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Entry Name Description Category Pathway Gene
H00035 Ewing sarcoma Ewing 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 ... 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]
H00109 Familial hemophagocytic lymphohistiocytosis ... (hemophagocytic activation) that infiltrate into liver, spleen, bone marrow, and CNS. The symptoms include fever, hepatosplenomegaly, and cytopenia. Homozygous and heterozygous gene mutations of perforin, the ... 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]
H00111 Typhoid fever Typhoid fever, or typhoid, caused by Salmonella enterica serovar Typhi is a systemic febrile disease and endemic disease in many areas of the world, mainly in developing countries. Typhoid is transmitted ... Bacterial infectious disease hsa05132 Salmonella infection
H00112 Paratyphoid fever Paratyphoid fever is a systemic febrile illness endemic in developing countries where sanitation is lacking and access to clean water is reduced. The disease is similar to typhoid fever [DS:H00111] but ... Bacterial infectious disease
H00113 Salmonellosis ... serotype of bacteria in the genus Salmonella, other than Salmonella that causes typhoid and paratyphoid fever. Salmonellosis is one of the most frequently occurring food-borne diseases worldwide. Foods prepared ... Bacterial infectious disease
H00274 Papillon-Lefevre syndrome Papillon-Lefevre syndrome (PLS) is an autosomal recessive disorder caused by deficiency of cathepsin C, a lysosomal cysteine proteinase that functions by removing dipeptides from the amino termini of its ... Inherited metabolic disorder, Lysosomal disease CTSC [HSA:1075] [KO:K01275]
H00283 Ebola disease
Ebola hemorrhagic fever 		Ebola disease, also known as Ebola hemorrhagic fever, is a deadly infectious disease caused by ebolaviruses within the genus Ebolavirus in the family Filoviridae of -ssRNA viruses. Four ebolavirus are ... Viral infectious disease
H00284 Crimean-Congo hemorrhagic fever Crimean-Congo hemorrhagic fever is an often fatal infectious disease caused by Crimean-Congo hemorrhagic fever virus (CCHFV), an orthonairovirus in the order Bunyavirales of -ssRNA viruses, and transmitted ... Viral infectious disease
H00288 Familial Mediterranean fever
Familial hereditary periodic fever syndromes 		Familial Mediterranean fever (FMF) is the most prevalent hereditary periodic fever, affecting 0.1% in people of Mediterranean descent. It is also reported throughout the world's populations. FMF is an ... Immune system disease MEFV [HSA:4210] [KO:K12803]
H00310 Q fever Q fever is a worldwide zoonosis caused by Coxiella burnetii, a gram-negative obligate intracellular bacterium. This infection has many different reservoirs that mainly consist of dairy cattle. Infection ... Bacterial infectious disease
H00311 Legionellosis
Legionnaires disease 		... pneumonia, and can cause neurological symptoms, diarrhea and high mortality (up to 50%), and Pontiac fever, with a shorter incubation period of 1-2 days, which is an acute, self-limited, influenza-like ... Bacterial infectious disease hsa05134 Legionellosis TLR5 [HSA:7100] [KO:K10168]
H00312 Tularemia ... America, Europe, and Asia. The most common clinical presentation is ulceroglandular tularemia with chills, fever, head and muscle pain, and prostration. Some people may develop pneumonia or septicemia. Rabbits ... Bacterial infectious disease
H00323 Spotted fever
Tick-borne rickettsioses 		Tick-borne rickettsioses are caused by gram-negative obligate intracellular bacteria belonging to the spotted fever group (SFG) of the genus Rickettsia within the family Rickettsiaceae in the order Rickettsiales ... 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 ... Africa, and western Asia. Consumption of contaminated foods is the sources of infection. The clinical presentation can vary from asymptomatic infection to a fever, night sweats, and joint manifestations. Bacterial infectious disease
H00327 Trench fever Trench fever is a disease caused by the facultative intracellular gram-negative bacterium Bartonella quintana. It affected several million people worldwide during the two world wars. The incidence of trench ... Bacterial infectious disease
H00336 Gas gangrene
Clostridial myonecrosis 		... and histolyticum are the principal causes of trauma-associated gas gangrene. It is characterized by fever, pain, edema, myonecrosis and gas production. Recently, there has also been an increased incidence ... Bacterial infectious disease
H00350 Psittacosis
Parrot fever 		... intracellular bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation ... Bacterial infectious disease
H00361 Malaria ... death. Most severe cases occur in sub-Saharan Africa. In severe malaria, complications such as anemia, respiratory distress, renal failure, and cerebral malaria are observed in addition to cyclical fevers. Parasitic infectious disease hsa05144 Malaria ACKR1 (protection) [HSA:2532] [KO:K06574]
CD36 (susceptibility/reduced risk) [HSA:948] [KO:K06259]
CISH (susceptibility) [HSA:1154] [KO:K04701]
CR1 (resistance) [HSA:1378] [KO:K04011]
FCGR2A (susceptibility) [HSA:2212] [KO:K06472]
FCGR2B (resistance) [HSA:2213] [KO:K12560]
G6PD (resistance) [HSA:2539] [KO:K00036]
GYPA (resistance) [HSA:2993] [KO:K06575]
GYPB (resistance) [HSA:2994] [KO:K20925]
GYPC (resistance) [HSA:2995] [KO:K06576]
HBB (resistance) [HSA:3043] [KO:K13823]
ICAM1 (susceptibility) [HSA:3383] [KO:K06490]
NOS2 (resistance) [HSA:4843] [KO:K13241]
SLC4A1 (resistance) [HSA:6521] [KO:K06573]
TIRAP (protection) [HSA:114609] [KO:K05403]
TNF (susceptibility) [HSA:7124] [KO:K03156]
H00367 Infectious mononucleosis
Epstein-Barr virus (EBV) infection 		... whose initial infection manifests as infectious mononucleosis that is defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes a life-long asymptomatic infection in B cells and ... Viral infectious disease hsa05169 Epstein-Barr virus infection
H00380 Tick-borne viral encephalitis Tick-borne viral encephalitis is a group of diseases caused by arboviruses closely related to yellow fever, dengue, Japanese encephalitis, and West Nile viruses. It is the most important viral tick-borne ... Viral infectious disease
H00381 Dengue ... arboviral infection worldwide, and at least four different 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 ... Viral infectious disease
H00382 Mosquito-borne viral fever Mosquito-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different ... Viral infectious disease
H00383 Arthropod-borne viral fever Arthropod-borne viral fevers are infectious diseases caused by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes, other insects, mites and ticks. Arboviruses are zoonotic viruses and ... Viral infectious disease
H00384 Yellow fever Yellow fever is an infectious disease caused by Yellow fever virus (YFV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. YFV was first isolated in 1927 ... Viral infectious disease
H00385 South American hemorrhagic fever ... viruses have a natural reservoir in rodents and occasionally infect humans causing viral hemorrhagic fevers. Phylogenetically, arenaviruses can be divided into Old World and New World groups, reflecting ... Viral infectious disease
H00386 Lassa fever Lassa fever is an acute viral hemorrhagic illness caused by Lassa virus (LASV), an Old World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. LASV was first discovered ... Viral infectious disease
H00389 Hemorrhagic fever with renal syndrome Hemorrhagic fever with renal syndrome (HFRS) is a group of diseases caused by hantaviruses which are members of family Bunyaviridae. Rodents and Soricomorpha species are natural reservoirs of these viruses ... Viral infectious disease
H00396 Mumps Mumps is an acute systemic viral infection classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic meningitis ... Viral infectious disease
H00397 Ross River fever Ross River fever is an infectious disease caused by Ross River virus (RRV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes and Culex mosquitoes. RRV was first isolated ... Viral infectious disease
H00404 Erythema infectiosum
Fifth disease 		... caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent children. Parvovirus B 19 also causes a wide range of clinical complications ... Viral infectious disease
H00405 Marburg disease
Marburg hemorrhagic fever 		... within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent of Ebola hemorrhagic fever. Marburgvirus was discovered in 1967 in Germany. Viral infectious disease
H00416 Omsk hemorrhagic fever Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic ... Viral infectious disease
H00425 Lysosomal cysteine protease deficiencies ... though there are eleven lysosomal cysteine proteases. Deficiency of cathepsin C leads to Papillon-Lefevre syndrome characterized by palmoplantar hyperkeratosis and severe early onset periodontitis. Deficiency ... Inherited metabolic disorder, Lysosomal disease (PLS) CTSC [HSA:1075] [KO:K01275]
(Pycnodysostosis) CTSK [HSA:1513] [KO:K01371]
H00427 Relapsing fever Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, ... Bacterial infectious disease
H00589 Familial exudative vitreoretinopathy Familial exudative vitreoretinopathy (FEVR) is inherited retinal disorders with ocular manifestations that are caused by alterations in the Wnt signaling network. FEVR has an abnormal vascularization of ... Nervous system disease (EVR1) FZD4 [HSA:8322] [KO:K02354]
(EVR2) NDP [HSA:4693] [KO:K25688]
(EVR4) LRP5 [HSA:4041] [KO:K03068]
(EVR5) TSPAN12 [HSA:23554] [KO:K17355]
(EVR6) ZNF408 [HSA:79797] [KO:K24372]
(EVR7) CTNNB1 [HSA:1499] [KO:K02105]
H00783 Febrile seizures ... seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile seizures ... Nervous system disease (FEB2) HCN2 [HSA:610] [KO:K04955]
(FEB3) SCN1A [HSA:6323] [KO:K04833]
(FEB4) ADGRV1 [HSA:84059] [KO:K18263]
(FEB8) GABRG2 [HSA:2566] [KO:K05186]
(FEB11) CPA6 [HSA:57094] [KO:K08782]
H00912 Tumor necrosis factor receptor-associated periodic syndrome
Familial periodic fever 		... characterized by recurrent febrile attacks and localized inflammation in the absence of autoantibodies. Recurrent fever, abdominal pain, myalgia, and arthralgia are the most common manifestations of TRAPS. Immune system disease TNFRSF1A [HSA:7132] [KO:K03158]
H01045 Schistosomiasis ... schistosome eggs leads to acute schistosomiasis that is characterized by cercarial dermatitis and Katayama fever. Life-threatening cardiac and neurological complications may occur. Schistosome eggs can also lead ... Parasitic infectious disease
H01054 Pediculosis ... occurs mainly through contact with contaminated clothing or bedding. Body louse is major vectors of diseases such as epidemic typhus [DS:H00322], trench fever [DS:H00327], and relapsing fever [DS:H00427]. Parasitic infectious disease
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