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Entry | Name | Description | Category | Pathway | Gene |
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H00001 |
B-cell acute lymphoblastic leukemia B-cell acute lymphocytic leukemia |
... prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 ... | Cancer |
BCR-ABL (translocation) [HSA:25] [KO:K06619] MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184] E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355] TEL-AML1 (translocation) [HSA:861] [KO:K08367] c-MYC (rearrangement) [HSA:4609] [KO:K04377] CRLF2 (rearrangement) [HSA:64109] [KO:K05078] PAX5 (rearrangement) [HSA:5079] [KO:K09383] |
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H00003 | Acute myeloid leukemia | ... cells and accumulation in the bone marrow of blasts with an impaired differentiation program. AML accounts for approximately 80% of all adult leukemias and remains the most common cause of leukemia death ... | Cancer | hsa05221 Acute myeloid leukemia |
PML-RARalpha (translocation) [HSA:5371] [KO:K10054] AML1-ETO (translocation) [HSA:861] [KO:K08367] PLZF-RARalpha (translocation) [HSA:7704] [KO:K10055] FLT3 [HSA:2322] [KO:K05092] KIT [HSA:3815] [KO:K05091] NRAS [HSA:4893] [KO:K07828] KRAS [HSA:3845] [KO:K07827] AML1 [HSA:861] [KO:K08367] CEBPA [HSA:1050] [KO:K09055] CBFB [HSA:865] [KO:K25826] CHIC2 [HSA:26511] DNMT3A [HSA:1788] [KO:K17398] ETV6 [HSA:2120] [KO:K03211] GATA2 [HSA:2624] [KO:K17894] JAK2 [HSA:3717] [KO:K04447] LPP [HSA:4026] [KO:K16676] MLLT10 [HSA:8028] [KO:K23588] NPM1 [HSA:4869] [KO:K11276] NUP214 [HSA:8021] [KO:K14317] PICALM [HSA:8301] [KO:K20044] SH3GL1 [HSA:6455] [KO:K11247] TERT [HSA:7015] [KO:K11126] |
H00006 | Hairy cell leukemia | ... is defined, according to the WHO classification, as a mature (peripheral) B-cell neoplasm. HCL accounts for between 2-3% of all leukemia cases, with about 600 new cases diagnosed in the U.S. each year ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] Bcl-6 (mutation) [HSA:604] [KO:K15618] Cyclin D1 (overexpression) [HSA:595] [KO:K04503] |
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H00008 | Burkitt lymphoma | ... B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young adults in Africa and some other geographical areas and ... | Cancer |
MYC-IgH (translocation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621] |
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H00009 | Adult T-cell leukemia | ... p53, and deletion of p16 have been reported in ATL. Mutations of Fas gene are also reported in patients with ATL cells. However, such genetic changes were not frequently detected. In this regard, epigenetic ... | Cancer; Viral infectious disease | hsa05166 Human T-cell leukemia virus 1 infection |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621] Fas (mutation) [HSA:355] [KO:K04390] |
H00010 | Multiple myeloma | ... premalignant tumor called monoclonal gammopathy of undetermined significance (MGUS). Multiple oncogenic events have been identified that have contributed to the pathogenesis of myeloma. Among the earliest genetic ... | Cancer |
CCND1-IgH (translocation) [HSA:595] [KO:K04503] CCND3-IgH (translocation) [HSA:896] [KO:K10152] IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094] IgH-MMSET (translocation) [HSA:7468] [KO:K11424] IgH-MAF (translocation) [HSA:4094] [KO:K09035] N-ras (activating mutation) [HSA:4893] [KO:K07828] K-ras (activating mutation) [HSA:3845] [KO:K07827] c-MYC (dysregulation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00012 | Polycythemia vera | ... other rare disorders. Recently, a specific point mutation in the Janus kinase 2 (JAK2) gene was described in a majority of PV patients and thus constitutes a sensitive diagnostic marker for the disease. | Cancer | (PV) JAK2 [HSA:3717] [KO:K04447] | |
H00013 | Small cell lung cancer | ... industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced ... | Cancer | hsa05222 Small cell lung cancer |
MYC (amplification) [HSA:4609] [KO:K04377] BCL2 (overexpression) [HSA:596] [KO:K02161] FHIT [HSA:2272] [KO:K01522] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] PTEN [HSA:5728] [KO:K01110] PPP2R1B [HSA:5519] [KO:K03456] |
H00014 | Non-small cell lung cancer | ... cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous group of cancers, consisting ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
H00015 | Malignant pleural mesothelioma | ... (MPM) is the most common type, accounting for about 70% of all MM cases. Past asbestos exposure represents the major risk factor for MPM, as the link between asbestos fibres and MPM has been largely proved ... | Cancer |
p53 (inactivation) [HSA:7157] [KO:K04451] p16/CDKN2A (deletion) [HSA:1029] [KO:K06621] p15/CDKN2B (deletion) [HSA:1030] [KO:K04685] NF2 (mutation) [HSA:4771] [KO:K16684] PDGF-A (overexpression) [HSA:5154] [KO:K04359] PDGF-B (overexpression) [HSA:5155] [KO:K17386] IGF-1 (expression) [HSA:3479] [KO:K05459] IGF-R1 (expression) [HSA:3480] [KO:K05087] |
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H00016 | Oral cancer | ... Nevertheless, the term is synonymous to squamous cell carcinoma (SCC) of oral mucosal origin that accounts for more than 90% of all malignant presentations at the aforementioned anatomical sites. Worldwide ... | Cancer |
p53 (mutation, deletion) [HSA:7157] [KO:K04451] p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621] EGFR (overexpression) [HSA:1956] [KO:K04361] c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377] N-ras (amplification) [HSA:4893] [KO:K07828] K-ras (amplification) [HSA:3845] [KO:K07827] Cyclin D1 (amplification) [HSA:595] [KO:K04503] STAT-3 (expression) [HSA:6774] [KO:K04692] |
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H00017 | Esophageal cancer | Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC) ... | Cancer |
EGFR (overexpression) [HSA:1956] [KO:K04361] PTGS2 (overexpression) [HSA:5743] [KO:K11987] NOS2 (increased expression) [HSA:4843] [KO:K13241] FAS (increased expression) [HSA:355] [KO:K04390] CCND1 (amplification) [HSA:595] [KO:K04503] TP53 [HSA:7157] [KO:K04451] CDKN2A [HSA:1029] [KO:K06621] RB1 [HSA:5925] [KO:K06618] APC [HSA:324] [KO:K02085] DCC [HSA:1630] [KO:K06765] LZTS1 [HSA:11178] [KO:K26460] RNF6 [HSA:6049] [KO:K22753] TGFBR2 [HSA:7048] [KO:K04388] WWOX [HSA:51741] [KO:K19329] |
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H00021 | Renal cell carcinoma | Renal cell cancer (RCC) accounts for ~3% of human malignancies and its incidence appears to be rising. Although most cases of RCC seem to occur sporadically, an inherited predisposition to renal cancer ... | 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] |
H00022 | Bladder cancer | ... urothelial hyperplasia to low-grade non-invasive superficial papillary tumours. More aggressive variants arise either from flat, high-grade carcinoma in situ (CIS) and progress to invasive tumours, or they ... | Cancer | hsa05219 Bladder cancer |
H-ras (activating mutation) [HSA:3265] [KO:K02833] FGFR3 (activating mutation) [HSA:2261] [KO:K05094] p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621] p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451] RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618] EGFR (overexpression) [HSA:1956] [KO:K04361] ERBB2 (overexpression) [HSA:2064] [KO:K05083] RASSF1 (hypermethylation) [HSA:11186] [KO:K09850] DAPK1 (hypermethylation) [HSA:1612] [KO:K08803] |
H00023 | Testicular cancer | ... three different entities of TGCT can be distinguished: teratomas and yolk sac tumors of newborns and infants, seminomatous and nonseminomatous germ cell tumors of adolescents and young adults, and spermatocytic ... | Cancer |
CCND2 (amplification) [HSA:894] [KO:K10151] FGFR3 [HSA:2261] [KO:K05094] KIT [HSA:3815] [KO:K05091] STK11 [HSA:6794] [KO:K07298] |
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H00024 | Prostate cancer | ... (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and androgens (AR) as critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes ... | Cancer | hsa05215 Prostate cancer |
AR (amplification, mutation) [HSA:367] [KO:K08557] CDKN1B (allelic loss) [HSA:1027] [KO:K06624] NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348] PTEN (allelic loss) [HSA:5728] [KO:K01110] GSTP1 (hypermethylation) [HSA:2950] [KO:K23790] TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435] TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431] TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592] TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593] SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431] SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376] DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592] MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679] KLF6 (somatic mutation) [HSA:1316] [KO:K09207] MXI1 (somatic mutation) [HSA:4601] [KO:K09114] ZFHX3 (somatic mutation) [HSA:463] [KO:K09378] |
H00025 | Penile cancer | ... mutations of the p53 gene, over-expression of MDM2 and mutation of p14ARF. Several other molecular events include alterations in the activity and/or expression of ras and myc genes, cyclo-oxygenase-2 (COX) ... | Cancer |
p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621] BMI1 (overexpression) [HSA:648] [KO:K11459] p53 (mutation) [HSA:7157] [KO:K04451] MDM2 (overexpression) [HSA:4193] [KO:K06643] H-ras (mutation) [HSA:3265] [KO:K02833] c-MYC (mutation) [HSA:4609] [KO:K04377] E-Cadherin (expression) [HSA:999] [KO:K05689] MMP-2 (expression) [HSA:4313] [KO:K01398] MMP-9 (expression) [HSA:4318] [KO:K01403] COX-2 (expression) [HSA:5743] [KO:K11987] PTGES2 (expression) [HSA:80142] [KO:K05309] |
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H00029 | Vulvar cancer | ... with high-risk human papillomavirus (HPV) infection; the more frequent form develops in elderly patients, is not commonly associated with undifferentiated VIN but is frequently associated with differentiated ... | Cancer |
PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00031 | Breast cancer | ... PI3K/AKT and the RAS/RAF/MAPK pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch, Wnt/beta-catenin, and ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00032 | Thyroid cancer | Thyroid cancer is the most common endocrine malignancy and accounts for the majority of endocrine cancer- related deaths each year. More than 95% of thyroid carcinomas are derived from follicular cells ... | Cancer | hsa05216 Thyroid cancer |
RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290] TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290] PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530] KRAS [HSA:3845] [KO:K07827] HRAS [HSA:3265] [KO:K02833] NRAS [HSA:4893] [KO:K07828] BRAF [HSA:673] [KO:K04365] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] CDH1 [HSA:999] [KO:K05689] MINPP1 [HSA:9562] [KO:K03103] (NMTC1) NKX2-1 [HSA:7080] [KO:K09342] (NMTC2) SRGAP1 [HSA:57522] [KO:K07526] (NMTC4) FOXE1 [HSA:2304] [KO:K09398] (NMTC5) HABP2 [HSA:3026] [KO:K08648] |
H00033 | Adrenal carcinoma | ... per million people per year, accounting for 0.02% of all reported cancers. Unfortunately, most patients present with metastatic disease which reduces the 5 year survival rate to less than 10%. Oncogenes ... | Cancer |
ACTH-R (deletion) [HSA:4158] [KO:K04200] GNAI2 (mutation) [HSA:2771] [KO:K04630] N-ras (mutation) [HSA:4893] [KO:K07828] IGF II (overexpression) [HSA:3481] [KO:K13769] p53 (LOH, mutation) [HSA:7157] [KO:K04451] p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] |
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H00035 | Ewing sarcoma | ... sarcoma is the second most common malignant bone tumor occurring in children and young adults, and accounts for 10-15% of all primary bone tumors. The annual incidence is approximately 0.6/million total population ... | Cancer |
EWSR1-FLI1 (translocation) [HSA:2313] [KO:K09436] EWSR1-ERG (translocation) [HSA:2078] [KO:K09435] EWSR1-ETV1 (translocation) [HSA:2115] [KO:K09431] EWSR1-ETV4 (translocation) [HSA:2118] [KO:K15592] EWSR1-FEV (translocation) [HSA:54738] [KO:K09437] EWSR1 [HSA:2130] [KO:K13209] |
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H00037 | Rhabdomyosarcoma | Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be ... | Cancer |
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
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H00042 | Glioma | ... low-grade or anaplastic astrocytoma (secondary glioblastoma). Primary glioblastomas develop in older patients and typically show genetic alterations (EGFR amplification, p16/INK4a deletion, and PTEN mutations) ... | 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] |
H00043 | Neuroblastoma | ... near-triploid karyotypes with whole chromosome gains. These tumors rarely have structural rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely ... | Cancer |
MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
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H00044 | Cancer of the anal canal | Squamous cell carcinoma of the anal canal accounts for 1.5 per cent of all digestive system cancers in the USA, with an estimated 4,660 new cases and 660 deaths in 2006. Epidemiological and molecular-biology ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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H00047 | Gallbladder cancer | ... Although KRAS mutations are rarely detected in GBC associated with gallstones, they are frequent and early events in tumors associated with congenital abnormality of the pancreatic bile-duct junction. | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] K-ras (mutation) [HSA:3845] [KO:K07827] APC (mutation) [HSA:324] [KO:K02085] |
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H00049 | Myxoid liposarcoma | Liposarcoma(LS) represents the most common soft-tissue sarcoma of adults and occurs most often in the thigh and retroperitoneum. LSs are subclassified into well-differentiated, myxoid, round cell, and ... | Cancer |
FUS-DDIT3 (translocation) [HSA:1649] [KO:K04452] EWSR1-DDIT3 (translocation) [HSA:1649] [KO:K04452] |
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H00050 | Synovial sarcoma | ... reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints of the t(X; 18) have been cloned and shown to involve the fusion of the SYT gene at 18q11 to either ... | Cancer |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15625] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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H00053 | Extraskeletal myxoid chondrosarcoma | ... proximal extremities and limb girdles in middle-aged adults, and there is a predilection for male patients. Currently, a chromosomal translocation t(9;22)(q22;q12) and the resultant fusion gene, EWSR1-NR4A3 ... | Cancer |
EWSR1-NR4A3 (translocation) [HSA:8013] [KO:K08559] TAF15-NR4A3 (translocation) [HSA:8148] [KO:K14651] |
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H00055 | Laryngeal cancer | ... behavioral risk factors. Of all laryngeal cancers, some 95% are squamous cell carcinomas. Some molecular events have been described in laryngeal squamous cell carcinoma (LSCC). Although tumor suppressor inactivation ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621] Cyclin D1 (amplification) [HSA:595] [KO:K04503] EGFR (amplification) [HSA:1956] [KO:K04361] c-MYC (amplification) [HSA:4609] [KO:K04377] Cyclin E (amplification) [HSA:898 9134] [KO:K06626] |
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H00058 |
Amyotrophic lateral sclerosis (ALS) Lou Gehrig disease |
... characterized by a progressive degeneration of motor neurons in the brain and spinal cord. In 90% of patients, ALS is sporadic, with no clear genetic linkage. On the other hand, the remaining 10% of cases show ... | Neurodegenerative disease | hsa05014 Amyotrophic lateral sclerosis |
(ALS1) SOD1 [HSA:6647] [KO:K04565] (ALS1) NEFH [HSA:4744] [KO:K04574] (ALS1) PRPH [HSA:5630] [KO:K07607] (ALS1) DCTN1 [HSA:1639] [KO:K04648] (ALS2) ALS2 [HSA:57679] [KO:K04575] (ALS4) SETX [HSA:23064] [KO:K10706] (ALS5) SPG11 [HSA:80208] [KO:K19026] (ALS6) FUS [HSA:2521] [KO:K13098] (ALS8) VAPB [HSA:9217] [KO:K10707] (ALS9) ANG [HSA:283] [KO:K16631] (ALS10) TARDBP [HSA:23435] [KO:K23600] (ALS11) FIG4 [HSA:9896] [KO:K22913] (ALS12) OPTN [HSA:10133] [KO:K19946] (ALS15) UBQLN2 [HSA:29978] [KO:K04523] (ALS16) SIGMAR1 [HSA:10280] [KO:K20719] (ALS18) PFN1 [HSA:5216] [KO:K05759] (ALS19) ERBB4 [HSA:2066] [KO:K05085] (ALS20) HNRNPA1 [HSA:3178] [KO:K12741] (ALS21) MATR3 [HSA:9782] [KO:K13213] (ALS22) TUBA4A [HSA:7277] [KO:K07374] (ALS23) ANXA11 [HSA:311] [KO:K17095] (ALS24) NEK1 [HSA:4750] [KO:K08857] (ALS25) KIF5A [HSA:3798] [KO:K10396] (ALS26) TIA1 [HSA:7072] [KO:K13201] (ALS27) SPTLC1 [HSA:10558] [KO:K00654] (ALS28) LRP12 [HSA:29967] [KO:K20050] (ALSPDC) TRPM7 [HSA:54822] [KO:K04982] (ALSPDC) MAPT [HSA:4137] [KO:K04380] |
H00059 | Huntington disease | ... primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15 gene, which ... | Neurodegenerative disease | hsa05016 Huntington disease | (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533] |
H00060 | Dentatorubropallidoluysian atrophy (DRPLA) | ... The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally < 20 years) and cerebellar ataxia, choreoathetosis, and dementia ... | Neurodegenerative disease | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
H00063 | Spinocerebellar ataxia (SCA) | ... balance and motor coordination due to the primary dysfunction of the cerebellum. Compelling evidence points to major aetiological roles for transcriptional dysregulation, protein aggregation and clearance ... | Neurodegenerative disease | hsa05017 Spinocerebellar ataxia |
(SCA1) ATXN1 [HSA:6310] [KO:K23616] (SCA2) ATXN2 [HSA:6311] [KO:K23625] (SCA3) ATXN3 [HSA:4287] [KO:K11863] (SCA5) SPTBN2 [HSA:6712] [KO:K23932] (SCA6) CACNA1A [HSA:773] [KO:K04344] (SCA7) ATXN7 [HSA:6314] [KO:K11318] (SCA8) ATXN8OS [HSA:6315] [KO:K23933] (SCA10) ATXN10 [HSA:25814] [KO:K19323] (SCA11) TTBK2 [HSA:146057] [KO:K08815] (SCA12) PPP2R2B [HSA:5521] [KO:K04354] (SCA13) KCNC3 [HSA:3748] [KO:K04889] (SCA14) PRKCG [HSA:5582] [KO:K19663] (SCA15/29) ITPR1 [HSA:3708] [KO:K04958] (SCA17) TBP [HSA:6908] [KO:K03120] (SCA19/22) KCND3 [HSA:3752] [KO:K04893] (SCA21) TMEM240 [HSA:339453] [KO:K24870] (SCA23) PDYN [HSA:5173] [KO:K15840] (SCA26) EEF2 [HSA:1938] [KO:K03234] (SCA27A/27B) FGF14 [HSA:2259] [KO:K23920] (SCA28) AFG3L2 [HSA:10939] [KO:K08956] (SCA31) BEAN1 [HSA:146227] [KO:K19324] (SCA34) ELOVL4 [HSA:6785] [KO:K10249] (SCA35) TGM6 [HSA:343641] [KO:K05624] (SCA36) NOP56 [HSA:10528] [KO:K14564] (SCA37) DAB1 [HSA:1600] [KO:K20054] (SCA38) ELOVL5 [HSA:60481] [KO:K10244] (SCA40) CCDC88C [HSA:440193] [KO:K25811] (SCA41) TRPC3 [HSA:7222] [KO:K04966] (SCA42) CACNA1G [HSA:8913] [KO:K04854] (SCA43) MME [HSA:4311] [KO:K01389] (SCA44) GRM1 [HSA:2911] [KO:K04603] (SCA45) FAT2 [HSA:2196] [KO:K16506] (SCA46) PLD3 [HSA:23646] [KO:K16860] (SCA47) PUM1 [HSA:9698] [KO:K17943] (SCA48) STUB1 [HSA:10273] [KO:K09561] (SCA49) SAMD9L [HSA:219285] [KO:K23949] (SCA50) NPTX1 [HSA:4884] [KO:K25709] (SCA51) THAP11 [HSA:57215] [KO:K23211] |
H00064 |
Ataxia telangiectasia Louis-Bar syndrome Boder-Sedgwick syndrome |
... about 1 in 300 000. It is a progressive neurodegenerative disease associated with abnormal eye movements and cutaneous telangiectasia, immunodeficiency, and premature aging. The product of the causative ... | Immune system disease; Nervous system disease | (AT) ATM [HSA:472] [KO:K04728] | |
H00068 |
Leber hereditary optic atrophy Leber optic atrophy |
... or subacute bilateral optic atrophy that results in the loss of central vision. In most of the patients with LHON, visual dysfunction is the only manifestation of the disease. The incidence of LHON in ... | Nervous system disease |
ND1 [HSA:4535] [KO:K03878] ND2 [HSA:4536] [KO:K03879] ND4 [HSA:4538] [KO:K03881] ND4L [HSA:4539] [KO:K03882] ND5 [HSA:4540] [KO:K03883] ND6 [HSA:4541] [KO:K03884] CYTB [HSA:4519] [KO:K00412] COX1 [HSA:4512] [KO:K02256] COX3 [HSA:4514] [KO:K02262] ATP6 [HSA:4508] [KO:K02126] |
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H00074 | Canavan disease | ... sponginess of the brain. Two mutations account for about 98% of the alleles of Ashkenazi Jewish patients, in which population the disease is highly prevalent(E285A and Y231X in ASPA protein). Mutations ... | Inherited metabolic disorder | ASPA [HSA:443] [KO:K01437] | |
H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... symptoms first present in RD can be variable although most cases present in adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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H00077 |
Progressive supranuclear palsy Steele-Richardson-Olszewski syndrome |
... the family of tauopathies caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria ... | Neurodegenerative disease | (PSNP1) MAPT [HSA:4137] [KO:K04380] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |