Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01225 | D-2-hydroxyglutaric aciduria | ... dysmorphic features. It has been suggested that mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Recently, IDH2 mutations in patients with D-2-HGA were reported. | Inherited metabolic disorder |
(D2HGA1) D2HGDH [HSA:728294] [KO:K18204] (D2HGA2) IDH2 [HSA:3418] [KO:K00031] |
|
| H01892 | Peripheral T cell lymphoma | Peripheral T cell lymphomas (PTCLs) are a group of rare lymphomas originating from mature (i.e., post-thymic or "peripheral") T lymphocytes and NK cells. With regard to the current WHO classification, ... | Cancer |
NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] TET2 (mutation) [HSA:54790] [KO:K24309] DNMT3A (mutation) [HSA:1788] [KO:K17398] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] |
|
| H02410 | Myelodysplastic/myeloproliferative neoplasms | Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... | Cancer |
DNMT3A (mutation) [HSA:1788] [KO:K17398] TET2 (mutation) [HSA:54790] [KO:K24309] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031] ASXL1 (mutation) [HSA:171023] [KO:K11471] EZH2 (mutation) [HSA:2146] [KO:K11430] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CBL (mutation) [HSA:867] [KO:K04707] SETBP1 (mutation) [HSA:26040] [KO:K23217] CSF3R (mutation) [HSA:1441] [KO:K05061] PTPN11 (mutation) [HSA:5781] [KO:K07293] NF1 (mutation) [HSA:4763] [KO:K08052] SF3B1 (mutation) [HSA:23451] [KO:K12828] SRSF2 (mutation) [HSA:6427] [KO:K12891] U2AF1 (mutation) [HSA:7307] [KO:K12836] ZRSR2 (mutation) [HSA:8233] [KO:K24273] RUNX1 (mutation) [HSA:861] [KO:K08367] CEBPA (mutation) [HSA:1050] [KO:K09055] |
|
| H02412 | Atypical chronic myeloid leukemia | ... receptor (CSF3R), NRAS and KRAS. In addition to these mutations, other recurrent mutations in a variety of genes including NRAS, IDH2, and CBL have recently been described in aCML at lower frequencies. | Cancer |
SETBP1 (mutation) [HSA:26040] [KO:K23217] NRAS (mutation) [HSA:4893] [KO:K07828] KRAS (mutation) [HSA:3845] [KO:K07827] JAK2 (mutation) [HSA:3717] [KO:K04447] CSF3R (mutation) [HSA:1441] [KO:K05061] ASXL1 (mutation) [HSA:171023] [KO:K11471] ETNK1 (mutation) [HSA:55500] [KO:K00894] TET2 (mutation) [HSA:54790] [KO:K24309] SRSF2 (mutation) [HSA:6427] [KO:K12891] EZH2 (mutation) [HSA:2146] [KO:K11430] RUNX1 (mutation) [HSA:861] [KO:K08367] CBL (mutation) [HSA:867] [KO:K04707] FLT3 (mutation) [HSA:2322] [KO:K05092] CEBPA (mutation) [HSA:1050] [KO:K09055] IDH2 (mutation) [HSA:3418] [KO:K00031] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |