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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00084 | Graft-versus-host disease | ... tissue damage seen during step 3. During step 3, the effector phase, activated CTL and NK cells mediate cytotoxicity against target host cells through Fas-Fas ligand interactions and perforin-granzyme B. | 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] |
| H00085 | Agammaglobulinemias | ... switch recombination defects), and (c) common variable immunodeficiency (CVID). Category (a) consists of agammaglobulinaemias (AGM). Defects in early B cell development are characterized by the onset of recurrent ... | Immune system disease |
(AGMX1) BTK [HSA:695] [KO:K07370] (AGMX2) SH3KBP1 [HSA:30011] [KO:K12470] (AGM2) IGLL1 [HSA:3543] [KO:K06554] (AGM3) CD79A [HSA:973] [KO:K06506] (AGM4) BLNK [HSA:29760] [KO:K07371] (AGM5) LRRC8A [HSA:56262] [KO:K22038] (AGM6) CD79B [HSA:974] [KO:K06507] (AGM7) PIK3R1 [HSA:5295] [KO:K02649] (AGM8A/8B) TCF3 [HSA:6929] [KO:K09063] (AGM9) SLC39A7 [HSA:7922] [KO:K14713] (AGM10) SPI1 [HSA:6688] [KO:K09438] |
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| H00087 | Other humoral immunodeficiencies | ... that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin heavy-chain genes (such as gamma1 ... | Immune system disease |
DNMT3B [HSA:1789] [KO:K17399] IGKC Ig heavy chain |
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| H00089 |
IFN-gamma/IL-12 axis Mendelian susceptibility to mycobacterial disease (MSMD) |
The interferon-gamma-interleukin-12 axis is critical for defense against intracellular microbes such as mycobacteria, salmonella, and listeria. Mutations in either chain of the IFN-gammaR lead to severe ... | Primary immunodeficiency |
(IMD27) IFNGR1 [HSA:3459] [KO:K05132] (IMD28) IFNGR2 [HSA:3460] [KO:K05133] (IMD29) IL12B [HSA:3593] [KO:K05425] (IMD30) IL12RB1 [HSA:3594] [KO:K05063] (IMD31) STAT1 [HSA:6772] [KO:K11220] (IMD32) IRF8 [HSA:3394] [KO:K10155] (IMD33) IKBKG [HSA:8517] [KO:K07210] (IMD34) CYBB [HSA:1536] [KO:K21421] (IMD38) ISG15 [HSA:9636] [KO:K12159] (IMD42) RORC [HSA:6097] [KO:K08534] |
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| H00096 | Defects of toll-like receptor signaling | ... known TLR agonists. Despite the broad impairment at the two subsequent levels of onset (TLR) and propagation (IL-1R) of inflammation, the clinical phenotype of IRAK-4 deficiency is relatively mild. Patients ... | Primary immunodeficiency |
(IMD67) IRAK4 [HSA:51135] [KO:K04733] (IMD39) IRF7 [HSA:3665] [KO:K09447] (IMD74) TLR7 [HSA:51284] [KO:K05404] (IMD98) TLR8 [HSA:51311] [KO:K10170] |
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| H00100 | Neutropenic disorders | ... characterised by a reduction in circulating neutrophils. Since neutrophils play a major role in host defense against bacteria, neutropenia patients suffer from frequent episodes of opportunistic bacterial infections ... | Primary immunodeficiency |
(SCN1) ELANE [HSA:1991] [KO:K01327] (SCN2/NI-CINA) GFI1 [HSA:2672] [KO:K09223] (SCN3) HAX1 [HSA:10456] [KO:K16220] (SCN4) G6PC3 [HSA:92579] [KO:K01084] (SCN5) VPS45 [HSA:11311] [KO:K12479] (SCN6) JAGN1 [HSA:84522] [KO:K25789] (SCN7) CSF3R [HSA:1441] [KO:K05061] (SCN8) SRP54 [HSA:6729] [KO:K03106] (SCN9) CLPB [HSA:81570] [KO:K03695] (SCN10) SRP68 [HSA:6730] [KO:K03107] (SCN11) SEC61A1 [HSA:29927] [KO:K10956] (SCNX) WAS [HSA:7454] [KO:K05747] |
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| H00145 | Aspartylglucosaminuria | Aspartylglucosaminuria (AGU) is an autosomal recessive lysosomal storage disorder caused by deficiency of aspartylglucosaminidase, which is a key enzyme in the catabolism of N-linked oligosaccharides of ... | Inherited metabolic disorder, Lysosomal disease | AGA [HSA:175] [KO:K01444] | |
| H00146 | Alpha-N-acetylgalactosaminidase deficiency | Alpha-N-acetylgalactosaminidase (NAGA) deficiency is an autosomal recessive lysosomal storage disorder caused by deficiency of alpha-N-acetylgalactosaminidase, which removes terminal alpha-GalNAc monosaccharides ... | Inherited metabolic disorder, Lysosomal disease | NAGA [HSA:4668] [KO:K01204] | |
| H00203 |
Acatalasemia Takahara disease |
... substrates such 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 ... | Inherited metabolic disorder | CAT [HSA:847] [KO:K03781] | |
| H00217 | Pulmonary alveolar proteinosis | ... The vast majority of PAP occurs as an autoimmune PAP. In autoimmune PAP, patients generate antibodies against the granulocyte macrophage colony stimulating factor (GM-CSF) protein. Whole-lung lavage is the ... | Respiratory system disease | ||
| H00333 | Streptococcal infection | ... the beta-hemolytic streptococci, Streptococcus pyogenes (Group A streptococci, GAS) and Streptococcus agalactiae (Group B streptococci, GBS) are major human pathogens. GAS causes over 600 million cases of ... | Bacterial infectious disease | ||
| H00343 | Diphtheria | ... life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the 1940s and the incidence of the disease markedly decreased ... | Bacterial infectious disease | ||
| H00358 |
Chagas disease American trypanosomiasis |
Chagas disease, also known as American trypanosomiasis, is caused by infection with protozoan parasite Trypanosoma cruzi. The infection is transmitted by hematophagous reduviid insect vectors through fecal ... | Parasitic infectious disease | hsa05142 Chagas disease | |
| H00359 | Leishmaniasis | ... humans, leishmanial infections cause cutaneous leishmaniasis (CL), mucocutaneous leishmaniasis (MCL), and visceral leishmaniasis/kala-azar (VL). There is no defined vaccine available against the disease. | Parasitic infectious disease | hsa05140 Leishmaniasis | |
| H00408 | Type 1 diabetes mellitus | ... type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated blood ... | 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] |
| H00422 | Glycoproteinoses | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... | Inherited metabolic disorder, Lysosomal disease |
(Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186] (Galactosialidosis) CTSA [HSA:5476] [KO:K13289] (Galactosialidosis) GLB1 [HSA:2720] [KO:K12309] (alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311] (beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192] (AGU) AGA [HSA:175] [KO:K01444] (Fucosidosis) FUCA1 [HSA:2517] [KO:K01206] (Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204] |
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| H00668 | Anemia due to disorders of glutathione metabolism | ... are affected by this deficiency. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava ... | Hematologic disease |
G6PD [HSA:2539] [KO:K00036] GPX1 [HSA:2876] [KO:K00432] GCLC [HSA:2729] [KO:K11204] GSS [HSA:2937] [KO:K21456] GSR [HSA:2936] [KO:K00383] |
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| H00723 | Non-epidermolytic palmoplantar keratoderma | ... palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on. | Congenital malformation |
(NEPPK) KRT16 [HSA:3868] [KO:K07604] (PPKNEFD) KRT6C [HSA:286887] [KO:K07605] |
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| H00759 | Waardenburg syndrome | ... similar to WS 1 with additional musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2 ... | Inherited metabolic disorder |
(WS1/3) PAX3 [HSA:5077] [KO:K09381] (WS2A) MITF [HSA:4286] [KO:K09455] (WS2E/4C) SOX10 [HSA:6663] [KO:K09270] (WS2F) KITLG [HSA:4254] [KO:K05461] (WS4A) EDNRB [HSA:1910] [KO:K04198] (WS4B) EDN3 [HSA:1908] [KO:K05227] |
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| H01059 | Capnocytophaga canimorsus infection | Capnocytophaga canimorsus is a fastidious, gram-negative commensal bacterium in the normal oral flora of dogs and cats. The bacterium has been isolated from humans infected by dog, or cat bites, scratches ... | Bacterial infectious disease | ||
| H01375 | Glucose 6-phosphate dehydrogenase deficiency | ... triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative stresses from certain drugs, infections, metabolic conditions, and ingestion of fava ... | Inherited metabolic disorder | G6PD [HSA:2539] [KO:K00036] | |
| H01404 | Punctate palmoplantar keratoderma | ... mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1. | Congenital malformation |
(PPKP1A) AAGAB [HSA:79719] [KO:K23878] (PPKP1B) COL14A1 [HSA:7373] [KO:K08133] |
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| H01407 | Capnocytophaga ochracea infection | Capnocytophaga ochracea is a Gram-negative bacterium, capnophilic (CO2-requiring) organism, originally isolated from a human oral cavity. C. ochracea is a normal inhabitant of the human mouth and other ... | Bacterial infectious disease | ||
| H01411 | Saccharomonospora viridis infection | ... species are frequently found in hot compost and hay, and its spores can cause farmer's lung disease, bagassosis, and humidifier fever. Spores of S. viridis are readily dispersed in air, and the prolonged ... | Bacterial infectious disease | ||
| H01443 | Viridans group streptococcal infection | ... macrolide-lincosamide-streptogramin B (MLS) drugs is an evolving problem, several drugs remain uniformly active against the VGS. Thus far, VGS resistance to vancomycin, linezolid, and daptomycin remains extremely ... | Bacterial infectious disease | ||
| H01479 | Castleman disease | ... IL-6/IL-6R complex have been approved for the treatment of Castleman disease. Tocilizumab is a monoclonal antibody directed against the IL-6 receptor, and siltuximab is a monoclonal antibody specific for IL-6. | Immune system disease | IL6 [HSA:3569] [KO:K05405] | |
| H01490 | Multiple sclerosis | ... considered equally effective, and include interferon beta and glatiramer acetate. They are primarily directed against inflammation, and might fail to adequately control disease activity in some patients. In that ... | Immune system disease |
(MS) PDCD1 [HSA:5133] [KO:K06744] (MS) HLA-DRB1 [HSA:3123] [KO:K06752] (MS) HLA-DQB1 [HSA:3119] [KO:K06752] (MS5) TNFRSF1A [HSA:7132] [KO:K03158] |
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| H01492 |
Systemic sclerosis Systemic scleroderma |
... disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients, and these ANA react against various intracellular components. However, one patient rarely has two or more types of ANA. The ... | Immune system disease; Skin disease | ||
| H01510 |
Malignant paraganglioma Pheochromocytoma |
Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor ... | Cancer |
SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679] |
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| H01511 | Mast-cell leukemia | ... reason of poor prognosis of MCL patients is mostly that MCs in these patients are largely resistant against conventional drugs and targeted drugs, including tyrosine kinase inhibitors (TKI) directed against ... | Cancer | KIT (mutation) [HSA:3815] [KO:K05091] | |
| H01577 | Essential tremor | ... parts of the body, and occurs exclusively during voluntary movements (action tremor) or in positions against gravity (postural tremor). The phenotypic severity of ET is variable, as evidenced by the existence ... | Nervous system disease |
(ETM1) DRD3 [HSA:1814] [KO:K04146] (ETM4) FUS [HSA:2521] [KO:K13098] (ETM5) TENM4 [HSA:26011] [KO:K24473] (ETM6) NOTCH2NLC [HSA:100996717] [KO:K24466] |
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| H01586 | Acquired pure red cell aplasia | ... when no aetiology can be identified using available investigations. The causes of secondary PRCA are again diverse and can be due to infections (viral, bacterial, etc.), drugs (erythropoietin, carbamazepine ... | Hematologic disease | ||
| H01594 | Myasthenia gravis | ... these clinical features can vary. MG is B-cell mediated, and is associated with antibodies directed against the acetylcholine receptor (AChR), muscle-specific kinase (MUSK), lipoprotein-related protein ... | Immune system disease; Nervous system disease | ||
| H01596 | Lambert-Eaton myasthenic syndrome | ... myasthenic syndrome (LEMS) is an autoimmune disease of neuromuscular transmission in which autoantibodies against the P/Q-type voltage-gated calcium channel (VGCC) at the presynaptic nerve terminal play a major ... | Immune system disease; Nervous system disease | ||
| H01650 | Pemphigoid | ... autoimmune blistering disorders of the skin and mucous membranes characterized by autoantibodies directed against structural proteins of the dermal-epidermal junction that clinically can manifest with urticarial ... | Immune system disease; Skin disease | ||
| H01656 | Psoriasis | Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are itchy ... | Immune system disease; Skin disease |
(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395] |
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| H01658 | Microscopic polyangiitis | ... [DS:H01468], which have different frequencies of ANCA-positivity. ANCA in MPA are predominantly directed against myeloperoxidase (MPO-ANCA) but may, in a minority of patients, be directed against proteinase ... | Immune system disease | ||
| H01696 | Subacute sclerosing panencephalitis | ... not precisely known how the measles virus remains dormant for so many years and why it becomes active again. More recent data indicate that it can follow acute measles infection in 1:10,000 cases. The incidence ... | Neurodegenerative disease; Viral infectious disease | ||
| H01720 | Southeast Asian ovalocytosis | ... these parts of Southeast Asia historically have had a high incidence of Plasmodium falciparum malaria, against which SAO offers clinical protection. Individuals with SAO are characterized as having oval-shaped ... | Hematologic disease | (SAO) SLC4A1 [HSA:6521] [KO:K06573] | |
| H01721 |
Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome |
... following a rapidly progressive glomerulonephritis. The disease is caused by an autoimmune response against the non-collagenase domain of the alpha 3 chain of type IV collagen [alpha3(IV)NC1], found in ... | Immune system disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |