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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00027 | Ovarian cancer | Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian ... | Cancer |
BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] MSH2 (germline mutation) [HSA:4436] [KO:K08735] MLH1 (germline mutation) [HSA:4292] [KO:K08734] ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] K-ras (mutation) [HSA:3845] [KO:K07827] AKT2 (amplification) [HSA:208] [KO:K04456] PIK3CA (amplification) [HSA:5290] [KO:K00922] c-MYC (overexpression) [HSA:4609] [KO:K04377] p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] CTNNB1 [HSA:1499] [KO:K02105] PRKN [HSA:5071] [KO:K04556] OPCML [HSA:4978] [KO:K06773] AKT1 [HSA:207] [KO:K04456] CDH1 [HSA:999] [KO:K05689] |
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| H00409 | Type 2 diabetes mellitus | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | Endocrine and metabolic disease | hsa04930 Type II diabetes mellitus |
IGF2BP2 [HSA:10644] [KO:K17392] CAPN10 [HSA:11132] [KO:K08579] SLC30A8 [HSA:169026] [KO:K14695] KCNJ11 [HSA:3767] [KO:K05004] MTNR1B [HSA:4544] [KO:K04286] ENPP1 [HSA:5167] [KO:K01513] PPARG [HSA:5468] [KO:K08530] HNF1B [HSA:6928] [KO:K08034] TCF7L2 [HSA:6934] [KO:K04491] WFS1 [HSA:7466] [KO:K14020] PAX4 [HSA:5078] [KO:K08032] HNF1B [HSA:6928] [KO:K08034] AKT2 [HSA:208] [KO:K04456] |
| H00420 | Familial partial lipodystrophy | ... by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have been identified in association with FPL. However, it is not yet known how these genes cause ... | Inherited metabolic disorder |
(FPLD2) LMNA [HSA:4000] [KO:K12641] (FPLD3) PPARG [HSA:5468] [KO:K08530] (FPLD4) PLIN1 [HSA:5346] [KO:K08768] (FPLD5) CIDEC [HSA:63924] [KO:K25878] (FPLD6) LIPE [HSA:3991] [KO:K07188] (FPLD7) CAV1 [HSA:857] [KO:K06278] (FPLD8) ADRA2A [HSA:150] [KO:K04138] (FPLD9) PLAAT3 [HSA:11145] [KO:K16817] (APLD) LMNB2 [HSA:84823] [KO:K07611] AKT2 [HSA:208] [KO:K04456] |
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| H01909 | Hypoinsulinemic hypoglycemia with hemihypertrophy | ... precursor proteins or insulin autoantibodies. There is no evidence of increased glucose clearance from the circulation. Patients have been found to carry a de novo mutation in the serine/threonine kinase AKT2. | Inherited metabolic disorder | AKT2 [HSA:208] [KO:K04456] |
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