD type 2 derives from functional deficiency of VKORC. | Cardiovascular disease |
(VKCFD1) GGCX [HSA:2677] [KO:K10106] (VKCFD2) VKORC1 [HSA:79001] [KO:K05357] |
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| H01205 |
Coumarin resistance Warfarin resistance |
... gender, and genetic factors. Warfarin acts through interference with the recycling of vitamin K in the liver. It has been reported that mutations in VKORC1, CYP2C9, and GGCX cause warfarin resistance. | Inherited metabolic disorder |
VKORC1 [HSA:79001] [KO:K05357] CYP2A6 [HSA:1548] [KO:K17683] CYP2C9 [HSA:1559] [KO:K17719] GGCX [HSA:2677] [KO:K10106] |
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