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Entry Name Description Category Pathway Gene
H00014 Non-small cell lung cancer ... large-cell carcinoma. Molecular mechanisms altered in NSCLC include activation of oncogenes, such as K-RAS, EGFR and EML4-ALK, and inactivation of tumorsuppressor genes, such as p53, p16INK4a, RAR-beta, and RASSF1 ... 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 ... chronic inflammation, and viral infection. The genetic changes include activation of the epidermal growth factor receptor (EGFR), alterations of tumor suppressors p53 and p16, and cyclin D1 overexpression. 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]
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]
H00019 Pancreatic cancer ... RAS proteins, they can also act as RAS signal transducers via RAS-induced autocrine activation of the EGFR family ligands. Moreover, PDA shows extensive genomic instability and aneuploidy. Telomere attrition ... Cancer hsa05212 Pancreatic cancer KRAS [HSA:3845] [KO:K07827]
TP53 [HSA:7157] [KO:K04451]
SMAD4 [HSA:4089] [KO:K04501]
STK11 [HSA:6794] [KO:K07298]
ERBB2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (mutation, deletion, promoter methylation) [HSA:1029] [KO:K06621]
(PNCA1) PALLD [HSA:23022] [KO:K22029]
(PNCA2) BRCA2 [HSA:675] [KO:K08775]
(PNCA3) PALB2 [HSA:79728] [KO:K10897]
(PNCA4) BRCA1 [HSA:672] [KO:K10605]
(PNCA5) RABL3 [HSA:285282] [KO:K07933]
H00022 Bladder cancer The urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carcinoma ... 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]
H00028 Choriocarcinoma Gestational choriocarcinoma is a highly 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 ... 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]
H00030 Cervical cancer ... 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 of cervical ... 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]
H00031 Breast cancer ... pathways, and stimulate cell growth, survival and differentiation. In patients suffering from TNBC, the deregulation of various signalling pathways (Notch, Wnt/beta-catenin, and EGFR) have been confirmed. 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]
H00042 Glioma ... glioblastoma). Primary glioblastomas develop in older patients and typically show genetic alterations (EGFR amplification, p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glioblastomas ... 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]
H00055 Laryngeal cancer Laryngeal cancer is one of the most common malignancies in Europe, with about 52,000 new cases per year, 90% of them occurring in men. Smoke and alcohol represent the major behavioral risk factors. Of ... 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]
H01017 Choanal atresia and lymphedema ... phosphatase. PTPN14 has been shown to interact with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase that is essential for lymphangiogenesis. The mechanism responsible ... Congenital malformation PTPN14 [HSA:5784] [KO:K18025]
H01471 Lymphangioma ... indicates that the neoplasm may result from transformed LECs and/or stromal cells. This transformation is modulated by VEGF-C, a specific lymphatic endothelial growth factor, and its receptor VEGFR-3. Neoplasm VEGFR-3 (overexpression) [HSA:2324] [KO:K05097]
H01482 Infantile hemangioma ... explain its origin. Recent studies provide strong evidence for the conclusion that the VEGF receptor 2 (VEGFR2) and Tumor Endothelial Marker 8 (TEM8) mutations represent risk factor mutations for hemangioma ... Neoplasm TEM8 [HSA:84168] [KO:K20909]
VEGFR2 [HSA:3791] [KO:K05098]
H01508 Salivary gland cancer ... transcript can activate transcription of targets in the Notch pathway. Epidermal growth factor receptor (EGFR) and human epidermal growth factor receptor 2 (HER2) overexpression is present in a minority of ... Cancer CRTC1-MAML2 (translocation) [HSA:23373 84441] [KO:K15309 K06061]
MYB-NF1B (translocation) [HSA:4602] [KO:K09420]
ETV6-NTRK3 (translocation) [HSA:4916] [KO:K05101]
EGFR (overexpression) [HSA:1956] [KO:K04361]
HER2 (overexpression) [HSA:2064] [KO:K05083]
CDKN2A (deletion) [HSA:1029] [KO:K06621]
H01509 Tonsillar cancer ... HPV-positive TC showed a strong association with p16 overexpression, and an inverse association with EGFR amplification. HPV-16 integration status was strongly associated with c-myc amplification and HIF-1a ... Cancer CDKN2A (overexpression) [HSA:1029] [KO:K06621]
MYC (amplification) [HSA:4609] [KO:K04377]
HIF1A (overexpression) [HSA:3091] [KO:K08268]
H01559 Oropharyngeal cancer ... majority of HPV-negative tumors, instead, harbor mutations in the TP53 gene, an increased epidermal growth factor receptor (EGFR) gene copy number and higher EGFR expression by immunohistochemistry (IHC). Cancer TP53 (mutation) [HSA:7157] [KO:K04451]
EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
H01666 Angiosarcoma ... shown relatively increased expression of vascular endothelial growth factor (VEGF) and its receptors (VEGFr1-3) in human angiosarcoma. The most common gene mutation in angiosarcomas is KRAS as well as other ... Cancer KRAS (mutation) [HSA:3845] [KO:K07827]
HRAS (mutation) [HSA:3265] [KO:K02833]
NRAS (mutation) [HSA:4893] [KO:K07828]
H02467 Neonatal inflammatory skin and bowel disease Neonatal inflammatory skin and bowel disease (NISBD) is a rare autosomal recessive disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. A few gene mutations ... Immune system disease (NISBD1) ADAM17 [HSA:6868] [KO:K06059]
(NISBD2) EGFR [HSA:1956] [KO:K04361]
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