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Entry | Name | Description | Category | Pathway | Gene |
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H00004 | Chronic myeloid leukemia | ... characterized by expansion of functionally normal myeloid cells, followed by an accelerated phase (AP) and finally a more aggressive blast phase (BP), with loss of terminal differentiation capacity. On the cellular ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
H00007 | Hodgkin lymphoma | ... Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of cases are classical HL, and 5% are nodular lymphocyte-predominant HL (NLPHL) ... | Cancer |
NFKBIA [HSA:4792] [KO:K04734] NFKBIE [HSA:4794] [KO:K05872] REL (amplification) [HSA:5966] [KO:K09254] FAS [HSA:355] [KO:K04390] KLHDC8B [HSA:200942] |
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H00008 | Burkitt lymphoma | ... point mutation in the p53 tumor suppressor gene or other defects in the p14ARF-MDM2-p53 pathway, and inactivation of the p16INK4a gene by promoter methylation or homozygous deletion. This indicates that ... | 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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H00012 | Polycythemia vera | Polycythemia vera (PV) is a clonal myeloproliferative disease characterized by an erythroid dominant trilineage proliferation of hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative ... | Cancer | (PV) JAK2 [HSA:3717] [KO:K04447] | |
H00013 | Small cell lung cancer | ... result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation. Mutation or deletion of p53 or PTEN can lead to more rapid proliferation and reduced ... | 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 | ... Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor genes, such as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within ... | 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 | ... deletions in most MMs suggests a multistep process of tumorigenesis, characterized by the loss and/or inactivation of multiple tumor suppressor genes (TSGs). Cytogenetic and loss of heterozygosity (LOH) ... | 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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H00018 | Gastric cancer | ... histological classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse types. Several genetic changes have been identified in intestinal-type GC. The intestinal ... | Cancer | hsa05226 Gastric cancer |
CDX2 (overexpression) [HSA:1045] [KO:K22234] TERT (overexpression) [HSA:7015] [KO:K11126] RARB (reduced expression) [HSA:5915] [KO:K08528] CDKN1B (reduced expression) [HSA:1027] [KO:K06624] TGFBR1 (reduced expression) [HSA:7046] [KO:K04674] ERBB2 (amplification) [HSA:2064] [KO:K05083] CCNE1 (amplification) [HSA:898] [KO:K06626] MET (amplification) [HSA:4233] [KO:K05099] FGFR2 (amplification) [HSA:2263] [KO:K05093] MLH1 (methylation) [HSA:4292] [KO:K08734] TP53 [HSA:7157] [KO:K04451] APC [HSA:324] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] KRAS [HSA:3845] [KO:K07827] NRAS [HSA:4893] [KO:K07828] CDH1 [HSA:999] [KO:K05689] MUTYH [HSA:4595] [KO:K03575] PIK3CA [HSA:5290] [KO:K00922] |
H00019 | Pancreatic cancer | ... precursors. The overexpression of HER-2/neu and activating point mutations in the K-ras gene occur early, inactivation of the p16 gene at an intermediate stage, and the inactivation of p53, SMAD4, and BRCA2 ... | Cancer | hsa05212 Pancreatic cancer |
KRAS [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] SMAD4 [HSA:4089] [KO:K04501] STK11 [HSA:6794] [KO:K07298] ERBB2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] (PNCA1) PALLD [HSA:23022] [KO:K22029] (PNCA2) BRCA2 [HSA:675] [KO:K08775] (PNCA3) PALB2 [HSA:79728] [KO:K10897] (PNCA4) BRCA1 [HSA:672] [KO:K10605] (PNCA5) RABL3 [HSA:285282] [KO:K07933] |
H00020 | Colorectal cancer | ... results from a series of genetic changes that involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability ... | Cancer | hsa05210 Colorectal cancer |
(HNPCC) MLH1 [HSA:4292] [KO:K08734] (HNPCC) MLH3 [HSA:27030] [KO:K08739] (HNPCC) MSH2 [HSA:4436] [KO:K08735] (HNPCC) MSH6 [HSA:2956] [KO:K08737] (HNPCC) TGFBR2 [HSA:7048] [KO:K04388] (FAP) APC [HSA:324] [KO:K02085] (FAP) MSH3 [HSA:4437] [KO:K08736] (PPAP) POLD1 [HSA:5424] [KO:K02327] (PPAP) POLE [HSA:5426] [KO:K02324] DCC [HSA:1630] [KO:K06765] KRAS [HSA:3845] [KO:K07827] GALNT12 [HSA:79695] [KO:K00710] SMAD7 [HSA:4092] [KO:K19631] SMAD4 [HSA:4089] [KO:K04501] SMAD2 [HSA:4087] [KO:K04500] BAX [HSA:581] [KO:K02159] AXIN2 [HSA:8313] [KO:K04385] BRAF [HSA:673] [KO:K04365] CCND1 [HSA:595] [KO:K04503] CHEK2 [HSA:11200] [KO:K06641] CTNNB1 [HSA:1499] [KO:K02105] FLCN [HSA:201163] [KO:K09594] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] BUB1 [HSA:699] [KO:K02178] BUB1B [HSA:701] [KO:K06637] AURKA [HSA:6790] [KO:K11481] EGF (overexpression) [HSA:1950] [KO:K04357] TGFA (overexpression) [HSA:7039] [KO:K08774] EREG (overexpression) [HSA:2069] [KO:K09784] AREG (overexpression) [HSA:374] [KO:K09782] |
H00022 | Bladder cancer | The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma ... | 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] |
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 ... | 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 | ... countries but more common in South America and East Africa. Squamous cell carcinoma (SCC) is the predominant tumor type in penile cancer, accounting for 95% of cases. Penile cancers are thought to arise from ... | 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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H00027 | Ovarian cancer | ... Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided ... | 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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H00031 | Breast cancer | ... cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland. The molecular subtypes of breast ... | 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] |
H00034 | Carcinoid | ... are relatively uncommon neoplasms that nonetheless comprise up to 85% of neuroendocrine gastrointestinal neoplasms. They most frequently occur in the midgut and develop from neuroendocrine cells that are ... | Cancer |
MEN1 (mutation, LOH) [HSA:4221] [KO:K14970] SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237] |
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H00037 | Rhabdomyosarcoma | ... although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS is divided into two major subtypes: embryonal (ERMS) and alveolar (ARMS) ... | 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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H00038 | Melanoma | ... preserved throughout tumor progression. Melanoma development has been shown to be strongly associated with inactivation of the p16INK4a/cyclin dependent kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) ... | Cancer | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
H00042 | Glioma | ... more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial ... | 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] |
H00045 | Pancreatic neuroendocrine tumor | ... A germline mutation in the MEN1 tumor suppressor gene causes MEN1, the above-mentioned autosomal dominant hereditary syndrome. Mutations of DAXX and ATRX are common and related to altered telomeres but ... | Cancer |
MEN1 [HSA:4221] [KO:K14970] DAXX [HSA:1616] [KO:K02308] ATRX [HSA:546] [KO:K10779] |
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H00046 | Cholangiocarcinoma | ... more aggressive phenotype in this cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and c-Met, as well as cyclo-oxygenase-2 (COX-2) activity in ... | Cancer |
K-ras (mutation) [HSA:3845] [KO:K07827] p53 (mutation) [HSA:7157] [KO:K04451] c-Met (overexpression) [HSA:4233] [KO:K05099] ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083] p16/INK4A (mutation) [HSA:1029] [KO:K06621] COX2 (overexpression) [HSA:5743] [KO:K11987] |
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H00047 | Gallbladder cancer | ... congenital abnormality of the pancreatic bile-duct junction, which is particularly common in Japan. TP53 inactivation has an important and early role in GBC associated with gallstones and chronic inflammation ... | 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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H00048 |
Hepatocellular carcinoma Liver cancer |
... cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1), the phosphatidylinositol-3 kinase (PI3K)/AKT/mammalian target of rapamycin (mTOR) pathway. Recent studies using whole-exome sequencing ... | Cancer | hsa05225 Hepatocellular carcinoma |
TGFA (overexpression) [HSA:7039] [KO:K08774] IGF2 (overexpression) [HSA:3481] [KO:K13769] IGF1R (overexpression) [HSA:3480] [KO:K05087] TERT (overexpression) [HSA:7015] [KO:K11126] FZD7 (overexpression) [HSA:8324] [KO:K02432] HGF (overexpression) [HSA:3082] [KO:K05460] MET (mutation, overexpression) [HSA:4233] [KO:K05099] MYC (amplification) [HSA:4609] [KO:K04377] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A (deletion) [HSA:1029] [KO:K06621] TGFBR2 (reduced expression) [HSA:7048] [KO:K04388] TP53 [HSA:7157] [KO:K04451] PTEN [HSA:5728] [KO:K01110] CTNNB1 [HSA:1499] [KO:K02105] AXIN1 [HSA:8312] [KO:K02157] KEAP1 [HSA:9817] [KO:K10456] NFE2L2 [HSA:4780] [KO:K05638] PIK3CA [HSA:5290] [KO:K00922] ARID1A [HSA:8289] [KO:K11653] ARID2 [HSA:196528] [KO:K11765] CASP8 [HSA:841] [KO:K04398] IGF2R [HSA:3482] [KO:K06564] |
H00052 | Clear cell sarcoma of soft tissue | ... t(12;22)(q13;q12). This translocation rearranges the ATF1 gene at 12q13 and the EWSR1 gene at 22q12, originating an EWSR1/ATF1 fusion gene. Given its specificity, this genetic aberration is considered pathognomonic ... | Cancer | EWSR1-ATF1 (translocation) [HSA:466] [KO:K09053] | |
H00054 | Nasopharyngeal cancer | ... the world, with an age-standardised annual incidence of less than 1 per 100000. However, in Southern China, parts of Southeast Asia and the Mediterranean basin, NPC is an endemic disease with an incidence ... | Cancer |
(NPCA3) MST1R [HSA:4486] [KO:K05100] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] CDKN2A (promoter hypermethylation) [HSA:1029] [KO:K06621] BCL2 (overexpression) [HSA:596] [KO:K02161] EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198] CADM1 (promoter hypermethylation) [HSA:23705] [KO:K06781] CDH1 (decreased expression) [HSA:999] [KO:K05689] |
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H00055 | Laryngeal cancer | ... molecular events have been described in laryngeal squamous cell carcinoma (LSCC). Although tumor suppressor inactivation of p53 and p16 is common in these tumors (about 50% each), oncogenic activation is less ... | 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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H00056 |
Alzheimer disease Dementia due to Alzheimer disease |
... organelle function. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin ... | Neurodegenerative disease | hsa05010 Alzheimer disease |
(AD1) APP [HSA:351] [KO:K04520] (AD2) APOE [HSA:348] [KO:K04524] (AD3) PSEN1 [HSA:5663] [KO:K04505] (AD4) PSEN2 [HSA:5664] [KO:K04522] (AD9) ABCA7 [HSA:10347] [KO:K05645] (AD18) ADAM10 [HSA:102] [KO:K06704] |
H00058 |
Amyotrophic lateral sclerosis (ALS) Lou Gehrig disease |
... neurodegenerative disorder 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 ... | 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 | Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes ... | Neurodegenerative disease | hsa05016 Huntington disease | (HD) HTT (CAG repeat expansion) [HSA:3064] [KO:K04533] |
H00060 | Dentatorubropallidoluysian atrophy (DRPLA) | ... Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive ... | Neurodegenerative disease | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
H00062 |
Spinal and bulbar muscular atrophy (SBMA) Kennedy disease |
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease ... | Neurodegenerative disease | (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557] | |
H00063 | Spinocerebellar ataxia (SCA) | The autosomal dominant spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative diseases characterised by loss of balance and motor coordination due to the primary dysfunction of the ... | 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] |
H00064 |
Ataxia telangiectasia Louis-Bar syndrome Boder-Sedgwick syndrome |
... premature aging. The product of the causative gene ATM is a 350 kDa protein of the phosphatidylinositol 3-kinase family that is involved in mitogenic signal transduction, intracellular protein transport, and ... | Immune system disease; Nervous system disease | (AT) ATM [HSA:472] [KO:K04728] | |
H00066 |
Lewy body dementia (LBD) Dementia with Lewy bodies (DLB) |
... factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB. | Neurodegenerative disease |
SNCA (mutation, triplication) [HSA:6622] [KO:K04528] SNCB (mutation) [HSA:6620] [KO:K24201] LRRK2 (mutation) [HSA:120892] [KO:K08844] GBA (mutation) [HSA:2629] [KO:K01201] |
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H00068 |
Leber hereditary optic atrophy Leber optic atrophy |
... mutation of mitochondrial DNA (mtDNA). It is primarily an ophthalmological disorder, presenting predominantly in young adult males and characterized by acute or subacute bilateral optic atrophy that results ... | 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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H00072 | Pyruvate dehydrogenase complex deficiency | ... dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3), and two regulatory subunits, E1 kinase and phospho-E1-phosphatase, together with a sixth component, E3-binding protein, which is believed ... | Inherited metabolic disorder |
(PDHAD) PDHA1 [HSA:5160] [KO:K00161] (PDHBD) PDHB [HSA:5162] [KO:K00162] (PDHDD) DLAT [HSA:1737] [KO:K00627] (PDHPD) PDP1 [HSA:54704] [KO:K01102] (PDHXD) PDHX [HSA:8050] [KO:K13997] (DLDD) DLD [HSA:1738] [KO:K00382] |
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H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... neuropathy, anosmia, deafness, cerebellar ataxia and elevated protein concentrations in the cerebrospinal fluid in the absence of an increased number of cells. The age at which symptoms first present in ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
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H00081 | Hashimoto thyroiditis | ... activity in various cells and tissues. AITDs are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches ... | Immune system disease | CTLA4 [HSA:1493] [KO:K06538] | |
H00082 | Graves disease | ... thyroid secretion. Thyroid autoimmune diseases are regarded as polygenic disorders resulting from the combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches ... | Immune system disease | ||
H00083 | Allograft rejection | ... cells in the context of self-MHC molecules - the indirect pathway. Such presentation activates predominantly CD4 T cells. A direct cytotoxic T-cell attack on graft cells can be made only by T cells that ... | Immune system disease | hsa05330 Allograft rejection |
TNF [HSA:7124] [KO:K03156] IL10 [HSA:3586] [KO:K05443] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IFNG [HSA:3458] [KO:K04687] HLA-DMA [HSA:3108] [KO:K06752] ICAM1 [HSA:3383] [KO:K06490] CTLA4 [HSA:1493] [KO:K06538] ACE [HSA:1636] [KO:K01283] ITGB3 [HSA:3690] [KO:K06493] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |