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Entry | Name | Description | Category | Pathway | Gene |
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H00024 | Prostate cancer | ... critical determinants of the phenotype of prostate-cancer cells. Glutathione S-transferases (GSTP1) are detoxifying enzymes. Cells of prostatic intraepithelial neoplasia, devoid of GSTP1, undergo genomic damage ... | 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] |
H00048 |
Hepatocellular carcinoma Liver cancer |
... etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol or aflatoxin B1 exposure, genetic and epigenetic changes occur. The recurrent mutated genes were found to be ... | 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] |
H00063 | Spinocerebellar ataxia (SCA) | ... autophagy, the ubiquitin-proteasome system, alterations of calcium homeostasis, mitochondria defects, toxic RNA gain-of-function mechanisms and eventual cell death with apoptotic features of neurons during ... | 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] |
H00070 | Galactosemia | ... enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts. | Inherited metabolic disorder |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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H00079 | Asthma | ... from bone marrow progenitors is promoted by IL-5. The activation of eosinophils leads to release of toxic granules and oxygen free radicals that lead to tissue damage and promote the development of chronic ... | Immune system disease | hsa05310 Asthma |
IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT2) NPSR1 [HSA:387129] [KO:K08376] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
H00080 | Systemic lupus erythematosus | ... injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants ... | Immune system disease | hsa05322 Systemic lupus erythematosus |
(SLE) PTPN22 [HSA:26191] [KO:K18024] (SLE) FCGR2A [HSA:2212] [KO:K06472] (SLE) FCGR2B [HSA:2213] [KO:K12560] (SLE) CTLA4 [HSA:1493] [KO:K06538] (SLE) TREX1 [HSA:11277] [KO:K10790] (SLE) DNASE1 [HSA:1773] [KO:K11994] (SLEB1) TLR5 [HSA:7100] [KO:K10168] (SLEB2) PDCD1 [HSA:5133] [KO:K06744] (SLEB9) CR2 [HSA:1380] [KO:K04012] (SLEB10) IRF5 [HSA:3663] [KO:K09446] (SLEB11) STAT4 [HSA:6775] [KO:K11222] (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995] (SLEB17) TLR7 [HSA:51284] [KO:K05404] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] C2 [HSA:717] [KO:K01332] C4A [HSA:720] [KO:K03989] TNF [HSA:7124] [KO:K03156] FCGR3A [HSA:2214] [KO:K06463] FCGR3B [HSA:2215] [KO:K06463] CRP [HSA:1401] [KO:K16143] ZNF423 [HSA:23090] [KO:K22870] |
H00081 | Hashimoto thyroiditis | ... association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated ... | Immune system disease | CTLA4 [HSA:1493] [KO:K06538] | |
H00082 | Graves disease | ... association with AITD, but to date, only the human leucocyte region (HLA) on chromosome 6p21 and the cytotoxic T lymphocyte associated 4 (CTLA-4) gene on chromosome 2q33 have been consistently shown to be associated ... | Immune system disease | ||
H00083 | Allograft rejection | ... 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 recognize the graft MHC molecules ... | 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] |
H00084 | Graft-versus-host disease | ... (APCs) trigger the activation of donor-derived T cells, which induce further T-cell expansion, induce cytotoxic T lymphocytes (CTL) and natural killer (NK) cells responses and prime additional mononuclear phagocytes ... | Immune system disease | hsa05332 Graft-versus-host disease |
IL10 [HSA:3586] [KO:K05443] TNF [HSA:7124] [KO:K03156] IL1A [HSA:3552] [KO:K04383] IL1RN [HSA:3557] [KO:K05481] IFNG [HSA:3458] [KO:K04687] IL6 [HSA:3569] [KO:K05405] TGFB1 [HSA:7040] [KO:K13375] TGFB2 [HSA:7042] [KO:K13376] TGFB3 [HSA:7043] [KO:K13377] IL13 [HSA:3596] [KO:K05435] TNFRSF1B [HSA:7133] [KO:K05141] IL2 [HSA:3558] [KO:K05429] |
H00090 | NK cell defects | ... phagocytose organisms or cells coated with IgG in the absence of MHC (antibody-dependent cellular cytotoxicity). The mutation disrupts NK cell function and is associated with NK cytopenia. The patient also ... | Primary immunodeficiency | FCGR3A [HSA:2214] [KO:K06463] | |
H00098 | Chronic granulomatous disease | ... the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of ... | Primary immunodeficiency |
(CGDX) CYBB [HSA:1536] [KO:K21421] (CGD1) NCF1 [HSA:653361] [KO:K08011] (CGD3) NCF2 [HSA:4688] [KO:K08010] (CGD3) NCF4 [HSA:4689] [KO:K08012] (CGD4) CYBA [HSA:1535] [KO:K08009] (CGD5) CYBC1 [HSA:79415] [KO:K25863] |
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H00099 | Leukocyte adhesion deficiency | ... the cause of LAD-III. Dominant-negative mutations resulting in deficiency of ras-related C3 botulinum toxin substrate (Rac2), the predominant hematopoeitic-specific Rho GTPase in neutrophils also leads to ... | Primary immunodeficiency |
ITGB2 [HSA:3689] [KO:K06464] SLC35C1 [HSA:55343] [KO:K15279] FERMT3 [HSA:83706] [KO:K17084] RAC2 [HSA:5880] [KO:K07860] |
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H00109 | Familial hemophagocytic lymphohistiocytosis | ... hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the major immune cytotoxic protein, were detected with frequency between 15% and 50% of all FHPL patients. UNC13D is the second ... | Primary immunodeficiency |
(FHL2) PRF1 [HSA:5551] [KO:K07818] (FHL3) UNC13D [HSA:201294] [KO:K19728] (FHL4) STX11 [HSA:8676] [KO:K08487] (FHL5) STXBP2 [HSA:6813] [KO:K15300] (FHL6) RC3H1 [HSA:149041] [KO:K15690] |
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H00110 | Cholera | Cholera is an infection of the small intestine caused by toxigenic strains of Vibrio cholerae, mostly belonging to the O1 serogroup but also to the O139 serogroup. Seven cholera pandemics have occurred ... | Bacterial infectious disease | hsa05110 Vibrio cholerae infection | |
H00167 |
Phenylketonuria Hyperphenylalaninemia |
... metabolism marked by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH), leading to a toxic accumulation of phenylalanine in the blood and multiple tissues and potentially to intellectual ... | Inherited metabolic disorder |
(PKU) PAH [HSA:5053] [KO:K00500] (HPABH4A) PTS [HSA:5805] [KO:K01737] (HPABH4B) GCH1 [HSA:2643] [KO:K01495] (HPABH4C) QDPR [HSA:5860] [KO:K00357] (HPABH4D) PCBD1 [HSA:5092] [KO:K01724] (HPANBH4) DNAJC12 [HSA:56521] [KO:K09532] |
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H00175 | Propionic acidemia | Propionic acidaemia is caused by a deficiency of propionyl-CoA carboxylase which accumulates toxic compounds affecting brain metabolism. | Inherited metabolic disorder |
PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] |
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H00203 |
Acatalasemia Takahara disease |
... as ethanol, methanol, phenol and nitrites. Catalase has an important protective function against the toxic effects of peroxides generated in peroxisomes and removes them with high efficiency. The Japanese ... | Inherited metabolic disorder | CAT [HSA:847] [KO:K03781] | |
H00208 | Hyperbilirubinemia | ... hyperbilirubinemia caused by deficiency of bilirubin-UDP-glucuronosyltransferase which is involved in the detoxification of bilirubin by conjugation with glucuronic acid. Gilbert disease is a benign familial disorder ... | Inherited metabolic disorder |
(CN1, CN2) UGT1A1 [HSA:54658] [KO:K00699] (DJS) ABCC2 [HSA:1244] [KO:K05666] (RS) SLCO1B1 [HSA:10599] [KO:K05043] (RS) SLCO1B3 [HSA:28234] [KO:K05043] |
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H00210 |
Wilson disease Hepatolenticular degeneration |
... disorder caused by mutation of a P-type ATPase important for copper excretion into bile, leading to copper accumulation in the liver. Toxic concentration of copper affects brain and kidney as well as liver. | Inherited metabolic disorder | ATP7B [HSA:540] [KO:K17686] | |
H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | ... contact with contaminated water, animal feces or infected animals. EHEC is also referred to as verocytotoxin producing E. coli (VTEC) or Shiga toxin producing E. coli (STEC). The serotype O157:H7 is first ... | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection | |
H00278 | Enteropathogenic Escherichia coli (EPEC) infection | ... and EHEC [DS:H00277] strains are characterized by the type III secretion system and its cognate effectors encoded in the locus of enterocyte effacement (LEE), but EPEC does not release diffusible toxins. | Bacterial infectious disease | hsa05130 Pathogenic Escherichia coli infection | |
H00280 | Enterotoxigenic Escherichia coli (ETEC) infection | Enterotoxigenic Escherichia coli (ETEC) infection is one of the main causes of infantile diarrhea in developing countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize ... | Bacterial infectious disease | ||
H00295 | Viral myocarditis | ... common viral infections; less commonly, specific forms of myocarditis may result from other pathogens, toxic or hypersensitivity drug reactions, giant-cell myocarditis, or sarcoidosis. More than 20 common ... | Cardiovascular disease | hsa05416 Viral myocarditis | |
H00329 | Foodborne Bacillus cereus intoxication | ... gastrointestinal infections. The organism produces an emetic or diarrheal syndrome induced by an emetic toxin and enterotoxin, respectively. The emetic type infections are frequently associated with the consumption ... | Bacterial infectious disease | ||
H00333 | Streptococcal infection | ... over 600 million cases of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia ... | Bacterial infectious disease | ||
H00335 | Foodborne Clostridium perfringens intoxication | ... spore-forming, gram-positive, anaerobic bacterium consisting of five types (A-E), according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food ... | Bacterial infectious disease | ||
H00337 | Tetanus | Tetanus is a serious, often fatal intoxication caused by infection of Clostridium tetani, a gram-positive bacterium, through cuts or wounds. Mortality rate among untreated patients is high. Tetanus affects ... | Bacterial infectious disease | ||
H00339 | Botulism | Botulism is an acute neuroparalytic illness caused by a botulinum toxin produced by Clostridium botulinum, an anaerobic, gram-positive bacterium. Botulism occurs in four forms: foodborne, wound, infant ... | Bacterial infectious disease | ||
H00372 |
Smallpox Variola |
... disease caused by the variola virus, one of the Orthopoxviruses that causes skin eruption and marked toxemia. The disease was officially declared eradicated in 1979 following intensive vaccination campaigns | Viral infectious disease | ||
H00435 | Toxoplasmosis | Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected ... | Parasitic infectious disease | hsa05145 Toxoplasmosis | |
H00626 | Focal segmental glomerulosclerosis | ... etiologic associations, including genetic mutations in podocyte-associated proteins, viruses, and drug toxicities. For the initial treatment of FSGS, corticosteroid and immunosuppressive therapy is recommended | Urinary system disease |
(FSGS1) ACTN4 [HSA:81] [KO:K05699] (FSGS2) TRPC6 [HSA:7225] [KO:K04969] (FSGS3) CD2AP [HSA:23607] [KO:K13738] (FSGS4) APOL1 [HSA:8542] [KO:K23585] (FSGS5) INF2 [HSA:64423] [KO:K23958] (FSGS6) MYO1E [HSA:4643] [KO:K10356] (FSGS7) PAX2 [HSA:5076] [KO:K15608] (FSGS8) ANLN [HSA:54443] [KO:K18621] (FSGS9) CRB2 [HSA:286204] [KO:K16681] (FSGS10) LMX1B [HSA:4010] [KO:K09371] (FSGSNEDS) TRIM8 [HSA:81603] [KO:K12001] |
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H00747 | Thyrotoxic hypokalemic periodic paralysis | Thyrotoxic hypokalemic periodic paralysis (TPP) is characterized by thyrotoxicosis in combination with typical episodes of hypokalemic periodic paralysis (HypoPP). People of Asian descent are most often ... | Nervous system disease; Musculoskeletal disease | KCNJ18 [HSA:100134444] [KO:K05005] | |
H00923 |
Congenital systemic glutamine deficiency Glutamine synthetase deficiency |
... resulting in multi-organ failure and neonatal death. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. It has been reported ... | Inherited metabolic disorder | GLUL [HSA:2752] [KO:K01915] | |
H00964 | Poor metabolism of thiopurines | Poor metabolism of thiopurines (THPM) is inherited severe intolerance to thiopurine toxicity, caused by mutation in the TPMT gene. TPMT is part of a cascade of enzymes responsible for the metabolism of ... | Inherited metabolic disorder |
(THPM1) TPMT [HSA:7172] [KO:K00569] (THPM2) NUDT15 [HSA:55270] [KO:K03574] |
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H01032 | N-acetylglutamate synthase deficiency | N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The N-acetylglutamate is the absolutely required allosteric activator ... | Inherited metabolic disorder | NAGS [HSA:162417] [KO:K11067] | |
H01051 | Corynebacterium ulcerans infection | Human infections with toxigenic Corynebacterium ulcerans cause respiratory diphtheria-like illness. It can be fatal in unvaccinated patients and usually occur in adults, who consumed raw milk or had close ... | Bacterial infectious disease | ||
H01056 | Toxocariasis | Human toxocariasis is the disease caused by infection of zoonotic roundworms Toxocara canis and T. cati, whose definitive hosts are dogs and cats, respectively. Humans become infected by ingesting either ... | Parasitic infectious disease | ||
H01071 | Acute alcohol sensitivity | Aldehyde dehydrogenases (ALDHs) are important enzymes that eliminate toxic aldehydes by catalysing their oxidation to non-reactive acids. It is reported that a deficiency in the ALDH2 is associated with ... | Inherited metabolic disorder | ALDH2 [HSA:217] [KO:K00128] | |
H01103 | Alpha-1-antitrypsin deficiency | ... within the endoplasmic reticulum of hepatocytes. The accumulation of mutant A1AT protein has a directly toxic effect on the liver, resulting in hepatitis and cirrhosis. And the decrease in circulating A1AT ... | Inherited metabolic disorder | SERPINA1 [HSA:5265] [KO:K03984] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |