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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00042 | Glioma | ... oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating astrocytoma - glioblastoma multiforme ... | Cancer | hsa05214 Glioma |
(GLM1) IDH1 [HSA:3417] [KO:K00031] (GLM1) TP53 [HSA:7157] [KO:K04451] (GLM1) ERBB2 [HSA:2064] [KO:K05083] (GLM2) PTEN [HSA:5728] [KO:K01110] (GLM3) BRCA2 [HSA:675] [KO:K08775] (GLM9) POT1 [HSA:25913] [KO:K11109] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643] CDK4 (amplification) [HSA:1019] [KO:K02089] PDGFA (overexpression) [HSA:5154] [KO:K04359] PDGFB (overexpression) [HSA:5155] [KO:K17386] PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363] PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] |
| H00347 | Chlamydia infection | ... in men. Most of these infections are asymptomatic but, if not treated, can lead to non-gonococcal urethritis and post-gonococcal urethritis in men. Urethritis can be complicated by acute epididymitis. | Bacterial infectious disease | ||
| H00559 | von Hippel-Lindau syndrome | ... pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal cystadenoma, and endolymphatic sac tumors. Germline inactivation of VHL tumor suppressor protein ... | Congenital malformation |
VHL [HSA:7428] [KO:K03871] CCND1 [HSA:595] [KO:K04503] |
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| H00757 | Dyggve-Melchior-Clausen disease | Dyggve-Melchior-Clausen disease (DMC) is a rare autosomal recessive disorder characterized by the association of spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened ... | Congenital malformation | DYM [HSA:54808] [KO:K23951] | |
| H01301 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in ... | Nervous system disease | JAM3 [HSA:83700] [KO:K06785] | |
| H01692 | Subependymal giant cell astrocytoma | Subependymal giant cell astrocytoma (SEGA) is the most common central nervous system tumor in patients with tuberous sclerosis complex (TSC). Although these lesions are generally benign and non-infiltrative ... | Nervous system disease |
(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207] |
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| H02497 | Smith-McCort dysplasia | ... but with normal intelligence and no microcephaly. SMC has been shown to result from mutations in the DYM gene, which encodes the Golgi protein DYMECLIN. Recently, a missense mutation in RAB33B has been ... | Congenital malformation |
(SMC1) DYM [HSA:54808] [KO:K23951] (SMC2) RAB33B [HSA:83452] [KO:K07920] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |