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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 hsa05202 Transcriptional misregulation in cancer NOTCH1 (mutation) [HSA:4851] [KO:K02599]
TAL1 (overexpression) [HSA:6886] [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]
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
hsa05206 MicroRNAs in cancer
ESR1 (positive) [HSA:2099] [KO:K08550]
FGFR1 (amplification) [HSA:2260] [KO:K04362]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
PTEN (mutation) [HSA:5728] [KO:K01110]
p53 (mutation) [HSA:7157] [KO:K04451]
CCND1 (amplification) [HSA:595] [KO:K04503]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
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]
BRCA1 (germline mutation, hypermethylation) [HSA:672] [KO:K10605]
BRCA2 (germline mutation) [HSA:675] [KO:K08775]
H00554 Bicuspid aortic valve
Aortic valve disease
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 heart lesions. The bicuspid aortic valve ... Congenital malformation hsa04330 Notch signaling pathway
hsa04350 TGF-beta signaling pathway
NOTCH1 [HSA:4851] [KO:K02599]
SMAD6 [HSA:4091] [KO:K04677]
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 hsa04540 Gap junction GJA1 [HSA:2697] [KO:K07372]
NKX2-5 [HSA:1482] [KO:K09345]
HAND1 [HSA:9421] [KO:K09071]
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 hsa04330 Notch signaling pathway (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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