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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00017 | Esophageal cancer | ... alcohol and tobacco consumption, the most important risk factor for the development of EAC is duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations ... | 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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| H00018 | Gastric cancer | Gastric cancer (GC) is one of the world's most common cancers. According to Lauren's histological classification gastric cancer is divided into two distinct histological groups - the intestinal and diffuse ... | 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] |
| H00034 | Carcinoid | Carcinoid tumors 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 ... | Cancer |
MEN1 (mutation, LOH) [HSA:4221] [KO:K14970] SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237] |
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| H00095 | Ectodermal dysplasia and immunodeficiency | ... age of two months he suffered from multiple and severe infections with several Gram-positive and Gram-negative bacteria, leading to chronic bronchopneumonitis and gastroenteritis, with failure to thrive. | Immune system disease |
(EDAID1) IKBKG [HSA:8517] [KO:K07210] (EDAID2) NFKBIA [HSA:4792] [KO:K04734] |
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| H00218 | Cystic fibrosis | ... chronic pulmonary infection with Pseudomonas aeruginosa, respiratory distress, and pancreatic insufficiency. A part of patients with CF present with a gastrointestinal blockage known as meconium ileus. | Respiratory system disease |
CFTR [HSA:1080] [KO:K05031] TGFB1 [HSA:7040] [KO:K13375] FCGR2A [HSA:2212] [KO:K06472] |
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| H00247 |
Multiple endocrine neoplasia syndrome Wermer syndrome Sipple syndrome |
... and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid adenoma, gastrinoma, and pituitary adenoma. Gastrinomas are the most common type, leading to the Zollinger-Ellison ... | Cancer |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN2A MEN2B) RET [HSA:5979] [KO:K05126] (MEN4) CDKN1B [HSA:1027] [KO:K06624] |
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| H00286 | Crohn disease | ... to the terminal ileum. Most patients have involvement of the small intestine, but the other area of gastrointestinal tract may also be affected. In Western populations, over 50% of patients possess NOD2 ... | Immune system disease |
(IBD1) NOD2 [HSA:64127] [KO:K10165] (IBD1) IL6 [HSA:3569] [KO:K05405] (IBD10) ATG16L1 [HSA:55054] [KO:K17890] (IBD17) IL23R [HSA:149233] [KO:K05065] (IBD19) IRGM [HSA:345611] [KO:K14139] (IBD25) IL10RB [HSA:3588] [KO:K05135] (IBD28) IL10RA [HSA:3587] [KO:K05134] |
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| H00307 | Vibrio parahaemolyticus infection | ... well-recognized pathogen of both aquatic animals and humans. In the case of humans, it is often acquired through the consumption of raw or undercooked seafood, causing gastroenteritis with watery diarrhea. | Bacterial infectious disease | ||
| H00320 | Helicobacter pylori infection | Helicobacter pylori (HP) is a gram-negative pathogenic bacterium that specifically colonizes in the gastric epithelium and causes chronic gastritis, peptic ulcer disease, and/or gastric malignancies. Persistent ... | Bacterial infectious disease | hsa05120 Epithelial cell signaling in Helicobacter pylori infection | |
| H00321 |
Campylobacter infection Campylobacteriosis |
... disease most commonly caused by Campylobacter jejuni. Campylobacter is a commensal microorganism of the gastrointestinal tract of many wild animals, farm animals, and companion animals, and it is responsible ... | Bacterial infectious disease | ||
| H00328 | Anthrax | ... animals or animal products through three main routes: skin (cutaneous), lung (inhalation) and mouth (gastrointestinal). The disease is rare, but the potential threat of anthrax spores in bioterrorism is ... | Bacterial infectious disease | ||
| H00329 | Foodborne Bacillus cereus intoxication | Bacillus cereus is a gram-positive aerobic-to-facultatively anaerobic bacterium that causes gastrointestinal infections. The organism produces an emetic or diarrheal syndrome induced by an emetic toxin ... | Bacterial infectious disease | ||
| H00340 | Vancomycin-resistant enterococci infection | ... facultative bacteria with low intrinsic virulence that constitute the normal colonizing flora of the human gastrointestinal tract. Vancomycin-resistant enterococci (VRE) are among the most common antimicrobial-resistant ... | Bacterial infectious disease | ||
| H00352 | Whipple disease | ... present in the environment. The clinical features of WD are non-specific and histological lesions in gastrointestinal system can be the major manifestations. Patients without symptoms of gastrointestinal ... | Bacterial infectious disease | ||
| H00360 | Amoebiasis | Amoebiasis is a parasitic disease of gastrointestinal tract caused by Entamoeba histolytica (E. histolytica), an extracellular parasitic protozoan. People living in Central and South America and Africa ... | Parasitic infectious disease | hsa05146 Amoebiasis | |
| H00371 | Adenovirus infection | Adenoviruses (Ads) are recognized as etiologic agents of the respiratory and gastrointestinal tracts, eye, and kidney. Ads are rarely associated with severe clinical symptoms in healthy individuals. In ... | Viral infectious disease | ||
| H00510 | Feingold syndrome | ... found to harbour deletions of the MIR17HG gene. These individuals share many of the characteristics of FGLDS except for gastrointestinal atresia. The condition was termed Feingold syndrome type 2 (FGLDS2). | Congenital malformation |
(FGLDS1) MYCN [HSA:4613] [KO:K09109] (FGLDS2) MIR17HG [HSA:407975] |
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| H00533 |
Hereditary hemorrhagic telangiectasia Osler disease |
... Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal telangiectases. HHT is often associated with arteriovenous ... | Congenital malformation |
(HHT1) ENG [HSA:2022] [KO:K06526] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (HHT5) GDF2 [HSA:2658] [KO:K05503] (JPHT) SMAD4 [HSA:4089] [KO:K04501] |
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| H00577 | Symptomatic generalized epilepsies | ... consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy with myoclonic-astatic seizures, Early myoclonic encephalopathy ... | Nervous system disease |
(RMFSL) BRAT1 [HSA:221927] [KO:K23112] (EPILX) SYN1 [HSA:6853] [KO:K19941] (EPILX2) GABRA3 [HSA:2556] [KO:K05175] |
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| H00583 | Opitz-GBBB syndrome | ... the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome ... | Congenital malformation |
(GBBB1) MID1 [HSA:4281] [KO:K08285] (GBBB2) SPECC1L [HSA:23384] [KO:K23028] |
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| H00606 |
Early infantile epileptic encephalopathy Developmental and epileptic encephalopathy Ohtahara syndrome |
... electroencephalography (EEG). Many causes have been considered for EIEE. It has been reported that 75% of the cases subsequently evolve to West syndrome, and later a much smaller number progress to Lennox-Gastaut syndrome. | Nervous system disease |
(DEE1) ARX [HSA:170302] [KO:K09452] (DEE2) CDKL5 [HSA:6792] [KO:K08824] (DEE3) SLC25A22 [HSA:79751] [KO:K15107] (DEE4) STXBP1 [HSA:6812] [KO:K15292] (DEE5) SPTAN1 [HSA:6709] [KO:K06114] (DEE6B) SCN1A [HSA:6323] [KO:K04833] (DEE7) KCNQ2 [HSA:3785] [KO:K04927] (DEE8) ARHGEF9 [HSA:23229] [KO:K20686] (DEE9) PCDH19 [HSA:57526] [KO:K16499] (DEE10) PNKP [HSA:11284] [KO:K08073] (DEE11) SCN2A [HSA:6326] [KO:K04834] (DEE12) PLCB1 [HSA:23236] [KO:K05858] (DEE13) SCN8A [HSA:6334] [KO:K04840] (DEE14) KCNT1 [HSA:57582] [KO:K04946] (DEE15) ST3GAL3 [HSA:6487] [KO:K00781] (DEE16) TBC1D24 [HSA:57465] [KO:K21841] (DEE17) GNAO1 [HSA:2775] [KO:K04534] (DEE18) SZT2 [HSA:23334] [KO:K23298] (DEE19) GABRA1 [HSA:2554] [KO:K05175] (DEE21) NECAP1 [HSA:25977] [KO:K20069] (DEE22) SLC35A2 [HSA:7355] [KO:K15272] (DEE23) DOCK7 [HSA:85440] [KO:K21852] (DEE24) HCN1 [HSA:348980] [KO:K04954] (DEE25) SLC13A5 [HSA:284111] [KO:K14445] (DEE26) KCNB1 [HSA:3745] [KO:K04885] (DEE27) GRIN2B [HSA:2904] [KO:K05210] (DEE28) WWOX [HSA:51741] [KO:K19329] (DEE29) AARS [HSA:16] [KO:K01872] (DEE30) SIK1 [HSA:150094] [KO:K19008] (DEE31A/31B) DNM1 [HSA:1759] [KO:K01528] (DEE32) KCNA2 [HSA:3737] [KO:K04875] (DEE33) EEF1A2 [HSA:1917] [KO:K03231] (DEE34) SLC12A5 [HSA:57468] [KO:K23967] (DEE35) ITPA [HSA:3704] [KO:K01519] (DEE36) ALG13 [HSA:79868] [KO:K07432] (DEE37) FRRS1L [HSA:23732] [KO:K25381] (DEE38) ARV1 [HSA:64801] [KO:K21848] (DEE39) SLC25A12 [HSA:8604] [KO:K15105] (DEE40) GUF1 [HSA:60558] [KO:K21594] (DEE41) SLC1A2 [HSA:6506] [KO:K05613] (DEE42) CACNA1A [HSA:773] [KO:K04344] (DEE43) GABRB3 [HSA:2562] [KO:K05181] (DEE44) UBA5 [HSA:79876] [KO:K12164] (DEE45) GABRB1 [HSA:2560] [KO:K05181] (DEE46) GRIN2D [HSA:2906] [KO:K05212] (DEE47) FGF12 [HSA:2257] [KO:K22413] (DEE48) AP3B2 [HSA:8120] [KO:K12397] (DEE49) DENND5A [HSA:23258] [KO:K20164] (DEE50) CAD [HSA:790] [KO:K11540] (DEE51) MDH2 [HSA:4191] [KO:K00026] (DEE52) SCN1B [HSA:6324] [KO:K04845] (DEE53) SYNJ1 [HSA:8867] [KO:K20279] (DEE54) HNRNPU [HSA:3192] [KO:K12888] (DEE55) PIGP [HSA:51227] [KO:K03861] (DEE56) YWHAG [HSA:7532] [KO:K16198] (DEE57) KCNT2 [HSA:343450] [KO:K04947] (DEE58) NTRK2 [HSA:4915] [KO:K04360] (DEE59) GABBR2 [HSA:9568] [KO:K04615] (DEE60) CNPY3 [HSA:10695] [KO:K22816] (DEE61) ADAM22 [HSA:53616] [KO:K16068] (DEE62) SCN3A [HSA:6328] [KO:K04836] (DEE63) CPLX1 [HSA:10815] [KO:K15294] (DEE64) RHOBTB2 [HSA:23221] [KO:K07868] (DEE65) CYFIP2 [HSA:26999] [KO:K05749] (DEE66) PACS2 [HSA:23241] [KO:K23294] (DEE67) CUX2 [HSA:23316] [KO:K09313] (DEE68) TRAK1 [HSA:22906] [KO:K15369] (DEE69) CACNA1E [HSA:777] [KO:K04852] (DEE70) PHACTR1 [HSA:221692] [KO:K17594] (DEE71) GLS [HSA:2744] [KO:K01425] (DEE72) NEUROD2 [HSA:4761] [KO:K09078] (DEE73) RNF13 [HSA:11342] [KO:K15692] (DEE74) GABRG2 [HSA:2566] [KO:K05186] (DEE75) PARS2 [HSA:25973] [KO:K01881] (DEE76) ACTL6B [HSA:51412] [KO:K11652] (DEE77) PIGQ [HSA:9091] [KO:K03860] (DEE78) GABRA2 [HSA:2555] [KO:K05175] (DEE79) GABRA5 [HSA:2558] [KO:K05175] (DEE80) PIGB [HSA:9488] [KO:K05286] (DEE81) DMXL2 [HSA:23312] [KO:K24155] (DEE82) GOT2 [HSA:2806] [KO:K14455] (DEE83) UGP2 [HSA:7360] [KO:K00963] (DEE84) UGDH [HSA:7358] [KO:K00012] (DEE85) SMC1A [HSA:8243] [KO:K06636] (DEE86) DALRD3 [HSA:55152] [KO:K24973] (DEE87) CDK19 [HSA:23097] [KO:K02208] (DEE88) MDH1 [HSA:4190] [KO:K00025] (DEE89) GAD1 [HSA:2571] [KO:K01580] (DEE90) FGF13 [HSA:2258] [KO:K22413] (DEE91) PPP3CA [HSA:5530] [KO:K04348] (DEE92) GABRB2 [HSA:2561] [KO:K05181] (DEE93) ATP6V1A [HSA:523] [KO:K02145] (DEE94) CHD2 [HSA:1106] [KO:K20091] (DEE95) PIGS [HSA:94005] [KO:K05291] (DEE96) NSF [HSA:4905] [KO:K06027] (DEE97) CELF2 [HSA:10659] [KO:K13207] (DEE98) ATP1A2 [HSA:477] [KO:K01539] (DEE99) ATP1A3 [HSA:478] [KO:K01539] (DEE100) FBXO28 [HSA:23219] [KO:K10306] (DEE101) GRIN1 [HSA:2902] [KO:K05208] (DEE102) SLC38A3 [HSA:10991] [KO:K13576] (DEE103) KCNC2 [HSA:3747] [KO:K04888] (DEE104) ATP6V0A1 [HSA:535] [KO:K02154] (DEE105) HID1 [HSA:283987] (DEE106) UFSP2 [HSA:55325] [KO:K01376] (DEE107) NAPB [HSA:63908] [KO:K26120] (DEE108) MAST3 [HSA:23031] [KO:K08789] (DEE109) FZR1 [HSA:51343] [KO:K03364] (DEE110) CACNA2D1 [HSA:781] [KO:K04858] (DEE111) DEPDC5 [HSA:9681] [KO:K20404] (DEE112) KCNH5 [HSA:27133] [KO:K04908] (DEE113) SV2A [HSA:9900] [KO:K06258] (DEE114) SLC32A1 [HSA:140679] [KO:K15015] (DEE115) SNF8 [HSA:11267] [KO:K12188] (DEE116) GLUL [HSA:2752] [KO:K01915] |
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| H00631 | Cornelia de Lange syndrome | ... heterogeneous developmental disorder characterized by facial dysmorphia, upper limb defects, hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits ... | Congenital malformation |
(CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] (CDLS6) BRD4 [HSA:23476] [KO:K11722] |
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| H00666 | Peutz-Jeghers syndrome | ... (PJS) is an autosomal dominant condition in which multiple characteristic polyps occur throughout the gastrointestinal tract. Mucocutaneous pigmented lesions, especially of the vermilion border of the lips ... | Digestive system disease | STK11 [HSA:6794] [KO:K07298] | |
| H00904 |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities Urban-Rifkin-Davis syndrome |
Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities or Urban-Rifkin-Davis syndrome is a disorder affecting pulmonary, gastrointestinal, urinary, musculoskeletal, craniofacial ... | Congenital malformation | LTBP4 [HSA:8425] [KO:K08023] | |
| H00934 | Caudal duplication anomaly | ... duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with ... | Congenital malformation | AXIN1 (methylation at the promoter region) [HSA:8312] [KO:K02157] | |
| H00975 |
Rotaviral enteritis Rotaviral gastroenteritis |
Rotaviral enteritis is the main diarrheal disease in infants caused by rotavirus infection. Rotaviruses are members of the Reoviridae family and contain genomes consisting of eleven segments of double-stranded ... | Viral infectious disease | ||
| H01006 | Hereditary angioedema | ... genetic disorder, manifested by recurrent episodes of angioedema localized to the skin or mucosa of the gastrointestinal tract or larynx. The laryngeal angioedema is potentially lethal. The classic forms, ... | Cardiovascular disease |
(HAE1/2) SERPING1 [HSA:710] [KO:K04001] (HAE3) F12 [HSA:2161] [KO:K01328] (HAE4) PLG [HSA:5340] [KO:K01315] (HAE5) ANGPT1 [HSA:284] [KO:K05465] (HAE6) KNG1 [HSA:3827] [KO:K03898] (HAE7) MYOF [HSA:26509] [KO:K22125] (HAE8) HS3ST6 [HSA:64711] [KO:K09679] |
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| H01023 | Juvenile polyposis syndrome | ... condition identified by the presence of multiple benign, non-cancerous polyps called juvenile polyps in the gastrointestinal tract. A germline mutation in the SMAD4 or BMPR1A gene is found in about 50%-60% of ... | Neoplasm |
SMAD4 [HSA:4089] [KO:K04501] BMPR1A [HSA:657] [KO:K04673] |
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| H01045 | Schistosomiasis | ... Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead to chronic fibrotic response in host tissues, causing gastrointestinal and liver diseases. | Parasitic infectious disease | ||
| H01058 | Anisakiasis | Anisakiasis is an acute gastrointestinal disease caused by infection with the larval stages of herring worm (Anisakis spp.) or the cod worm (Pseudoterranova decipiens). Humans can be accidental hosts by ... | Parasitic infectious disease | ||
| H01070 | Vibrio furnissii infection | ... furnissii, first described as a gasproducing biovar of V. fluvialis, is associated with human acute gastroenteritis. The pathology of V. furnissii in gastroenteritis is potentially related to hemolysin ... | Bacterial infectious disease | ||
| H01074 | Aeromonas infection | ... aquatic environments. It can cause a wide spectrum of disease in humans as well as other animals, with gastroenteritis being the most common type of infection. Wound infections and septicaemia are the second ... | Bacterial infectious disease | ||
| H01089 | Dientamoebiasis | Dientamoeba fragilis is a trichomonad protozoan that belongs to the Parabasalia group. It is found worldwide in the gastrointestinal tract of humans and implicated as a cause of diarrhea. | Parasitic infectious disease | ||
| H01141 | Human monocytic ehrlichiosis | ... vertebrate species such as deer that serve as competent reservoirs for the bacterium and as sources of blood for tick vectors. Patients experience fever, malaise, low-back pain, or gastrointestinal symptoms. | Bacterial infectious disease | ||
| H01210 | Hypomagnesemia | ... magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution from extracellular to intracellular space. | Inherited metabolic disorder |
(HOMG1) TRPM6 [HSA:140803] [KO:K04981] (HOMG2) FXYD2 [HSA:486] [KO:K01538] (HOMG3) CLDN16 [HSA:10686] [KO:K06087] (HOMG4) EGF [HSA:1950] [KO:K04357] (HOMG5) CLDN19 [HSA:149461] [KO:K06087] (HOMG6/HOMGSMR1) CNNM2 [HSA:54805] [KO:K16302] (HOMG7) RRAGD [HSA:58528] [KO:K16186] (HOMGSMR2) ATP1A1 [HSA:476] [KO:K01539] |
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| H01276 |
Chronic idiopathic intestinal pseudo-obstruction CIIP |
... caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal motility. The typical clinical manifestation is characterized by recurrent episodes ... | Digestive system disease | FLNA [HSA:2316] [KO:K04437] | |
| H01323 | Enteritis due to Norovirus | Enteritis due to Norovirus is a major nonbacterial gastroenteritis worldwide. Norovirus is one of five genera of the family Caliciviridae of +ssRNA viruses. Human norovirus, previously known as Norwalk ... | Viral infectious disease | ||
| H01332 | Helicobacter heilmannii infection | Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats ... | Bacterial infectious disease | ||
| H01337 | Laribacter hongkongensis infection | ... of the beta-subclass of Proteobacteria. L. hongkongensis was isolated from the blood and empyema of a cirrhotic patient and associated with freshwater fish-borne gastroenteritis and traveler's diarrhea. | Bacterial infectious disease | ||
| H01359 | Anaphylaxis | ... response, usually immunoglobulin E-mediated, which leads to mast cell and basophil activation and a combination of dermatologic, respiratory, cardiovascular, gastrointestinal, and neurologic symptoms. | Immune system disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |