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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00021 | Renal cell carcinoma | ... collecting duct RCC (<1%). Genes potentially involved in sporadic neoplasms of each particular type are VHL, MET, BHD, and FH respectively. In the absence of VHL, hypoxia-inducible factor alpha (HIF-alpha) ... | Cancer | hsa05211 Renal cell carcinoma |
PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105] VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871] MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099] FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679] FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594] HNF1A [HSA:6927] [KO:K08036] OGG1 [HSA:4968] [KO:K03660] PBRM1 [HSA:55193] [KO:K11757] |
| H00045 | Pancreatic neuroendocrine tumor | ... association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent genetic alterations ... | Cancer |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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| H00236 |
Congenital polycythemia Familial erythrocytosis (ECYT) |
Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia ... | Hematologic disease |
(ECYT1) EPOR [HSA:2057] [KO:K05079] (ECYT1) JAK2 [HSA:3717] [KO:K04447] (ECYT1) SH2B3 [HSA:10019] [KO:K12459] (ECYT2) VHL [HSA:7428] [KO:K03871] (ECYT3) EGLN1 [HSA:54583] [KO:K09592] (ECYT4) EPAS1 [HSA:2034] [KO:K09095] (ECYT5) EPO [HSA:2056] [KO:K05437] (ECYT6) HBB [HSA:3043] [KO:K13823] (ECYT7) HBA1/2 [HSA:3039 3040] [KO:K13822] (ECYT8) BPGM [HSA:669] [KO:K01837] |
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| H00559 | von Hippel-Lindau syndrome | ... phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor protein leads to the upregulation of HIF and promotes to carcinogenesis. | Congenital malformation |
VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
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| H01510 |
Malignant paraganglioma Pheochromocytoma |
... divided in two main clusters linked to two different signalling pathways: the first cluster contains all VHL-, SDHx-, and FH- mutated tumors and is associated to the activation of hypoxic pathway, while the ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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