| Entry |
Thumbnail Image |
Name |
Description |
Object |
Legend |
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hsa03430
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Mismatch repair |
...rated during DNA replication, thereby preventing mutations from becoming permanent in dividing cells... |
4436 (MSH2) 27030 (MLH3) 4292 (MLH1) 4292 (MLH1) 3978 (LIG1) 5111 (PCNA) 10714 (POLD3), 5424 (POLD1)... |
Dam MutS MSH2 MLH3 MLH1 Colorectal cancer MutH MutL Lig UVRD MLH1 LigI PCNA DpoIII ExoI Polδ RPA Exo... |
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hsa01521
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EGFR tyrosine kinase inhibitor resistance |
...erves as a stimulus for cancer growth. EGFR gene mutations and protein overexpression, both of which... |
C00165 (Diacylglycerol) C05981 (Phosphatidylinositol-3,4,5-trisphosphate) D07907 (Erlotinib (INN)) D... |
... Growth Angiogenesis Survival Proliferation EGFR mutation Her2 mutation DNA PI3K-Akt signaling pathw... |
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hsa05210
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Colorectal cancer |
...ypermethylation of their promoter, and secondary mutation of genes with coding microsatellites, such... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) 1630 (DCC) 836 (CASP3) 7040 (TGFB1), 7042 (TGFB2),... |
DCC CASP3 TGFβ PI3K CASP9 APPL CASP3 APC Smad2 TGFβRI Smad4 hMLH1 hMSH2 K-Ras Raf JNK Axin Axin RalG... |
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hsa05218
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Melanoma |
...s also driven by genetic factors. Oncogenic NRAS mutations activate both effector pathways Raf-MEK-E... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) 673 (BRAF) 999 (CDH1) 4893 (NRAS) 1019 (CDK4) 595 ... |
p53 signaling pathway Melanogenesis BRAF ECAD Adherens junction NRAS CDK4 CyclinD1 MITF PTEN RTK Bad... |
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hsa05410
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Hypertrophic cardiomyopathy |
...valence in young adults of 1 in 500. Hundreds of mutations in the genes that encode protein constitu... |
C00002 (ATP) C00076 (Calcium cation) C00076 (Calcium cation) C00076 (Calcium cation) C00076 (Calcium... |
...Heart failure Sarcomeric/intrasarcomeric protein mutation Cardiac myocyte Increased Ca sensitivit... |
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hsa04934
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Cushing syndrome |
... resulting from monoclonal expansion of a single mutated cell. Recently recurrent activating somatic... |
C00076 (Calcium cation) C00238 (Potassium cation) C01245 (D-myo-Inositol 1,4,5-trisphosphate) C00076... |
CUSHING SYNDROME PLCβ L-type IP3 q/11 T-type Calcium signaling pathway Mitochondria CREB cAMP AMP P... |
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hsa04950
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Maturity onset diabetes of the young |
... We now know that MODY is caused by heterozygous mutations in at least five genes encoding transcrip... |
6928 (HNF1B) 3280 (HES1) 168620 (BHLHA15) 3175 (ONECUT1) 2645 (GCK) 3651 (PDX1) 3171 (FOXA3) 4760 (N... |
HNF1β Hes1 Mist1 HNF6 PDX1 FoxA3 NeuroD1 Hes1 MafA HNF4γ Nkx2.2 Ins HNF1α IAPP Pax4 Pax6 Glut2 Neuro... |
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hsa05223
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Non-small cell lung cancer |
...ch as p53, p16INK4a, RAR-beta, and RASSF1. Point mutations within the K-RAS gene inactivate GTPase a... |
C00777 (Retinoate), C15493 (9-cis-Retinoic acid) C00076 (Calcium cation) C00165 (Diacylglycerol) C01... |
PKC Retinoic acid DAG PIP Forkhead CASP9 BAD PKB/Akt PDK1 PI3K CDK4/6 CyclinD1 E2F Ras PLCγ TGFα EGF... |
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hsa05226
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Gastric cancer |
...C. The intestinal metaplasia is characterized by mutations in p53 gene, reduced expression of retino... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) C05981 (Phosphatidylinositol-3,4,5-trisphosphate) ... |
GASTRIC CANCER Ras Raf MEK ERK1/2 Shc Grb2 SOS mTOR S6K PI3K-Akt signaling pathway Ras Raf MEK ERK1... |
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hsa05010
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Alzheimer disease |
...senilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can l... |
C01245 (D-myo-Inositol 1,4,5-trisphosphate) C00076 (Calcium cation) C00076 (Calcium cation) C00533 (... |
PEN2 PSEN NCSTN APH-1 γ-Secretase BACE ADAM10/17 β-Secretase α-Secretase TNF Microglia AICD C99 sAPP... |
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hsa05012
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Parkinson disease |
...s compacta (SNc). Both environmental factors and mutations in familial PD-linked genes such as SNCA,... |
C04599 (1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine) C07593 (Rotenone) C00002 (ATP) C00008 (ADP) C0... |
LRRK2 Ubiquitin mediated proteolysis Proteasome Apoptosis UBA1 UbcH7/8 Parkin CDCrel1 synphilin1 Pae... |
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hsa05204
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Chemical carcinogenesis - DNA adducts |
...ey may lead to miscoding, resulting in permanent mutations. Mutations cause an undefined number of c... |
C19586 (Aflatoxin B1-exo-8,9-epoxide) C14853 (Benzo[a]pyrene-7,8-dihydrodiol-9,10-oxide) C14854 (9-H... |
CHEMICAL CARCINOGENESIS - DNA ADDUCTS AFB1-exo-8,9-epoxide CYP3A4 CYP1 CYP1 CYP1/2/3 B[a]P-7,8-d... |
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hsa05212
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Pancreatic cancer |
...overexpression of HER-2/neu and activating point mutations in the K-ras gene occur early, inactivati... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) C00416 (Phosphatidate) C05981 (Phosphatidylinosito... |
HER2/neu K-Ras PI3K RacGEF PKB/Akt Rac IKK NFκB Bad Bcl-xl Raf CASP9 MEK ERK RalGDS Ral RalBP1 PLD1 ... |
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hsa05213
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Endometrial cancer |
...ype I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and typ... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) 1499 (CTNNB1) 1499 (CTNNB1) 3265 (HRAS), 3845 (KRA... |
β-Catenin β-Catenin Ras APC Axin GSK-3β α-Catenin β-Catenin Cell cycle Fkhrl1 BAD Casp9 ILK ErbB sig... |
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hsa05214
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Glioma |
...EGFR amplification, p16/INK4a deletion, and PTEN mutations) at frequencies of 24-34%. Secondary glio... |
C01245 (D-myo-Inositol 1,4,5-trisphosphate) C00076 (Calcium cation) C00165 (Diacylglycerol) C05981 (... |
EGF TGFα PDGF IGF-1 EGFR PDGFR IGFR EGF TGFα PDGF IGF-1 EGFR PDGFR IGFR CAM CAMK PKC Shc Grb2 Sos Ra... |
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hsa05217
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Basal cell carcinoma |
...tive activation of sonic hedgehog signaling. The mutations in SMOH, PTCH1, and SHH in BCCs result in... |
C00187 (Cholesterol) 374654 (KIF7) 2735 (GLI1) 5727 (PTCH1), 8643 (PTCH2) 650 (BMP2), 652 (BMP4) 513... |
KIF7 Cholesterol GLI1 PTCH1 BMP Wnt SHH APC PTCH1 SUFU Axin Dvl Frizzled BASAL CELL CARCINOMA GLI S... |
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hsa05225
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Hepatocellular carcinoma |
...etic and epigenetic changes occur. The recurrent mutated genes were found to be highly enriched in m... |
C05981 (Phosphatidylinositol-3,4,5-trisphosphate) C05981 (Phosphatidylinositol-3,4,5-trisphosphate) ... |
HEPATOCELLULAR CARCINOMA EGFR Ras Raf MEK ERK1/2 Shc Grb2 SOS mTOR S6K IGF-II IGF1R PI3K-Akt signal... |
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hsa05020
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Prion disease |
...ldt-Jakob disease (vCJD), iatrogenic CJD, Kuru), mutations (familial CJD, Gerstmann-Straussler-Schei... |
C00575 (3',5'-Cyclic AMP) C00027 (Hydrogen peroxide), C00704 (Superoxide) C02140 (Corticosterone) C0... |
...ible material Aggresome Lysosome PrP PrP PrP PrP Mutant PrP Mutant PrP PrP PrP Infected cell PrP PrP... |
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hsa05202
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Transcriptional misregulation in cancer |
...anslocation and inversion, or subjected to point mutations that result in a gain- or loss-of- functi... |
2130 (EWSR1) 2313 (FLI1) 2130 (EWSR1) 2078 (ERG) 2130 (EWSR1) 2115 (ETV1) 2130 (EWSR1) 2118 (ETV4) 2... |
...ition of apoptosis Carcinoid Menin p27 MLL (TF) Mutation Proliferation? pTEFb ENL DOT1L Differenti... |
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hsa01523
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Antifolate resistance |
...ifolate polyglutamates, increased expression and mutation of target enzymes, and the augmentation of... |
D00142 (Methotrexate (JP18/USP/INN)), D05589 (Pralatrexate (JAN/USAN/INN)), D04766 (Lometrexol sodiu... |
...AMP GGH Purine metabolism low RFC expression RFC mutation loss of FPGS activity DHFR overexpression ... |