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Entry | Name | Description | Category | Pathway | Gene |
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H00004 | Chronic myeloid leukemia | ... region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, which, unlike the normal p145 c-Abl, has constitutive tyrosine kinase activity and is predominantly localized in ... | Cancer | hsa05220 Chronic myeloid leukemia |
BCR-ABL (translocation) [HSA:613 25] [KO:K08878 K06619] MECOM (overexpression) [HSA:2122] [KO:K04462] RUNX1 (translocation) [HSA:861] [KO:K08367] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] |
H00007 | Hodgkin lymphoma | ... receptor signalling through CD40, RANK, BCMA, and TACI, genomic REL amplification, destructive mutations in IKBA and IKBE. In HL pathogenesis associated with Epstein-Barr virus infection, the activation of NF-{kappa}B ... | Cancer |
NFKBIA [HSA:4792] [KO:K04734] NFKBIE [HSA:4794] [KO:K05872] REL (amplification) [HSA:5966] [KO:K09254] FAS [HSA:355] [KO:K04390] KLHDC8B [HSA:200942] |
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H00011 | Lymphoplasmacytic lymphoma | ... the spleen. WM can be distinguished clinically from LPL on the basis of a detectable IgM monoclonal spike in serum. In the general population, LPL/WM is a very rare disease, accounting for only 1%-2% of ... | Cancer | Pax5-IgH (translocation) [HSA:5079] [KO:K09383] | |
H00014 | Non-small cell lung cancer | Lung cancer is a leading cause of cancer death among men and women in industrialized countries. Non-small-cell lung cancer (NSCLC) accounts for approximately 85% of lung cancer and represents a heterogeneous ... | Cancer | hsa05223 Non-small cell lung cancer |
EML4-ALK (translocation) [HSA:238] [KO:K05119] CD74-ROS1,SLC34A2-ROS1 (translocation) [HSA:6098] [KO:K05088] KIF5B-RET (inversion) [HSA:5979] [KO:K05126] RARB (promoter hypermethylation) [HSA:5915] [KO:K08528] RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850] KRAS [HSA:3845] [KO:K07827] EGFR [HSA:1956] [KO:K04361] FHIT [HSA:2272] [KO:K01522] CDKN2A [HSA:1029] [KO:K06621] TP53 [HSA:7157] [KO:K04451] MET [HSA:4233] [KO:K05099] BRAF [HSA:673] [KO:K04365] PIK3CA [HSA:5290] [KO:K00922] IRF1 [HSA:3659] [KO:K09444] PPP2R1B [HSA:5519] [KO:K03456] |
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] |
H00019 | Pancreatic cancer | ... extensive genomic instability and aneuploidy. Telomere attrition and mutations in p53 and BRCA2 are likely to contribute to these phenotypes. Inactivation of the SMAD4 tumour suppressor gene leads to loss ... | Cancer | hsa05212 Pancreatic cancer |
KRAS [HSA:3845] [KO:K07827] TP53 [HSA:7157] [KO:K04451] SMAD4 [HSA:4089] [KO:K04501] STK11 [HSA:6794] [KO:K07298] ERBB2 (overexpression) [HSA:2064] [KO:K05083] CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621] (PNCA1) PALLD [HSA:23022] [KO:K22029] (PNCA2) BRCA2 [HSA:675] [KO:K08775] (PNCA3) PALB2 [HSA:79728] [KO:K10897] (PNCA4) BRCA1 [HSA:672] [KO:K10605] (PNCA5) RABL3 [HSA:285282] [KO:K07933] |
H00020 | Colorectal cancer | Colorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in defined ... | Cancer | hsa05210 Colorectal cancer |
(HNPCC) MLH1 [HSA:4292] [KO:K08734] (HNPCC) MLH3 [HSA:27030] [KO:K08739] (HNPCC) MSH2 [HSA:4436] [KO:K08735] (HNPCC) MSH6 [HSA:2956] [KO:K08737] (HNPCC) TGFBR2 [HSA:7048] [KO:K04388] (FAP) APC [HSA:324] [KO:K02085] (FAP) MSH3 [HSA:4437] [KO:K08736] (PPAP) POLD1 [HSA:5424] [KO:K02327] (PPAP) POLE [HSA:5426] [KO:K02324] DCC [HSA:1630] [KO:K06765] KRAS [HSA:3845] [KO:K07827] GALNT12 [HSA:79695] [KO:K00710] SMAD7 [HSA:4092] [KO:K19631] SMAD4 [HSA:4089] [KO:K04501] SMAD2 [HSA:4087] [KO:K04500] BAX [HSA:581] [KO:K02159] AXIN2 [HSA:8313] [KO:K04385] BRAF [HSA:673] [KO:K04365] CCND1 [HSA:595] [KO:K04503] CHEK2 [HSA:11200] [KO:K06641] CTNNB1 [HSA:1499] [KO:K02105] FLCN [HSA:201163] [KO:K09594] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] BUB1 [HSA:699] [KO:K02178] BUB1B [HSA:701] [KO:K06637] AURKA [HSA:6790] [KO:K11481] EGF (overexpression) [HSA:1950] [KO:K04357] TGFA (overexpression) [HSA:7039] [KO:K08774] EREG (overexpression) [HSA:2069] [KO:K09784] AREG (overexpression) [HSA:374] [KO:K09782] |
H00027 | Ovarian cancer | ... the accumulation of genetic damage over a lifetime. Several specific genes involved in ovarian carcinogenesis have been identified, including the p53 tumor suppressor gene and ERBB2 and PIK3CA oncogenes. | Cancer |
BRCA1 (germline mutation / deletion) [HSA:672] [KO:K10605] BRCA2 (germline mutation / deletion) [HSA:675] [KO:K08775] MSH2 (germline mutation) [HSA:4436] [KO:K08735] MLH1 (germline mutation) [HSA:4292] [KO:K08734] ERBB2 (amplification / overexpression) [HSA:2064] [KO:K05083] K-ras (mutation) [HSA:3845] [KO:K07827] AKT2 (amplification) [HSA:208] [KO:K04456] PIK3CA (amplification) [HSA:5290] [KO:K00922] c-MYC (overexpression) [HSA:4609] [KO:K04377] p53 (mutation / deletion, overexpression) [HSA:7157] [KO:K04451] CTNNB1 [HSA:1499] [KO:K02105] PRKN [HSA:5071] [KO:K04556] OPCML [HSA:4978] [KO:K06773] AKT1 [HSA:207] [KO:K04456] CDH1 [HSA:999] [KO:K05689] |
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H00031 | Breast cancer | ... negative and HER2 positive (HER2 positive), and hormone receptor negative and HER2 negative (basal-like or triple-negative breast cancers (TNBCs)). Hormone receptor positive breast cancers are largely ... | Cancer | hsa05224 Breast cancer |
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605] BRCA2 [HSA:675] [KO:K08775] BARD1 [HSA:580] [KO:K10683] BRIP1 [HSA:83990] [KO:K15362] PALB2 [HSA:79728] [KO:K10897] RAD51 [HSA:5888] [KO:K04482] RAD54L [HSA:8438] [KO:K10875] XRCC3 [HSA:7517] [KO:K10880] ERBB2/HER2 (overexpression) [HSA:2064] [KO:K05083] ESR1/ER1 [HSA:2099] [KO:K08550] PGR [HSA:5241] [KO:K08556] GATA3 [HSA:2625] [KO:K17895] PIK3CA [HSA:5290] [KO:K00922] TP53 [HSA:7157] [KO:K04451] PPM1D [HSA:8493] [KO:K10147] RB1CC1 [HSA:9821] [KO:K17589] HMMR [HSA:3161] [KO:K06267] NQO2 [HSA:4835] [KO:K08071] SLC22A18 [HSA:5002] [KO:K08214] PTEN [HSA:5728] [KO:K01110] EGFR (overexpression) [HSA:1956] [KO:K04361] KIT (overexpression) [HSA:3815] [KO:K05091] NOTCH1 (overexpression) [HSA:4851] [KO:K02599] NOTCH4 (overexpression) [HSA:4855] [KO:K20996] FZD7 (overexpression) [HSA:8324] [KO:K02432] LRP6 (overexpression) [HSA:4040] [KO:K03068] FGFR1 (amplification) [HSA:2260] [KO:K04362] CCND1 (amplification) [HSA:595] [KO:K04503] |
H00037 | Rhabdomyosarcoma | ... muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS is divided into two major subtypes: embryonal (ERMS) ... | Cancer |
PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
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H00040 | Squamous cell carcinoma | ... increasing world- wide. Approximately 200000 cases of SCC develop per year, causing about 2000 deaths. Unlike BCCs, which have no known precursor lesions, SCCs can emerge from actinic keratoses. As with BCC ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] H-ras (mutation) [HSA:3265] [KO:K02833] K-ras (mutation) [HSA:3845] [KO:K07827] |
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H00043 | Neuroblastoma | ... rearrangements, and they usually express the TrkA neurotrophin receptor. Patients with these tumors are more likely to be less than 1 year of age. The remaining children have widespread metastatic disease or quite ... | Cancer |
MYCN (normal/amplified) [HSA:4613] [KO:K09109] NTRK1 (high/low expression) [HSA:4914] [KO:K03176] NTRK2 (low/high expression) [HSA:4915] [KO:K04360] NTRK3 (high/low expression) [HSA:4916] [KO:K05101] (NBLST1) KIF1B [HSA:23095] [KO:K10392] (NBLST2) PHOX2B [HSA:8929] [KO:K09330] (NBLST3) ALK [HSA:238] [KO:K05119] |
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H00048 |
Hepatocellular carcinoma Liver cancer |
Hepatocellular carcinoma (HCC) is a major type of primary liver cancer and one of the rare human neoplasms etiologically linked to viral factors. It has been shown that, after HBV/HCV infection and alcohol ... | 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] |
H00060 | Dentatorubropallidoluysian atrophy (DRPLA) | Dentatorubropallidoluysian atrophy (DRPLA) is one of the CAG repeat diseases like Huntington's disease. It is caused by expansion of a CAG repeat in the atrophin 1 gene and shows various combinations of ... | Neurodegenerative disease | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
H00083 | Allograft rejection | ... allospecificity can contribute to graft rejection by activating macrophages, which cause tissue injury and fibrosis, and are also likely to be important in the development of an alloantibody response to graft. | 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] |
H00085 | Agammaglobulinemias | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | 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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H00088 | Common variable immunodeficiency | There are three major categories of antibody deficiencies: (a) defects in early B cell development, (b) hyper-IgM syndromes (also called class switch recombination defects), and (c) common variable immunodeficiency ... | Immune system disease |
(CVID1) ICOS [HSA:29851] [KO:K06713] (CVID2) TNFRSF13B [HSA:23495] [KO:K05150] (CVID3) CD19 [HSA:930] [KO:K06465] (CVID4) TNFRSF13C [HSA:115650] [KO:K05151] (CVID5) MS4A1 [HSA:931] [KO:K06466] (CVID6) CD81 [HSA:975] [KO:K06508] (CVID7) CR2 [HSA:1380] [KO:K04012] (CVID8) LRBA [HSA:987] [KO:K24181] (CVID10) NFKB2 [HSA:4791] [KO:K04469] (CVID11) IL21 [HSA:59067] [KO:K05434] (CVID12) NFKB1 [HSA:4790] [KO:K02580] (CVID13) IKZF1 [HSA:10320] [KO:K09220] (CVID14) IRF2BP2 [HSA:359948] [KO:K27448] (CVID15) SEC61A1 [HSA:29927] [KO:K10956] |
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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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H00093 | Combined immunodeficiency | The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell ... | Primary immunodeficiency |
CD40LG (TNFSF5) [HSA:959] [KO:K03161] CD40 [HSA:958] [KO:K03160] PNP [HSA:4860] [KO:K03783] CD8A [HSA:925] [KO:K06458] (IMD6) IL2RG [HSA:3561] [KO:K05070] (IMD9) ORAI1 [HSA:84876] [KO:K16056] (IMD10) STIM1 [HSA:6786] [KO:K16059] (IMD11) CARD11 [HSA:84433] [KO:K07367] (IMD12) MALT1 [HSA:10892] [KO:K07369] (IMD15) IKBKB [HSA:3551] [KO:K07209] (IMD16) TNFRSF4 [HSA:7293] [KO:K05142] (IMD17) CD3G [HSA:917] [KO:K06452] (IMD22) LCK [HSA:3932] [KO:K05856] (IMD24) CTPS1 [HSA:1503] [KO:K01937] (IMD37) BCL10 [HSA:8915] [KO:K07368] (IMD40) DOCK2 [HSA:1794] [KO:K12367] (IMD48) ZAP70 [HSA:7535] [KO:K07360] (IMD50) MSN [HSA:4478] [KO:K05763] (IMD55) GINS1 [HSA:9837] [KO:K10732] (IMD59) HYOU1 [HSA:10525] [KO:K09486] (IMD85) TOM1 [HSA:10043] [KO:K26401] (IMD97) PIK3CG [HSA:5294] [KO:K21289] (IMD110) STK4 [HSA:6789] [KO:K04411] (IMD112) MAP3K14 [HSA:9020] [KO:K04466] |
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H00094 | Immunodeficiency associated with DNA repair defects | ... to develop malignancies. Ataxia telangiectasia (AT), Nijmegen breakage syndrome (NBS), and an ataxia-like disorder (ATLD), are chromosome instability disorders that are defective in the ataxia telangiectasia ... | Primary immunodeficiency |
ATM [HSA:472] [KO:K04728] MRE11A [HSA:4361] [KO:K10865] NBS1(Nibrin) [HSA:4683] [KO:K10867] LIG1 [HSA:3978] [KO:K10747] LIG4 [HSA:3981] [KO:K10777] BLM [HSA:641] [KO:K10901] MCM4 [HSA:4173] [KO:K02212] (LICS) NSMCE3 [HSA:56160] [KO:K22823] |
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H00095 | Ectodermal dysplasia and immunodeficiency | ... identification of disease-causing hypomorphic mutations in NEMO, which is located on the X chromosome and encodes IKK-gamma. A novel autosomal dominant of EDA-ID, recently identified in one child, was found to be caused ... | Immune system disease |
(EDAID1) IKBKG [HSA:8517] [KO:K07210] (EDAID2) NFKBIA [HSA:4792] [KO:K04734] |
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H00096 | Defects of toll-like receptor signaling | ... (IRAK-4) deficiency is a primary immunodeficiency that impairs Toll/IL-1R immunity, except for the Toll-like receptor (TLR) 3- and TLR4-interferon (IFN)-a/b pathways. IRAK-4 is a kinase that plays a crucial ... | 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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H00097 | WHIM syndrome | ... truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical manifestations of the ... | Primary immunodeficiency |
(WHIMS1) CXCR4 [HSA:7852] [KO:K04189] (WHIMS2) CXCR2 [HSA:3579] [KO:K05050] |
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H00102 | Classic complement pathway component defects | ... deficiency, and are associated with increased risk to develop systemic lupus erythematosus (SLE) and SLE-like diseases. Homozygous C2 deficiency, which is the most frequent hereditary deficiency in complement ... | Primary immunodeficiency |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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H00106 | Complement regulatory protein defects | ... case of CD59 deficiency has been reported and this individual developed a paroxysmal nocturnal haemoglobinuria(PNH)-like illness. In contrast, deficiency of DAF is not associated with haemolytic anaemia. | Primary immunodeficiency |
SERPING1 [HSA:710] [KO:K04001] C4BPA [HSA:722] [KO:K04002] C4BPB [HSA:725] [KO:K04003] CFI [HSA:3426] [KO:K01333] CD55 [HSA:1604] [KO:K04006] CD59 [HSA:966] [KO:K04008] |
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H00118 | Congenital disorders of glycosylation type I | Congenital disorders of glycosylation (CDG) are a group of disorders caused by defects in various genes for N-glycan biosynthesis. CDG type I is defined by mutations in genes encoding enzymes which involves ... | Inherited metabolic disorder |
(CDG-Ia) PMM2 [HSA:5373] [KO:K17497] (CDG-Ib) MPI [HSA:4351] [KO:K01809] (CDG-Ic) ALG6 [HSA:29929] [KO:K03848] (CDG-Id) ALG3 [HSA:10195] [KO:K03845] (CDG-Ie) DPM1 [HSA:8813] [KO:K00721] (CDG-If) MPDU1 [HSA:9526] [KO:K09660] (CDG-Ig) ALG12 [HSA:79087] [KO:K03847] (CDG-Ih) ALG8 [HSA:79053] [KO:K03849] (CDG-Ii) ALG2 [HSA:85365] [KO:K03843] (CDG-Ij) DPAGT1, ALG7 [HSA:1798] [KO:K01001] (CDG-Ik) ALG1 [HSA:56052] [KO:K03842] (CDG-IL) ALG9 [HSA:79796] [KO:K03846] (CDG-Im) DOLK [HSA:22845] [KO:K00902] (CDG-In) RFT1 [HSA:91869] [KO:K06316] (CDG-Io) DPM3 [HSA:54344] [KO:K09659] (CDG-Ip) ALG11 [HSA:440138] [KO:K03844] (CDG-Iq) SRD5A3 [HSA:79644] [KO:K12345] (CDG-Ir) DDOST [HSA:1650] [KO:K12670] (CDG-Is) ALG13 [HSA:79868] [KO:K07432] (CDG-It) PGM1 [HSA:5236] [KO:K01835] (CDG-Iu) DPM2 [HSA:8818] [KO:K09658] (CDG-Iv) NGLY1 [HSA:55768] [KO:K01456] (CDG-Iw) STT3A [HSA:3703] [KO:K07151] (CDG-Ix) STT3B [HSA:201595] [KO:K07151] (CDG-Iy) SSR4 [HSA:6748] [KO:K04571] (CDG-Iaa) NUS1 [HSA:116150] [KO:K19177] (CDG-Ibb) DHDDS [HSA:79947] [KO:K11778] (CDG-Icc) MAGT1 [HSA:84061] [KO:K19478] |
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H00137 | Niemann-Pick disease type A/B | ... including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types A and B NPD are likely due to small differences in the amount of residual, functional ASM activity. | Inherited metabolic disorder, Lysosomal disease | SMPD1 [HSA:6609] [KO:K12350] | |
H00233 |
MYH9-related disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) |
... share the triad of thrombocytopenia, large platelets and characteristic leukocyte inclusions (Dohle-like bodies). Epstein syndrome is clinically identical to FTNS, except Dohle-like bodies have not been ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] | |
H00265 | Hereditary sensory and autonomic neuropathy | Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous group of disorders of low prevalence. They are characterized by neuronal atrophy and degeneration, predominantly ... | Nervous system disease |
(HSAN1/HSN1A) SPTLC1 [HSA:10558] [KO:K00654] (HSAN1C) SPTLC2 [HSA:9517] [KO:K00654] (HSAN2A) WNK1 [HSA:65125] [KO:K08867] (HSAN2B) FAM134B [HSA:54463] [KO:K23880] (HSAN2C) KIF1A [HSA:547] [KO:K10392] (HSAN2D) SCN9A [HSA:6335] [KO:K04841] (HSAN3) IKBKAP [HSA:8518] [KO:K11373] (HSAN4) NTRK1 [HSA:4914] [KO:K03176] (HSAN5) NGFB [HSA:4803] [KO:K02582] (HSAN6) DST [HSA:667] [KO:K10382] (HSAN7) SCN11A [HSA:11280] [KO:K04843] (HSAN8) PRDM12 [HSA:59335] [KO:K24255] (HSAN9) TECPR2 [HSA:9895] [KO:K23881] (HSN1D) ATL1 [HSA:51062] [KO:K17339] (HSN1E) DNMT1 [HSA:1786] [KO:K00558] (HSN1F) ATL3 [HSA:25923] [KO:K17339] |
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H00280 | Enterotoxigenic Escherichia coli (ETEC) infection | ... countries and an important etiologic agent for traveler's diarrhea. ETEC strains colonize the small intestine, secrete heat-labile (cholera toxin-like) and heat-stable enterotoxins, and cause watery diarrhea. | Bacterial infectious disease | ||
H00287 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | ... Patients typically develop cystic acne, abscesses and cutaneous ulcers, including pyoderma gangrenosum-like lesions. PAPA syndrome is caused by gain-of function mutations in PSTPIP1, a protein capable of associating ... | Immune system disease | PSTPIP1 [HSA:9051] [KO:K12804] | |
H00288 |
Familial Mediterranean fever Familial hereditary periodic fever syndromes |
... recurrent inflammatory fevers with sterile peritonitis, pleuritis, arthritis, myalgia and erysipelas-like skin lesions. Renal amyloidosis is the most severe complication, leads to renal failure. These symptoms ... | Immune system disease | MEFV [HSA:4210] [KO:K12803] | |
H00310 | Q fever | ... in humans is often asymptomatic, but may appear either in an acute form accompanied mainly by fever (self-limited flu-like disease, pneumonia, or hepatitis) or in a chronic form (mainly endocarditis). | Bacterial infectious disease | ||
H00311 |
Legionellosis Legionnaires disease |
... Pontiac fever, with a shorter incubation period of 1-2 days, which is an acute, self-limited, influenza-like disease that does not cause pneumonia. Patients who are at risk for infection include the immunosuppressed ... | Bacterial infectious disease | hsa05134 Legionellosis | TLR5 [HSA:7100] [KO:K10168] |
H00333 | Streptococcal infection | ... 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, and meningitis | Bacterial 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 | ||
H00400 | Parainfluenza infection | ... most common causes of pediatric lower respiratory tract disease leading to hospitalization after respiratory syncytial virus. It can cause repeated infections throughout life, causing flu-like illness. | Viral infectious disease | ||
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 | ||
H00420 | Familial partial lipodystrophy | ... However, it is not yet known how these genes cause the disorder. Besides them, additional loci are likely as many FPL patients do not reveal any mutations in these genes. LMNA mutations may affect nuclear ... | 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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H00452 |
Buschke-Ollendorff syndrome Osteopoikilosis |
Buschke-Ollendorff syndrome (BOS), also known as Osteopoikilosis, is a disorders characterized by increased bone density. Loss-of-function mutations in LEMD3, which encodes an inner nuclear membrane protein ... | Congenital malformation | LEMD3 [HSA:23592] [KO:K19410] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |