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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00002 |
T-cell acute lymphoblastic leukemia T-cell acute lymphocytic leukemia |
... survival, and differentiation during thymocyte development. In this context, constitutive activation of NOTCH1 signaling is the most prominent oncogenic pathway in T cell transformation. In addition, T-ALLs ... | 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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| 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] |
| H00554 |
Aortic valve disease Bicuspid aortic valve |
Aortic valve disease (AOVD), also known as bicuspid aortic valve, is the most common congenital heart defect with strong male predominance. It may arise in isolation or in association with other congenital ... | Congenital malformation |
(AOVD1) NOTCH1 [HSA:4851] [KO:K02599] (AOVD2) SMAD6 [HSA:4091] [KO:K04677] (AOVD3) ROBO4 [HSA:54538] [KO:K06784] |
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| H01272 | Hypoplastic left heart syndrome | ... mitral and aortic valves. There is now strong evidence implicating multiple genetic loci for HLHS. Potential mutations in at least 4 genes, GJA1, NKX2-5, NOTCH1, and HAND1, have been associated with HLHS. | Congenital malformation |
GJA1 [HSA:2697] [KO:K07372] NKX2-5 [HSA:1482] [KO:K09345] HAND1 [HSA:9421] [KO:K09071] |
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| H01413 | Adams-Oliver syndrome | ... and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal ... | Congenital malformation |
(AOS1) ARHGAP31 [HSA:57514] [KO:K20646] (AOS2) DOCK6 [HSA:57572] [KO:K21852] (AOS3) RBPJ [HSA:3516] [KO:K06053] (AOS4) EOGT [HSA:285203] [KO:K18134] (AOS5) NOTCH1 [HSA:4851] [KO:K02599] (AOS6) DLL4 [HSA:54567] [KO:K06051] |
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