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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00011 | Lymphoplasmacytic lymphoma | Lymphoplasmacytic lymphoma (LPL)/Waldenstrom's macroglobulinemia (WM) is a non-Hodgkin lymphoma (NHL) subtype. LPL/WM is a neoplasm of small B-lymphocytes, plasmacytoid lymphocytes, and plasma cells, usually ... | Cancer | Pax5-IgH (translocation) [HSA:5079] [KO:K09383] | |
| H00153 | Familial combined hyperlipidemia | Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides ... | Inherited metabolic disorder |
(FCHL1) USF1 [HSA:7391] [KO:K09106] (FCHL3) LPL [HSA:4023] [KO:K01059] |
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| H00154 | Hyperlipoproteinemia, type I | Type I hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and ... | Inherited metabolic disorder |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] |
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| H00213 | Hypophosphatasia | Hypophosphatasia is an inherited disorder caused by deficiency of alkaline phosphatase activity and characterized by defective bone and teeth mineralization. The transmission of severe forms is autosomal ... | Inherited metabolic disorder | ALPL [HSA:249] [KO:K01077] | |
| H01635 | Hyperlipidemia | Dyslipidemia is a condition characterized by either an increase or decrease in concentration of lipids in the blood. Hyperlipidemia, which refers to an increase in cholesterol, triglyceride (TG), or both ... | Endocrine and metabolic disease |
(Hyperlipoproteinemia type 1) APOC2 [HSA:344] [KO:K22287] (Hyperlipoproteinemia type 1,2) LPL [HSA:4023] [KO:K01059] (Hyperlipoproteinemia type 2) LDLR [HSA:3949] [KO:K12473] (Hyperlipoproteinemia type 5) APOA5 [HSA:116519] [KO:K09025] |
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| H01784 | Primary hyperchylomicronemia | ... hypertriglyceridemia and is classically represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating ... | Inherited metabolic disorder |
LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025] |
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| H02513 | Oculopharyngodistal myopathy | Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and ... | Musculoskeletal disease |
(OPDM1) LRP12 [HSA:29967] [KO:K20050] (OPDM2) GIPC1 [HSA:10755] [KO:K20056] (OPDM3) NOTCH2NLC [HSA:100996717] [KO:K24466] (OPDM4) RILPL1 [HSA:353116] [KO:K20173] |
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