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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00308 | Vibrio vulnificus infection | ... in warm coastal waters. It causes two distinct syndromes: a primary septicemia related to seafood consumption and a necrotizing wound infection acquired by exposing open wounds to contaminated seawater. | Bacterial infectious disease | ||
| H00309 | Multidrug-resistant Acinetobacter infection | ... as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to almost all commercially ... | Bacterial infectious disease | ||
| H00311 |
Legionellosis Legionnaires disease |
... potable water systems that become colonized by the microorganism, transmitted by inhalation of contaminated aerosols and aspiration. Classically, it can cause two different forms of disease in humans: LD ... | Bacterial infectious disease | hsa05134 Legionellosis | TLR5 [HSA:7100] [KO:K10168] |
| H00313 | Multidrug-resistant Pseudomonas aeruginosa infection | ... outer-membrane) or following acquisition of resistance genes (e.g., genes for beta-lactamases, or enzymes inactivating aminoglycosides or modifying their target), over-expression of efflux pumps, decreased expression ... | Bacterial infectious disease | ||
| H00316 | Glanders | ... usually an occupational disease, affecting individuals in contact with infected animals such as veterinarians, grooms, and farmers. The causative agent of glanders is Burkholderia mallei, a gram-negative ... | Bacterial infectious disease | ||
| H00317 | Melioidosis | ... an infection caused by the gram-negative soil-dwelling bacillus Burkholderia pseudomallei. It predominantly affects people in regular contact with soil and water and is endemic in areas of Southeast Asia ... | Bacterial infectious disease | TLR5 (resistance) [HSA:7100] [KO:K10168] | |
| H00319 |
Pertussis Whooping cough |
... Bordetella pertussis, is a highly contagious, acute respiratory disease of humans. Despite high vaccination rates, this illness has re-emerged worldwide, causing approximately 300 000 deaths each year ... | Bacterial infectious disease | hsa05133 Pertussis | |
| H00320 | Helicobacter pylori infection | ... in developing countries. Although HP may sometimes be eradicated by antibiotics given for other infections, infection usually persists life-long unless specific combination antibiotic therapy is taken. | Bacterial infectious disease | hsa05120 Epithelial cell signaling in Helicobacter pylori infection | |
| H00321 |
Campylobacter infection Campylobacteriosis |
... 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 for zoonoses ... | Bacterial infectious disease | ||
| H00324 | Scrub typhus | ... that is transmitted by the Leptotrombidium species mite. The disease is confined to East Asia and characterized by fever, rash, eschar, pneumonitis, meningitis, and disseminated intravascular coagulation. | Bacterial infectious disease | ||
| H00325 | Brucellosis | ... human in Latin America, the Middle East, Spain, parts of Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection ... | Bacterial infectious disease | ||
| H00328 | Anthrax | ... 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 widely recognized | 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 and ... | Bacterial infectious disease | ||
| H00330 | Methicillin-resistant Staphylococcal aureus (MRSA) infection | ... which have become endemic in the hospital environment, particularly in intensive care units (ICUs). Originally limited to the hospital setting, MRSA is a growing cause of infections in the community. Community-associated ... | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H00331 | Vancomycin-resistant Staphylococcal aureus (VRSA) infection | ... penetration, such as joint spaces and the central nervous system. A gene known as vanA is a major determinant, which is transferable and can be acquired by sensitive bacteria from resistant organisms. | Bacterial infectious disease | hsa05150 Staphylococcus aureus infection | |
| H00339 | Botulism | ... gram-positive bacterium. Botulism occurs in four forms: foodborne, wound, infant botulism, and adult intestinal toxemia. Botulinum toxin blocks acetylcholine release in a dose-dependent fashion, resulting in ... | Bacterial infectious disease | ||
| H00340 | Vancomycin-resistant enterococci infection | ... 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 | ||
| H00342 | Tuberculosis | ... deaths each year worldwide, more than from any other single bacterial pathogen. Inhalation is the predominant pathway of infection, making pulmonary tuberculosis the most common form of tuberculosis. Tuberculosis ... | Bacterial infectious disease | hsa05152 Tuberculosis |
IFNG (protection) [HSA:3458] [KO:K04687] IFNGR1 (susceptibility/protection) [HSA:3459] [KO:K05132] IFNGR2 [HSA:3460] [KO:K05133] HLA-DRB1 (susceptibility) [HSA:3123] [KO:K06752] HLA-DQB1 (susceptibility) [HSA:3119] [KO:K06752] SLC11A1 (susceptibility) [HSA:6556] [KO:K12347] VDR (susceptibility) [HSA:7421] [KO:K08539] MBL2 (protection) [HSA:4153] [KO:K03991] CCL2 (susceptibility) [HSA:6347] [KO:K14624] CD209 (susceptibility) [HSA:30835] [KO:K06563] CISH (susceptibility) [HSA:1154] [KO:K04701] IRGM (protection) [HSA:345611] [KO:K14139] SP110 (susceptibility) [HSA:3431] [KO:K24503] TIRAP (protection) [HSA:114609] [KO:K05403] TLR2 (susceptibility) [HSA:7097] [KO:K10159] |
| H00345 | Nocardiosis | ... disease is the most common clinical presentation especially in immunocompromised patients. Nocardiosis also occurs in disseminated form, affecting lungs, central nervous system, skin, and the soft tissues. | Bacterial infectious disease | ||
| H00352 | Whipple disease | ... 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 disease might ... | Bacterial infectious disease | ||
| H00358 |
Chagas disease American trypanosomiasis |
... Trypanosoma cruzi. The infection is transmitted by hematophagous reduviid insect vectors through fecal contamination. The majority of infected individuals live in Latin American countries. Chagas disease is characterized ... | Parasitic infectious disease | hsa05142 Chagas 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 | |
| H00362 |
Giardiasis Lambliasis |
... diarrhea caused by the protozoan parasite Giardia lamblia. Infection is transmitted by ingestion of contaminated water or food, or by person-to-person contact, affecting children, pregnant women, the immunocompromised ... | Parasitic infectious disease | ||
| H00363 | Candidiasis | Candidiasis is a fungal infection with Candida species, predominantly with Candida albicans. Invasive candidiasis is a major cause of morbidity and mortality in the intensive care unit (ICU) setting, causing ... | Fungal infectious disease | ||
| 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 | ||
| 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 | ||
| H00374 | Viral wart | ... associated with various skin warts including common warts, plantar warts, plane warts, condyloma acuminatum, Bowenoid papulosis, epidermodysplasia verruciformis, and laryngeal papillomas. Other lesions ... | Viral infectious disease | ||
| H00378 |
Lyssavirus infection Rabies-related virus infection |
... utilize mostly bats as their principal reservoir hosts as well as various terrestrial carnivores as terminal hosts. They can cause acute, fatal encephalitis similar to that seen with rabies virus infection ... | Viral infectious disease | ||
| H00381 | Dengue | ... serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China as early as the third century. | Viral infectious disease | ||
| H00387 | B virus infection | ... an alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is similar to that of HSV-1 and HSV-2 in humans and ... | Viral infectious disease | ||
| H00403 | Disorders of nucleotide excision repair | ... associated with mutations in the ERCC6 gene. CS is caused by mutations in ERCC8/CSA, ERCC6/CSB. CS is predominantly a developmental and neurological disorder. It results in a severely reduced lifespan but is not ... | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB/CS, TTD) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD, TTD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPE-2) DDB1 [HSA:1642] [KO:K10610] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS, COFS3) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] (CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB, DSC, UVS, COFS1) ERCC6 [HSA:2074] [KO:K10841] (TTD) GTF2H5 [HSA:404672] [KO:K10845] (COFS4) ERCC1 [HSA:2067] [KO:K10849] |
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| H00408 | Type 1 diabetes mellitus | ... the body. T1DM signs and symptoms can come on quickly and may include increased thirst and frequent urination, fatigue, weight loss and so on. It is recognized that both genetic and environmental determinants ... | Metabolic disease; Immune system disease; Endocrine disease | hsa04940 Type I diabetes mellitus |
(T1D2) INS [HSA:3630] [KO:K04526] (T1D5) SUMO4 [HSA:387082] [KO:K12160] (T1D10) IL2RA [HSA:3559] [KO:K05068] (T1D12) CTLA4 [HSA:1493] [KO:K06538] (T1D20) HNF1A [HSA:6927] [KO:K08036] (T1D22) CCR5 [HSA:1234] [KO:K04180] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] PTPN22 [HSA:26191] [KO:K18024] PTPN2 [HSA:5771] [KO:K18026] ERBB3 [HSA:2065] [KO:K05084] IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434] IFIH1 [HSA:64135] [KO:K12647] CLEC16A [HSA:23274] [KO:K19513] BACH2 [HSA:60468] [KO:K09042] CTSH [HSA:1512] [KO:K01366] SH2B3 [HSA:10019] [KO:K12459] C12orf30 [HSA:80018] [KO:K17973] CD226 [HSA:10666] [KO:K06567] ITPR3 [HSA:3710] [KO:K04960] CYP27B1 [HSA:1594] [KO:K07438] |
| H00410 | Maturity onset diabetes of the young (MODY) | ... genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years of age and primary insulin secretion defects. Mutations ... | Endocrine and metabolic disease | hsa04950 Maturity onset diabetes of the young |
(MODY1) HNF4A [HSA:3172] [KO:K07292] (MODY2) GCK [HSA:2645] [KO:K12407] (MODY3) HNF1A [HSA:6927] [KO:K08036] (MODY4) PDX1 [HSA:3651] [KO:K07594] (MODY5) HNF1B [HSA:6928] [KO:K08034] (MODY6) NEUROD1 [HSA:4760] [KO:K08033] (MODY7) KLF11 [HSA:8462] [KO:K09209] (MODY8) CEL [HSA:1056] [KO:K12298] (MODY9) PAX4 [HSA:5078] [KO:K08032] (MODY10) INS [HSA:3630] [KO:K04526] (MODY11) BLK [HSA:640] [KO:K08890] (MODY13) KCNJ11 [HSA:3767] [KO:K05004] (MODY14) APPL1 [HSA:26060] [KO:K08733] |
| H00411 |
Hepatitis A Hepatitis A virus (HAV) infection |
... called hepatovirus A, belonging to the Picornaviridae family of +ssRNA viruses. HAV can be transmitted through contaminated food and water. Unlike hepatitis B and C, hepatitis A does not become chronic. | Viral infectious disease | ||
| H00418 | Bardet-Biedl syndrome | ... with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism, polydactyly, renal dysfunction, and mental retardation. BBS ... | Inherited metabolic disorder |
(BBS1) BBS1 [HSA:582] [KO:K16746] (BBS2) BBS2 [HSA:583] [KO:K16747] (BBS3) ARL6 [HSA:84100] [KO:K07951] (BBS4) BBS4 [HSA:585] [KO:K16531] (BBS5) BBS5 [HSA:129880] [KO:K16748] (BBS6) MKKS [HSA:8195] [KO:K09492] (BBS7) BBS7 [HSA:55212] [KO:K16749] (BBS8) TTC8 [HSA:123016] [KO:K16781] (BBS9) BBS9 [HSA:27241] [KO:K19398] (BBS10) BBS10 [HSA:79738] [KO:K19401] (BBS11) TRIM32 [HSA:22954] [KO:K10607] (BBS12) BBS12 [HSA:166379] [KO:K19402] (BBS13) MKS1 [HSA:54903] [KO:K19332] (BBS14) CEP290 [HSA:80184] [KO:K16533] (BBS15) WDPCP [HSA:51057] [KO:K22863] (BBS16) SDCCAG8 [HSA:10806] [KO:K16488] (BBS17) LZTFL1 [HSA:54585] [KO:K19400] (BBS18) BBIP1 [HSA:92482] [KO:K19399] (BBS19) IFT27 [HSA:11020] [KO:K07934] (BBS20) IFT172 [HSA:26160] [KO:K19676] (BBS21) CFAP418 [HSA:157657] [KO:K25226] (BBS22) IFT74 [HSA:80173] [KO:K19679] |
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| H00420 | Familial partial lipodystrophy | Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have ... | Inherited metabolic disorder |
(FPLD2) LMNA [HSA:4000] [KO:K12641] (FPLD3) PPARG [HSA:5468] [KO:K08530] (FPLD4) PLIN1 [HSA:5346] [KO:K08768] (FPLD5) CIDEC [HSA:63924] [KO:K25878] (FPLD6) LIPE [HSA:3991] [KO:K07188] (FPLD7) CAV1 [HSA:857] [KO:K06278] (FPLD8) ADRA2A [HSA:150] [KO:K04138] (FPLD9) PLAAT3 [HSA:11145] [KO:K16817] (APLD) LMNB2 [HSA:84823] [KO:K07611] AKT2 [HSA:208] [KO:K04456] |
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| H00424 | Defects in the degradation of sphingomyelin | ... Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by deficient acid sphingomyelinase (ASM) activity, and Farber lipogranulomatosis is caused by acid ceramidase deficiency, resulting ... | Inherited metabolic disorder, Lysosomal disease |
(NPD) SMPD1 [HSA:6609] [KO:K12350] (Farber) ASAH1 [HSA:427] [KO:K12348] |
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| H00428 | Distal renal tubular acidosis (RTA type 1) | ... arises when the collecting duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading ... | Urinary system disease |
(DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573] (DRTA2) ATP6V1B1 [HSA:525] [KO:K02147] (DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154] |
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| H00429 | Proximal renal tubular acidosis (RTA type 2) | Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment ... | Urinary system disease | SLC4A4 [HSA:8671] [KO:K13575] | |
| H00430 | Fibrodysplasia ossificans progressiva | ... early childhood. Affected individuals harbor missense mutations in the ACVR1A gene that brings about constitutive activation of BMP type I receptor. FOP can be inherited in an autosomal dominant pattern. | Musculoskeletal disease | ACVR1 [HSA:90] [KO:K04675] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |