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Entry | Name | Description | Category | Pathway | Gene |
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H00002 |
T-cell acute lymphoblastic leukemia T-cell acute lymphocytic leukemia |
... translocation and aberrant expression of transcription factor oncogenes. These oncogenic transcription factors include T-cell leukaemia homeobox protein 1 (TLX1 also known as HOX11), TLX3 (HOX11L2), LYL1, TAL1 and ... | Cancer |
NOTCH1 (mutation) [HSA:4851] [KO:K02599] TAL1 (overexpression) [HSA:6886] [KO:K09068] TAL2 [HSA:6887] [KO:K09068] LYL1 (expression) [HSA:4066] [KO:K15604] MLL-ENL (translocation) [HSA:4297] [KO:K09186] HOX11 (translocation) [HSA:3195] [KO:K09340] MYC (translocation) [HSA:4609] [KO:K04377] LMO2 (translocation) [HSA:4005] [KO:K15612] HOX11L2 (translocation) [HSA:30012] [KO:K15607] PICALM-MLLT10 (translocation) [HSA:8028] [KO:K23588] |
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H00004 | Chronic myeloid leukemia | ... of a molecular rearrangement between the c-ABL proto-oncogene on chromosome 9 and the BCR (breakpoint cluster region) gene on chromosome 22. The BCR/ABL fusion gene encodes p210 BCR/ABL, an oncoprotein, ... | 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] |
H00009 | Adult T-cell leukemia | ... protein of the virus. Tax may contribute to the process of carcinogenesis by a variety of mechanisms, including upregulating the expression of cellular genes involved in T cell growth and proliferation, including ... | 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] |
H00010 | Multiple myeloma | ... and deletions of 13q14, the site of a putative tumor suppressor gene. Additional molecular events include epigenetic changes and activation of oncogenes (mutations of N-RAS and K-RAS, and changes in c-MYC) ... | Cancer |
CCND1-IgH (translocation) [HSA:595] [KO:K04503] CCND3-IgH (translocation) [HSA:896] [KO:K10152] IgH-FGFR3 (translocation) [HSA:2261] [KO:K05094] IgH-MMSET (translocation) [HSA:7468] [KO:K11424] IgH-MAF (translocation) [HSA:4094] [KO:K09035] N-ras (activating mutation) [HSA:4893] [KO:K07828] K-ras (activating mutation) [HSA:3845] [KO:K07827] c-MYC (dysregulation) [HSA:4609] [KO:K04377] p53 (mutation) [HSA:7157] [KO:K04451] |
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H00012 | Polycythemia vera | ... hematopoietic precursor cells. PV belongs to the family of chronic myeloproliferative disorders (MPD), which includes hematological diseases that share clinical and biological similarities, such as a hematopoietic ... | Cancer | (PV) JAK2 [HSA:3717] [KO:K04447] | |
H00013 | Small cell lung cancer | ... which accounts for approximately 25% of all lung cancer cases. Molecular mechanisms altered in SCLC include induced expression of oncogene, MYC, and loss of tumorsuppressor genes, such as p53, PTEN, RB, ... | 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 | ... of squamous cell (SCC), adeno (AC) and large-cell carcinoma. Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor ... | 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] |
H00016 | Oral cancer | ... alterations, influenced by a patient's genetic predisposition as well as by environmental influences, including tobacco, alcohol, chronic inflammation, and viral infection. The genetic changes include activation ... | 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 | ... expression are commonly observed in more advanced GC. The main molecular changes observed in diffuse-type GCs include loss of E-cadherin function by mutations in CDH1and amplification of MET and FGFR2F. | 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] |
H00021 | Renal cell carcinoma | ... hypoxia-inducible factor alpha (HIF-alpha) accumulates, leading to production of several growth factors, including vascular endothelial growth factor and platelet-derived growth factor. Activated MET mediates ... | Cancer | hsa05211 Renal cell carcinoma |
PRCC-TFE3 (translocation) [HSA:5546 7030] [KO:K13105 K09105] VHL (germline mutation (VHL disease), somatic mutation) [HSA:7428] [KO:K03871] MET (germline activating mutation (HPRC), somatic activating mutation) [HSA:4233] [KO:K05099] FH (germline loss-of-function mutation (HLPCC), LOH, somatic mutation) [HSA:2271] [KO:K01679] FLCN (germline mutation (Birt-Hogg-Dube syndrome)) [HSA:201163] [KO:K09594] HNF1A [HSA:6927] [KO:K08036] OGG1 [HSA:4968] [KO:K03660] PBRM1 [HSA:55193] [KO:K11757] |
H00022 | Bladder cancer | ... pathways. Invasion and metastases are promoted by several factors that alter the tumour microenvironment, including the aberrant expression of E-cadherins (E-cad), matrix metalloproteinases (MMPs), angiogenic ... | Cancer | hsa05219 Bladder cancer |
H-ras (activating mutation) [HSA:3265] [KO:K02833] FGFR3 (activating mutation) [HSA:2261] [KO:K05094] p16/INK4A (homozygous deletion or hypermethylation) [HSA:1029] [KO:K06621] p53 (inactivating mutation or deletion) [HSA:7157] [KO:K04451] RB1 (deletion or hyperphosphorylation) [HSA:5925] [KO:K06618] EGFR (overexpression) [HSA:1956] [KO:K04361] ERBB2 (overexpression) [HSA:2064] [KO:K05083] RASSF1 (hypermethylation) [HSA:11186] [KO:K09850] DAPK1 (hypermethylation) [HSA:1612] [KO:K08803] |
H00025 | Penile cancer | ... Rb tumor suppressor gene products, respectively. HPV independent mechanisms of pathway inactivation include silencing of the p16INK4a gene by promoter hypermethylation, somatic mutations of the p53 gene ... | Cancer |
p16/INK4a (promoter hypermethylation) [HSA:1029] [KO:K06621] BMI1 (overexpression) [HSA:648] [KO:K11459] p53 (mutation) [HSA:7157] [KO:K04451] MDM2 (overexpression) [HSA:4193] [KO:K06643] H-ras (mutation) [HSA:3265] [KO:K02833] c-MYC (mutation) [HSA:4609] [KO:K04377] E-Cadherin (expression) [HSA:999] [KO:K05689] MMP-2 (expression) [HSA:4313] [KO:K01398] MMP-9 (expression) [HSA:4318] [KO:K01403] COX-2 (expression) [HSA:5743] [KO:K11987] PTGES2 (expression) [HSA:80142] [KO:K05309] |
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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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H00030 | Cervical cancer | ... regulation of growth control. The 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 ... | 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 | ... receptors (estrogen and progesterone subtypes) and human epidermal growth factor receptor-2 (HER2), include: hormone receptor positive and HER2 negative (luminal A subtype), hormone receptor positive and ... | 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] |
H00032 | Thyroid cancer | ... extremely aggressive undifferentiated carcinoma (UC). Somatic rearrangements of RET and TRK are almost exclusively found in PTC and may be found in early stages. The most distinctive molecular features of FTC ... | Cancer | hsa05216 Thyroid cancer |
RET/CCDC6 (rearrangement) [HSA:5979 8030] [KO:K05126 K09288] RET/NCOA4 (rearrangement) [HSA:5979 8031] [KO:K05126 K09289] TPM3/NTRK1 (rearrangement) [HSA:4914 7170] [KO:K03176 K09290] TPR/NTRK1 (rearrangement) [HSA:7175 7170] [KO:K09291 K09290] TFG/NTRK1 (rearrangement) [HSA:10342 7170] [KO:K09292 K09290] PAX8/PPARG (rearrangement) [HSA:7849 5468] [KO:K09293 K08530] KRAS [HSA:3845] [KO:K07827] HRAS [HSA:3265] [KO:K02833] NRAS [HSA:4893] [KO:K07828] BRAF [HSA:673] [KO:K04365] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] CDH1 [HSA:999] [KO:K05689] MINPP1 [HSA:9562] [KO:K03103] (NMTC1) NKX2-1 [HSA:7080] [KO:K09342] (NMTC2) SRGAP1 [HSA:57522] [KO:K07526] (NMTC4) FOXE1 [HSA:2304] [KO:K09398] (NMTC5) HABP2 [HSA:3026] [KO:K08648] |
H00033 | Adrenal carcinoma | ... survival rate to less than 10%. Oncogenes and tumor-suppressor genes involved in adrenal carcinomas include mutations in the p53 tumor-suppressor gene and rearrangements of the chromosomal locus 11p15.5 ... | Cancer |
ACTH-R (deletion) [HSA:4158] [KO:K04200] GNAI2 (mutation) [HSA:2771] [KO:K04630] N-ras (mutation) [HSA:4893] [KO:K07828] IGF II (overexpression) [HSA:3481] [KO:K13769] p53 (LOH, mutation) [HSA:7157] [KO:K04451] p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993] MEN1 (LOH, mutation) [HSA:4221] [KO:K14970] |
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H00042 | Glioma | ... primary brain tumors and account for more than 40% of all central nervous system neoplasms. Gliomas include tumours that are composed predominantly of astrocytes (astrocytomas), oligodendrocytes (oligodendrogliomas) ... | 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 | ... large, aggressive, localized tumors. These unfavorable tumors are characterized by structural changes, including deletions of 1p or 11q, unbalanced gain of 17q and/or amplification of the MYCN protooncogene ... | 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 |
... recurrent mutated genes were found to be highly enriched in multiple key driver signaling processes, including telomere maintenance, TP53, cell cycle regulation, the Wnt/beta-catenin pathway (CTNNB1 and AXIN1) ... | 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] |
H00050 | Synovial sarcoma | ... specific translocation, t(X; 18)(p11.2; q11.2), is found in more than 90% of reported synovial sarcoma, including biphasic, monophasic, and poorly differentiated tumors. The breakpoints of the t(X; 18) have ... | Cancer |
SYT-SSX1 (translocation) [HSA:6756] [KO:K15624] SYT-SSX2 (translocation) [HSA:6757] [KO:K15625] IGF-IR (overexpression) [HSA:3480] [KO:K05087] |
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H00056 |
Alzheimer disease Dementia due to Alzheimer disease |
... genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2), and apolipoprotein E ... | Neurodegenerative disease | hsa05010 Alzheimer disease |
(AD1) APP [HSA:351] [KO:K04520] (AD2) APOE [HSA:348] [KO:K04524] (AD3) PSEN1 [HSA:5663] [KO:K04505] (AD4) PSEN2 [HSA:5664] [KO:K04522] (AD9) ABCA7 [HSA:10347] [KO:K05645] (AD18) ADAM10 [HSA:102] [KO:K06704] |
H00060 | Dentatorubropallidoluysian atrophy (DRPLA) | ... various combinations of clinical symptoms depending on the age of onset. The clinical features of DRPLA include progressive myoclonus, seizure, and mental retardation in patients with an earlier onset (generally ... | Neurodegenerative disease | ATN1 (CAG repeat expansion) [HSA:1822] [KO:K05626] | |
H00065 | Alexander disease | ... neuropathological feature of all forms of Alexander's disease is the presence of Rosenthal fibers which include protein aggregates that contain glial fibrillary acidic protein (GFAP) and small stress proteins ... | Neurodegenerative disease | GFAP (mutation) [HSA:2670] [KO:K05640] | |
H00066 |
Lewy body dementia (LBD) Dementia with Lewy bodies (DLB) |
... system or cortical and subcortical regions, depending on disease subtype. The genetic risk factors include alpha-synuclein mutations and SNCA locus triplication. Mutations of leucine-rich repeat kinase ... | 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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H00070 | Galactosemia | ... enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar. Without treatment, toxic metabolites can cause severe growth problems including cataracts. | Inherited metabolic disorder |
(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785] |
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H00078 | Frontotemporal lobar degeneration | ... 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 protein (VCP) ... | 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 | ... 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 inflammation ... | 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] |
H00084 | Graft-versus-host disease | ... preparative chemotherapy or radiotherapy regimen. Damaged tissues secrete inflammatory cytokines, including interleukin 1 (IL-1), and tumor necrosis factor (TNF-alpha ). During step 2, antigen-presenting ... | 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 | ... patients have mutations in genes encoding components of the pre-B cell receptor (pre-BCR) or BCR, including mu heavy chain (IGHM); the signal transduction molecules Ig-alpha (CD79A) and Ig-beta (CD79B); ... | 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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H00095 | Ectodermal dysplasia and immunodeficiency | ... Clinically, it is characterized by absence, abnormality, or deficient function of ectodermal derivatives, including skin, teeth, hair, eccrine glands, or nails. In the hypohidrotic/ anhidrotic form of ED (HED/EDA) ... | 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 | ... spectrum of infectious diseases, mostly caused by pyogenic encapsulated bacteria, principally, but not exclusively Gram-positive. Recently, other monogenic defects of toll-like receptor signaling that cause ... | 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 | ... (CXCR4). Leukocytes expressing truncated CXCR4 display enhanced responses to the receptor ligand CXCL12, including chemotaxis, which likely impair their trafficking and contribute to the immunohematologic clinical ... | Primary immunodeficiency |
(WHIMS1) CXCR4 [HSA:7852] [KO:K04189] (WHIMS2) CXCR2 [HSA:3579] [KO:K05050] |
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H00106 | Complement regulatory protein defects | ... 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), Factor I, decay accelerating ... | 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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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 ... | 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] |
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H00123 | Mucopolysaccharidosis type IV | ... accumulation of keratan sulfate and chondroitin sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include normal cognition, coarse faces, and dysostosis multiplex. | Inherited metabolic disorder, Lysosomal disease |
(MPS4A) GALNS [HSA:2588] [KO:K01132] (MPS4B) GLB1 [HSA:2720] [KO:K12309] |
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H00130 | Mucopolysaccharidosis type III | ... the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures. | Inherited metabolic disorder, Lysosomal disease |
(MPS3A) SGSH [HSA:6448] [KO:K01565] (MPS3B) NAGLU [HSA:4669] [KO:K01205] (MPS3C) HGSNAT [HSA:138050] [KO:K10532] (MPS3D) GNS [HSA:2799] [KO:K01137] |
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H00134 | X-linked ichthyosis | ... by deficient activity of steroid sulfatase. It is often associated with further clinical problems, including cryptorchidism or social communication deficits, such as attention deficit hyperactivity syndrome ... | Congenital malformation | STS [HSA:412] [KO:K01131] | |
H00137 | Niemann-Pick disease type A/B | ... little or no neurological symptoms, but may have severe and progressive visceral organ abnormalities, including hepatosplenomegaly and cardiovascular disease. The different clinical presentations of Types ... | Inherited metabolic disorder, Lysosomal disease | SMPD1 [HSA:6609] [KO:K12350] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |