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Entry | Name | Description | Category | Pathway | Gene |
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H00007 | Hodgkin lymphoma | ... mediated by diverse mechanisms: receptor signalling through CD40, RANK, BCMA, and TACI, genomic REL amplification, destructive mutations in IKBA and IKBE. In HL pathogenesis associated with Epstein-Barr ... | 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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H00009 | Adult T-cell leukemia | ... need Tax expression in the later stage of leukemogenesis. Genetic and epigenetic changes should be implicated in such multistep leukemogenesis. Regarding genetic changes, mutation of p53, and deletion ... | Cancer; Viral infectious disease | hsa05166 Human T-cell leukemia virus 1 infection |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (deletion, promoter methylation) [HSA:1029] [KO:K06621] Fas (mutation) [HSA:355] [KO:K04390] |
H00013 | Small cell lung cancer | ... as p53, PTEN, RB, and FHIT. The overexpression of MYC proteins in SCLC is largely a result of gene amplification. Such overexpression leads to more rapid proliferation and loss of terminal differentiation ... | Cancer | hsa05222 Small cell lung cancer |
MYC (amplification) [HSA:4609] [KO:K04377] BCL2 (overexpression) [HSA:596] [KO:K02161] FHIT [HSA:2272] [KO:K01522] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] PTEN [HSA:5728] [KO:K01110] PPP2R1B [HSA:5519] [KO:K03456] |
H00014 | Non-small cell lung cancer | ... proliferation and reduced apoptosis. The protein encoded by the p16INK4a inhibits formation of CDK-cyclin-D complexes by competitive binding of CDK4 and CDK6. Loss of p16INK4a expression is a common feature of NSCLC ... | 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] |
H00015 | Malignant pleural mesothelioma | ... largely proved by epidemiological and experimental studies. Recently, simian virus 40 (SV40) has been implicated in the aetiology of MPM. The accumulation of numerous clonal chromosomal deletions in most ... | Cancer |
p53 (inactivation) [HSA:7157] [KO:K04451] p16/CDKN2A (deletion) [HSA:1029] [KO:K06621] p15/CDKN2B (deletion) [HSA:1030] [KO:K04685] NF2 (mutation) [HSA:4771] [KO:K16684] PDGF-A (overexpression) [HSA:5154] [KO:K04359] PDGF-B (overexpression) [HSA:5155] [KO:K17386] IGF-1 (expression) [HSA:3479] [KO:K05459] IGF-R1 (expression) [HSA:3480] [KO:K05087] |
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H00016 | Oral cancer | Oral cancer refers to a subgroup of head and neck malignancies that develop at the lips, tongue, salivary glands, gingiva, floor of the mouth, oropharynx, buccal surfaces and other intra-oral locations ... | Cancer |
p53 (mutation, deletion) [HSA:7157] [KO:K04451] p16/INK4A (mutation, loss of expression) [HSA:1029] [KO:K06621] EGFR (overexpression) [HSA:1956] [KO:K04361] c-myc/N-myc (amplification, overexpression) [HSA:4609] [KO:K04377] N-ras (amplification) [HSA:4893] [KO:K07828] K-ras (amplification) [HSA:3845] [KO:K07827] Cyclin D1 (amplification) [HSA:595] [KO:K04503] STAT-3 (expression) [HSA:6774] [KO:K04692] |
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H00017 | Esophageal cancer | ... duodenal-gastric-esophageal reflux. In the process of tumorigenesis at the cellular level, multiple genetic alterations are involved, including mutation of the p53 gene, amplification of cyclin D1 gene, among others. | 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 adenomas furthermore display mutations in the APC gene, reduced p27 expression and cyclin E amplification. In addition, amplification and overexpression of c-ErbB2, reduced TGF-beta receptor type ... | 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] |
H00023 | Testicular cancer | Testicular germ cell tumor (TGCT) comprises about 98% of all testicular neoplasms and is thereby the most common malignancy among young males. Overall, three different entities of TGCT can be distinguished: ... | Cancer |
CCND2 (amplification) [HSA:894] [KO:K10151] FGFR3 [HSA:2261] [KO:K05094] KIT [HSA:3815] [KO:K05091] STK11 [HSA:6794] [KO:K07298] |
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H00024 | Prostate cancer | ... cause of male cancer deaths. The identification of key molecular alterations in prostate-cancer cells implicates carcinogen defenses (GSTP1), growth-factor-signaling pathways (NKX3.1, PTEN, and p27), and ... | Cancer | hsa05215 Prostate cancer |
AR (amplification, mutation) [HSA:367] [KO:K08557] CDKN1B (allelic loss) [HSA:1027] [KO:K06624] NKX3.1 (allelic loss) (decreased expression) [HSA:4824] [KO:K09348] PTEN (allelic loss) [HSA:5728] [KO:K01110] GSTP1 (hypermethylation) [HSA:2950] [KO:K23790] TMPRSS2-ERG (translocation) [HSA:2078] [KO:K09435] TMPRSS2-ETV1 (translocation) [HSA:2115] [KO:K09431] TMPRSS2-ETV4 (translocation) [HSA:2118] [KO:K15592] TMPRSS2-ETV5 (translocation) [HSA:2119] [KO:K15593] SLC45A3-ETV1 (translocation) [HSA:2115] [KO:K09431] SLC45A3-ELK4 (translocation) [HSA:2005] [KO:K04376] DDX5-ETV4 (translocation) [HSA:2118] [KO:K15592] MAD1L1 (somatic mutation) [HSA:8379] [KO:K06679] KLF6 (somatic mutation) [HSA:1316] [KO:K09207] MXI1 (somatic mutation) [HSA:4601] [KO:K09114] ZFHX3 (somatic mutation) [HSA:463] [KO:K09378] |
H00026 | Endometrial cancer | ... their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification. | Cancer | hsa05213 Endometrial cancer |
ERBB2 (amplification) [HSA:2064] [KO:K05083] PTEN (mutation, deletions, methylation) [HSA:5728] [KO:K01110] MLH1 (mutation, methylation) [HSA:4292] [KO:K08734] KRAS [HSA:3845] [KO:K07827] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] MSH3 [HSA:4437] [KO:K08736] CDH1 [HSA:999] [KO:K05689] |
H00027 | Ovarian cancer | Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian ... | 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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H00028 | Choriocarcinoma | ... malignant epithelial tumor that can be associated with any type of gestational event, most often a complete hydatidiform mole (CM). CM occur in about one per 1000 pregnancies, and about 5-20% of CM progress ... | Cancer |
p53 (overexpression) [HSA:7157] [KO:K04451] MdM2 (overexpression) [HSA:4193] [KO:K06643] EGFR (overexpression) [HSA:1956] [KO:K04361] c-MYC (overexpression) [HSA:4609] [KO:K04377] ERBB2 (overexpression) [HSA:2064] [KO:K05083] c-FMS (overexpression) [HSA:1436] [KO:K05090] Bcl-2 (overexpression) [HSA:596] [KO:K02161] MMP-1 (overexpression) [HSA:4312] [KO:K01388] MMP-2 (overexpression) [HSA:4313] [KO:K01398] |
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H00030 | Cervical cancer | ... abnormalities in other cellular genes found in cervical cancer, including mutations in ras family of genes, and amplification in EGFR and ERBB2, may also play an important role in carcinogenesis and the aggressiveness ... | Cancer |
K-ras (mutation) [HSA:3845] [KO:K07827] H-ras (mutation) [HSA:3265] [KO:K02833] EGFR (amplification) [HSA:1956] [KO:K04361] ERBB2 (amplification) [HSA:2064] [KO:K05083] p21 (overexpression) [HSA:1026] [KO:K06625] CDK4 (overexpression) [HSA:1019] [KO:K02089] Bcl-2 (overexpression) [HSA:596] [KO:K02161] |
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H00031 | Breast cancer | Breast cancer is the leading cause of cancer death among women worldwide. The vast majority of breast cancers are carcinomas that originate from cells lining the milk-forming ducts of the mammary gland ... | 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] |
H00036 | Osteosarcoma | ... distal femur, proximal tibia, and proximal humerus representing the three most common sites. Genomic amplification, especially of both the p53-binding MDM2 gene and the flanking SAS gene, plays an important ... | Cancer |
MDM2 (amplification) [HSA:4193] [KO:K06643] TSPAN31 (amplification) [HSA:6302] [KO:K17356] MYC (amplification) [HSA:4609] [KO:K04377] TP53 [HSA:7157] [KO:K04451] RB1 [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] CDKN2B [HSA:1030] [KO:K04685] CHEK2 [HSA:11200] [KO:K06641] |
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H00037 | Rhabdomyosarcoma | Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those ... | 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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H00038 | Melanoma | ... kinases 4 and 6/retinoblastoma protein (p16INK4a/CDK4,6/pRb) and p14ARF/human double minute 2/p53 (p14ARF/HMD2/p53) tumor suppressor pathways. MITF and TP53 are implicated in further melanoma progression. | Cancer | hsa05218 Melanoma |
(CMM2) CDKN2A [HSA:1029] [KO:K06621] (CMM3) CDK4 [HSA:1019] [KO:K02089] (CMM5) MC1R [HSA:4157] [KO:K04199] (CMM6) XRCC3 [HSA:7517] [KO:K10880] (CMM8) MITF (amplification) [HSA:4286] [KO:K09455] (CMM9) TERT [HSA:7015] [KO:K11126] (CMM10) POT1 [HSA:25913] [KO:K11109] BRAF [HSA:673] [KO:K04365] STK11 [HSA:6794] [KO:K07298] NRAS [HSA:4893] [KO:K07828] PTEN [HSA:5728] [KO:K01110] TP53 [HSA:7157] [KO:K04451] |
H00042 | Glioma | ... astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas), mixtures of various glial cells (for example,oligoastrocytomas) and ependymal cells (ependymomas). The most malignant form of infiltrating astrocytoma ... | Cancer | hsa05214 Glioma |
(GLM1) IDH1 [HSA:3417] [KO:K00031] (GLM1) TP53 [HSA:7157] [KO:K04451] (GLM1) ERBB2 [HSA:2064] [KO:K05083] (GLM2) PTEN [HSA:5728] [KO:K01110] (GLM3) BRCA2 [HSA:675] [KO:K08775] (GLM9) POT1 [HSA:25913] [KO:K11109] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361] MDM2 (amplification, overexpression) [HSA:4193] [KO:K06643] CDK4 (amplification) [HSA:1019] [KO:K02089] PDGFA (overexpression) [HSA:5154] [KO:K04359] PDGFB (overexpression) [HSA:5155] [KO:K17386] PDGFRA (overexpression, amplification) [HSA:5156] [KO:K04363] PDGFRB (overexpression, amplification) [HSA:5159] [KO:K05089] RB1 (loss) [HSA:5925] [KO:K06618] CDKN2A [HSA:1029] [KO:K06621] |
H00043 | Neuroblastoma | ... characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene. They might also express the TrkB neurotrophin receptor and its ... | 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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H00046 | Cholangiocarcinoma | ... genetic alterations are associated with a more aggressive phenotype in this cancer. Many reports have implicated overexpression of the tyrosine kinase proto-oncogenes c-erbB-2 (HER-2/neu) and c-Met, as well ... | Cancer |
K-ras (mutation) [HSA:3845] [KO:K07827] p53 (mutation) [HSA:7157] [KO:K04451] c-Met (overexpression) [HSA:4233] [KO:K05099] ERBB2 (overexpression, amplification) [HSA:2064] [KO:K05083] p16/INK4A (mutation) [HSA:1029] [KO:K06621] COX2 (overexpression) [HSA:5743] [KO:K11987] |
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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] |
H00051 | Alveolar soft part sarcoma | ... enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor. | Cancer | ASPSCR1-TFE3 (translocation) [HSA:79058 7030] [KO:K15627 K09105] | |
H00055 | Laryngeal cancer | ... each), oncogenic activation is less well characterized. Cyclin D1 and epidermal growth factor receptor amplification have been reported in one-third and one-quarter of LSCCs, respectively, both related to ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation, LOH, hypermethylation) [HSA:1029] [KO:K06621] Cyclin D1 (amplification) [HSA:595] [KO:K04503] EGFR (amplification) [HSA:1956] [KO:K04361] c-MYC (amplification) [HSA:4609] [KO:K04377] Cyclin E (amplification) [HSA:898 9134] [KO:K06626] |
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H00061 |
Prion disease Creutzfeldt-Jacob disease (CJD) Gerstmann-Straussler disease (GSD) Gerstmann-Straussler-Scheinker disease (GSSD) Fatal familial insomnia (FFI) |
... PrPC, into an infectious, pathogenic form, PrPSc. The conversion is induced by prion infections (for example, variant Creutzfeldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Scheinker ... | Neurodegenerative disease | hsa05020 Prion disease | PRNP (mutation) [HSA:5621] [KO:K05634] |
H00066 |
Lewy body dementia (LBD) Dementia with Lewy bodies (DLB) |
... factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase 2 (LRRK2) and the glucocerebrosidase (GBA) gene have also been implicated in familial DLB. | Neurodegenerative disease |
SNCA (mutation, triplication) [HSA:6622] [KO:K04528] SNCB (mutation) [HSA:6620] [KO:K24201] LRRK2 (mutation) [HSA:120892] [KO:K08844] GBA (mutation) [HSA:2629] [KO:K01201] |
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H00072 | Pyruvate dehydrogenase complex deficiency | Pyruvate dehydrogenase complex deficiency is an autosomal or X-linked recessive disorder caused by deficient enzyme activity in the pyruvate dehydrogenase complex, resulting in deficiency of acetyl CoA ... | Inherited metabolic disorder |
(PDHAD) PDHA1 [HSA:5160] [KO:K00161] (PDHBD) PDHB [HSA:5162] [KO:K00162] (PDHDD) DLAT [HSA:1737] [KO:K00627] (PDHPD) PDP1 [HSA:54704] [KO:K01102] (PDHXD) PDHX [HSA:8050] [KO:K13997] (DLDD) DLD [HSA:1738] [KO:K00382] |
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H00076 | Cockayne syndrome | ... neurological degeneration. CS has thus been classified as a segmental premature-aging syndrome. Two complementation groups (CSA and CSB) have been identified so far in CS cases. CSA caused by mutation in ... | Neurodegenerative disease |
(CSA) ERCC8 [HSA:1161] [KO:K10570] (CSB) ERCC6 [HSA:2074] [KO:K10841] (XPB/CS) ERCC3 [HSA:2071] [KO:K10843] (XPF/CS) ERCC4 [HSA:2072] [KO:K10848] (XPG/CS) ERCC5 [HSA:2073] [KO:K10846] |
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H00078 | Frontotemporal lobar degeneration | ... being a relatively selective degeneration of the frontal and temporal lobes. Multiple genes have been implicated in FTLD including microtubule associate protein tau (MAPT), progranulin (PGRN),Valosin-containing ... | Neurodegenerative disease |
(Pick disease/ FTD) MAPT [HSA:4137] [KO:K04380] (Pick disease/ FTD) PSEN1 [HSA:5663] [KO:K04505] (FTLDU) GRN [HSA:2896] [KO:K23879] |
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H00079 | Asthma | Asthma is a complex syndrome with many clinical phenotypes in both adults and children. Its major characteristics include a variable degree of airflow obstruction, bronchial hyperresponsiveness, and airway ... | Immune system disease | hsa05310 Asthma |
IL4 [HSA:3565] [KO:K05430] IL4RA [HSA:3566] [KO:K05071] IL13 [HSA:3596] [KO:K05435] FCER1B [HSA:2206] [KO:K08090] TNFA [HSA:7124] [KO:K03156] ADAM33 [HSA:80332] [KO:K08616] CD14 [HSA:929] [KO:K04391] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] HLA-G [HSA:3135] [KO:K06751] ADRB2 [HSA:154] [KO:K04142] ALOX5 [HSA:240] [KO:K00461] CCL11 [HSA:6356] [KO:K16597] MUC7 [HSA:4589] [KO:K13909] PLA2G7 [HSA:7941] [KO:K01062] SCGB3A2 [HSA:117156] [KO:K25469] (ASRT1) PTGDR [HSA:5729] [KO:K04332] (ASRT2) NPSR1 [HSA:387129] [KO:K08376] (ASRT5) IRAK3 [HSA:11213] [KO:K04732] (ASRT7) CHI3L1 [HSA:1116] [KO:K17523] |
H00080 | Systemic lupus erythematosus | ... The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited ... | Immune system disease | hsa05322 Systemic lupus erythematosus |
(SLE) PTPN22 [HSA:26191] [KO:K18024] (SLE) FCGR2A [HSA:2212] [KO:K06472] (SLE) FCGR2B [HSA:2213] [KO:K12560] (SLE) CTLA4 [HSA:1493] [KO:K06538] (SLE) TREX1 [HSA:11277] [KO:K10790] (SLE) DNASE1 [HSA:1773] [KO:K11994] (SLEB1) TLR5 [HSA:7100] [KO:K10168] (SLEB2) PDCD1 [HSA:5133] [KO:K06744] (SLEB9) CR2 [HSA:1380] [KO:K04012] (SLEB10) IRF5 [HSA:3663] [KO:K09446] (SLEB11) STAT4 [HSA:6775] [KO:K11222] (SLEB16) DNASE1L3 [HSA:1776] [KO:K11995] (SLEB17) TLR7 [HSA:51284] [KO:K05404] HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DQA1 [HSA:3117] [KO:K06752] HLA-DQB1 [HSA:3119] [KO:K06752] C2 [HSA:717] [KO:K01332] C4A [HSA:720] [KO:K03989] TNF [HSA:7124] [KO:K03156] FCGR3A [HSA:2214] [KO:K06463] FCGR3B [HSA:2215] [KO:K06463] CRP [HSA:1401] [KO:K16143] ZNF423 [HSA:23090] [KO:K22870] |
H00081 | Hashimoto thyroiditis | ... genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide ... | Immune system disease | CTLA4 [HSA:1493] [KO:K06538] | |
H00082 | Graves disease | ... genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies and genome-wide ... | Immune system disease | ||
H00084 | Graft-versus-host disease | Graft-versus-host disease (GVHD) is a lethal complication of allogeneic hematopoietic stem cell transplantation (HSCT) where immunocompetent donor T cells attack the genetically disparate host cells. GVHD ... | 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] |
H00089 |
IFN-gamma/IL-12 axis Mendelian susceptibility to mycobacterial disease (MSMD) |
... beta 1 are milder clinically and can be treated with IFN-gamma because that receptor is still intact. Complete recessive mutations in STAT1 are more severe than any of the others because they affect both IFN-gamma ... | 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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H00102 | Classic complement pathway component defects | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... | 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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H00103 | Late complement pathway defects | Late complement component (the final common pathway C5b-C9 components) deficiencies (LCCDs) are all inherited in an autosomal recessive manner. In all cases, homozygous recessive patients have greatly ... | Primary immunodeficiency |
(C5D) C5 [HSA:727] [KO:K03994] (C6D) C6 [HSA:729] [KO:K03995] (C7D) C7 [HSA:730] [KO:K03996] (C8D1) C8A [HSA:731] [KO:K03997] (C8D2) C8B [HSA:732] [KO:K03998] (C9D) C9 [HSA:735] [KO:K04000] C8G [HSA:733] [KO:K03999] |
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H00104 | Alternative complement pathway component defects | The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... | Primary immunodeficiency |
(CFBD) CFB [HSA:629] [KO:K01335] (CFDD) CFD [HSA:1675] [KO:K01334] (CFHD) CFH [HSA:3075] [KO:K04004] (CFPD) CFP [HSA:5199] [KO:K15412] |
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H00105 |
Mannose-binding lectin pathway component defects Lectin complement activation pathway, defect in (LCAPD) |
There is an increasing number of clinical studies indicating that deficiency of the lectin pathway has been associated with an increased risk, severity, and frequency of infections but also autoimmune ... | Primary immunodeficiency |
(LCAPD1) MBL2 [HSA:4153] [KO:K03991] (LCAPD2) MASP2 [HSA:10747] [KO:K03993] (LCAPD3) FCN3 [HSA:8547] [KO:K10104] |
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H00106 | Complement regulatory protein defects | To prevent undesirable complement activation, host tissues express a number of complement regulatory proteins (CRPs). They include C1 inhibitor (C1-INH, also termed SERPING1), C4 binding protein (C4BP) ... | 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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |