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Entry | Name | Description | Category | Pathway | Gene |
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H00152 | Sitosterolemia | Sitosterolemia is an autosomal recessive lipid disorder caused by mutation in the ABC transporter gene and characterized by elevated plasma levels of plant sterols due to increased intestinal absorption ... | Inherited metabolic disorder |
(STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] |
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H01213 | Gallbladder disease | ... deficiency in biliary phosphatidylcholine secretion is associated with gallstones. Recently, several common DNA polymorphisms in the ABCG8 gene were discovered that are associated with gallstone disease. | Digestive system disease |
(GBD1) ABCB4 [HSA:5244] [KO:K05659] (GBD4) ABCG8 [HSA:64241] [KO:K05684] |
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H01740 | Macrothrombocytopenia | Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... | Hematologic disease |
(MATINS) MYH9 [HSA:4627] [KO:K10352] (BSS) GP1BA [HSA:2811] [KO:K06261] (BSS) GP1BB [HSA:2812] [KO:K06262] (BSS) GP9 [HSA:2815] [KO:K06263] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] (MACTHC1) TUBB1 [HSA:81027] [KO:K07375] (MACTHC2) TUBA8 [HSA:51807] [KO:K07374] GATA1 [HSA:2623] [KO:K09182] VWF [HSA:7450] [KO:K03900] DIAPH1 [HSA:1729] [KO:K05740] |
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H02505 | Atherosclerosis | Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... | Cardiovascular disease | hsa05417 Lipid and atherosclerosis |
LDLR [HSA:3949] [KO:K12473] APOB [HSA:338] [KO:K14462] PCSK9 [HSA:255738] [KO:K13050] LDLRAP1 [HSA:26119] [KO:K12474] ABCG5 [HSA:64240] [KO:K05683] ABCG8 [HSA:64241] [KO:K05684] LCAT [HSA:3931] [KO:K00650] ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] MEF2A [HSA:4205] [KO:K09260] LRP6 [HSA:4040] [KO:K03068] |
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