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Entry | Name | Description | Category | Pathway | Gene |
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H00017 | Esophageal cancer | Esophageal cancer represents the 9th leading cancer in the world and is associated with a 5-year survival rate under 25%. The two main forms are squamous-cell carcinoma (ESCC) and adenocarcinoma (EAC) ... | 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 | ... receptor beta (RAR-beta) and hTERT expression. Gastric adenomas furthermore display mutations in the APC gene, reduced p27 expression and cyclin E amplification. In addition, amplification and overexpression ... | 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] |
H00020 | Colorectal cancer | ... involve the activation of oncogenes such as K-ras and inactivation of TSG such as p53, DCC/Smad4, and APC. The second, known as microsatellite instability (MSI), results from inactivation of the DNA mismatch ... | 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] |
H00044 | Cancer of the anal canal | ... persistent HPV infection within the anal canal. Current data suggest that mutations in p53, DCC and APC tumor suppressor genes contribute to the stepwise progression of anal squamous cell carcinoma in ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] DCC (mutation) [HSA:1630] [KO:K06765] APC (mutation) [HSA:324] [KO:K02085] |
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H00047 | Gallbladder cancer | Gallbladder cancer (GBC) is a relatively uncommon neoplasm, however its prognosis is poor with less than a 5% 5-year survival rate. There are considerable geographic differences in its incidence and etiology ... | Cancer |
p53 (mutation) [HSA:7157] [KO:K04451] p16/INK4A (mutation) [HSA:1029] [KO:K06621] K-ras (mutation) [HSA:3845] [KO:K07827] APC (mutation) [HSA:324] [KO:K02085] |
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H00079 | Asthma | ... hyperresponsiveness, and airway inflammation. Inhaled allergens encounter antigen presenting cells (APC) that line the airway. Upon recognition of the antigen and activation by APC, naive T cells differentiate ... | 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] |
H00083 | Allograft rejection | ... In contrast, donor MHC molecules (and all other proteins) shed from the graft can be taken up by host APCs and presented to recipient T cells in the context of self-MHC molecules - the indirect pathway. ... | 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] |
H00084 | Graft-versus-host disease | ... interleukin 1 (IL-1), and tumor necrosis factor (TNF-alpha ). During step 2, antigen-presenting cells (APCs) trigger the activation of donor-derived T cells, which induce further T-cell expansion, induce ... | 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] |
H00126 | Gaucher disease | Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase ... | Inherited metabolic disorder, Lysosomal disease |
(GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201] (GDSAPC) PSAP [HSA:5660] [KO:K12382] |
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H00718 | Sotos syndrome | Overgrowth syndromes are a heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome ... | Congenital malformation |
(SOTOS1) NSD1 [HSA:64324] [KO:K15588] (SOTOS2) NFIX [HSA:4784] [KO:K09171] (SOTOS3) APC2 [HSA:10297] [KO:K02085] |
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H00768 |
Autosomal recessive intellectual developmental disorder Autosomal recessive mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... | Mental and behavioural disorder |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] |
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H00786 | Hypotrichosis | Hypotrichosis (HYPT) is a non-syndromic hair loss that includes hereditary hypotrichosis simplex (HHS), localized autosomal recessive hypotrichosis (LAH), and Marie-Unna hereditary hypotrichosis (MUHH) ... | Skin disease |
(HYPT1) APCDD1 [HSA:147495] [KO:K25812] (HYPT2) CDSN [HSA:1041] [KO:K23457] (HYPT3) KRT74 [HSA:121391] [KO:K07605] (HYPT4) HRURF [HSA:120766137] (HYPT4/MUHH1) HR [HSA:55806] [KO:K00478] (HYPT5/MUHH2) EPS8L3 [HSA:79574] [KO:K17277] (HYPT6/LAH1) DSG4 [HSA:147409] [KO:K07599] (HYPT7/LAH2) LIPH [HSA:200879] [KO:K19404] (HYPT8/LAH3) LPAR6 [HSA:10161] [KO:K04273] (HYPT11) SNRPE [HSA:6635] [KO:K11097] (HYPT12) RPL21 [HSA:6144] [KO:K02889] (HYPT13) KRT71 [HSA:112802] [KO:K07605] (HYPT14) LSS [HSA:4047] [KO:K01852] (HYPT15) C3orf52 [HSA:79669] [KO:K26953] |
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H01025 | Familial adenomatous polyposis | ... appearance of the polyps. The genetic defect in FAP is a germline mutation in the adenomatous polyposis coli (APC) gene. In a subset of individuals, a MUTYH mutation causes a recessively inherited polyposis condition | Neoplasm |
(FAP1) APC [HSA:324] [KO:K02085] (FAP2) MUTYH [HSA:4595] [KO:K03575] (FAP3) NTHL1 [HSA:4913] [KO:K10773] (FAP4) MSH3 [HSA:4437] [KO:K08736] |
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H01667 | Medulloblastoma | Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... | Cancer |
PTCH1 [HSA:5727] [KO:K06225] PTCH2 [HSA:8643] [KO:K11101] ELP1 [HSA:8518] [KO:K11373] SUFU [HSA:51684] [KO:K06229] SMO [HSA:6608] [KO:K06226] AXIN1 [HSA:8312] [KO:K02157] AXIN2 [HSA:8313] [KO:K04385] APC [HSA:324 10297] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] NF2 [HSA:4771] [KO:K16684] MEN1 [HSA:4221] [KO:K14970] KDM6A [HSA:7403] [KO:K11447] MYC (amplification) [HSA:4609] [KO:K04377] OTX2 (amplification) [HSA:5015] [KO:K18490] TERT (amplification) [HSA:7015] [KO:K11126] MDM2 (amplification) [HSA:4193] [KO:K06643] |
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H01734 | Rothmund-Thomson syndrome | ... short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined ... | Congenital malformation |
(RTS1) ANAPC1 [HSA:64682] [KO:K03348] (RTS2) RECQL4 [HSA:9401] [KO:K10730] (RTS3) CRIPT [HSA:9419] [KO:K24826] (RTS4) DNA2 [HSA:1763] [KO:K10742] |
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H01803 | Pulmonary atresia with ventricular septal defect | ... pulmonary arteries is provided by a patent arterial duct or by major aorto pulmonary collateral arteries (MAPCAs). Two-thirds of the cases with pulmonary atresia are associated with MAPCAs, which can vary greatly ... | Congenital malformation | ||
H01881 | Complex cortical dysplasia with other brain malformations | Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... | Congenital malformation |
(CDCBM1) TUBB3 [HSA:10381] [KO:K07375] (CDCBM2) KIF5C [HSA:3800] [KO:K10396] (CDCBM3) KIF2A [HSA:3796] [KO:K10393] (CDCBM4) TUBG1 [HSA:7283] [KO:K10389] (CDCBM5) TUBB2A [HSA:7280] [KO:K07375] (CDCBM6) TUBB [HSA:203068] [KO:K07375] (CDCBM7) TUBB2B [HSA:347733] [KO:K07375] (CDCBM9) CTNNA2 [HSA:1496] [KO:K05691] (CDCBM10) APC2 [HSA:10297] [KO:K02085] (CDCBM11) KIF26A [HSA:26153] [KO:K10404] (CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493] (CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413] |
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H02049 | Bilateral macronodular adrenal hyperplasia | ... pathway or genes causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH ... | Endocrine and metabolic disease |
ARMC5 [HSA:79798] [KO:K22499] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] GNAS1 [HSA:2778] [KO:K04632] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
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H02302 | Hepatoblastoma | ... activated often by acquired activating mutations of the beta-catenin (CTNNB1) gene, and less commonly through constitutional mutations of the APC gene or somatic mutations of other genes in the pathway. | Cancer |
CTNNB1 (mutation) [HSA:1499] [KO:K02105] APC (mutation) [HSA:324] [KO:K02085] AXIN2 (mutation) [HSA:8313] [KO:K04385] |
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H02397 | Neurodevelopmental disorder with movement abnormalities or hypotonia | Neurodevelopmental disorder (NED) with movement abnormalities or hypotonia is a group of syndromic neurodevelopmental disorders. Some of them have complications in addition to movement abnormalities or ... | Congenital malformation |
(NEDMAGA) ZSWIM6 [HSA:57688] [KO:K25704] (NEDBASH) NTNG2 [HSA:84628] [KO:K16359] (NEDIMAE) SYT1 [HSA:6857] [KO:K15290] (NEDHAHM) VAMP2 [HSA:6844] [KO:K13504] (NEDHRIT) RALGAPA1 [HSA:253959] [KO:K25768] (NEDHFBA) PPP1R21 [HSA:129285] [KO:K17562] (NEDHYBA) CLCN3 [HSA:1182] [KO:K05012] (NEDDISH) MADD [HSA:8567] [KO:K26162] (NEDCHF) HDAC4 [HSA:9759] [KO:K11406] (NEDEMA) FRMD5 [HSA:84978] [KO:K23969] (NEDHFS) PGM2L1 [HSA:283209] [KO:K11809] (NEDHSS) EIF4A2 [HSA:1974] [KO:K03257] (NEDSTO) TNR [HSA:7143] [KO:K06252] (NEDSIS) CACNA1I [HSA:8911] [KO:K04856] (NEDIHSS) ESAM [HSA:90952] [KO:K06787] (NEDNMS) NRCAM [HSA:4897] [KO:K06756] (NEDRSO) SNAPC4 [HSA:6621] [KO:K09453] (NEDMSF) PUM1 [HSA:9698] [KO:K17943] (NEDHBA) SLC4A10 [HSA:57282] [KO:K13861] (NEDHLSS) CACNA1C [HSA:775] [KO:K04850] (NEDHCAS) PIGK [HSA:10026] [KO:K05290] (NEDDS) SHQ1 [HSA:55164] [KO:K14764] (NEDHYD) ADCY5 [HSA:111] [KO:K08045] (NEDNEH) CACNA1B [HSA:774] [KO:K04849] (NEDHELS) DEAF1 [HSA:10522] [KO:K23041] (NEDHCS) SNIP1 [HSA:79753] [KO:K13108] (NEDPM) ACBD6 [HSA:84320] (NEDHS) OTUD7A [HSA:161725] [KO:K11860] |
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H02584 | Ferguson-Bonni neurodevelopmental syndrome | ... syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex. It ... | Congenital malformation | ANAPC7 [HSA:51434] [KO:K03354] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |