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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00560 | Pseudoxanthoma elasticum | ... connective tissue affecting the skin, eyes 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 ... | 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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| H01002 | Generalized arterial calcification of infancy | Generalized arterial calcification of infancy (GACI) is a rare and often fatal genetic disorder, characterized by calcification of the internal elastic lamina, fibrotic myointimal proliferation of muscular ... | Cardiovascular disease |
(GACI1) ENPP1 [HSA:5167] [KO:K01513] (GACI2) ABCC6 [HSA:368] [KO:K05669] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |