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. 2020 Jul 18;41(10):1353–1362. doi: 10.1093/carcin/bgaa077

Table 2.

Top pathways for the genes linked to mSNPs categorized by the number of counts in COSMIC

COSMIC singletons (7290) 2–4 COSMIC counts (8430) 5–9 COSMIC counts (5340) 10–19 COSMIC counts (2747) >19 COSMIC counts (968)
KEGG pathway P-value KEGG pathway P-value KEGG pathway P-value KEGG pathway P-value KEGG pathway P-value
Pancreatic secretion 0.00000058 Endocytosis 0.00011 Ascorbate and aldarate metabolism 0.00078 Adherens junction 0.00015 Drug metabolism—cytochrome P450 0.0000083
Endocytosis 0.000087 Pancreatic secretion 0.00033 Pancreatic secretion 0.00085 Fc gamma R-mediated phagocytosis 0.00035 Metabolism of xenobiotics by cytochrome P450 0.000023
Calcium signaling pathway 0.00057 Hematopoietic cell lineage 0.0027 Endocrine and other factor-regulated calcium reabsorption 0.0028 Pentose and glucuronate interconversions 0.00051 Pentose and glucuronate interconversions 0.000034
Gastric acid secretion 0.0015 Epstein-Barr virus infection 0.0036 Fc gamma R-mediated phagocytosis 0.0031 Pathways in cancer 0.0023 Ascorbate and aldarate metabolism 0.000048
Neuroactive ligand-receptor interaction 0.0022 Renin secretion 0.0068 Protein digestion and absorption 0.0041 Cell adhesion molecules 0.0026 Chemical carcinogenesis 0.000058
Endocrine and other factor-regulated calcium reabsorption 0.0037 Leukocyte transendothelial migration 0.0082 Pentose and glucuronate interconversions 0.0042 Endometrial cancer 0.0027 Endometrial cancer 0.00006
Leukocyte transendothelial migration 0.004 TNF signaling pathway 0.0086 Long-term depression 0.0044 Long-term depression 0.0052 Prostate cancer 0.00017
Carbohydrate digestion and absorption 0.0064 Synaptic vesicle cycle 0.0096 Cell adhesion molecules 0.0079 Serotonergic synapse 0.0055 Porphyrin and chlorophyl metabolism 0.00025
Thyroid hormone synthesis 0.0098 Proximal tubule bicarbonate reclamation 0.0099 Metabolism of xenobiotics by cytochrome P450 0.0087 Axon guidance 0.0056 Adherens junction 0.00027
Fc gamma R-mediated phagocytosis 0.01 Calcium signaling pathway 0.017 Inflammatory mediator regulation of TRP channels 0.0097 Proteoglycans in cancer 0.0068 Pathways in cancer 0.00032
Starch and sucrose metabolism 0.013 Endocrine and other factor-regulated calcium reabsorption 0.018 Endocytosis 0.016 Focal adhesion 0.007 Drug metabolism—other enzymes 0.00052
Protein digestion and absorption 0.015 Biosynthesis of antibiotics 0.02 Chemical carcinogenesis 0.017 ECM-receptor interaction 0.0072 Central carbon metabolism in cancer 0.0016
Glycerolipid metabolism 0.016 Gastric acid secretion 0.031 cAMP signaling pathway 0.019 Prostate cancer 0.0083 Retinol metabolism 0.0016
Synaptic vesicle cycle 0.018 Fc gamma R-mediated phagocytosis 0.036 Axon guidance 0.021 Endocrine and other factor-regulated calcium reabsorption 0.012 Proteoglycans in cancer 0.0017
TGF-beta signaling pathway 0.018 Circadian entrainment 0.041 Thyroid hormone signaling pathway 0.023 HIF-1 signaling pathway 0.012 Arrhythmogenic right ventricular cardiomyopathy 0.0023
cAMP signaling pathway 0.019 Cell adhesion molecules 0.044 Thyroid hormone synthesis 0.024 Morphine addiction 0.012 Thyroid hormone signaling pathway 0.0026
Cell adhesion molecules 0.02 Long-term depression 0.045 Insulin secretion 0.024 GnRH signaling pathway 0.012 Thyroid cancer 0.0034
Epstein-Barr virus infection 0.028 Glycerolipid metabolism 0.045 Bladder cancer 0.024 Ascorbate and aldarate metabolism 0.013 Colorectal cancer 0.0046
Phosphatidylinositol signaling system 0.028 Mineral absorption 0.049 Epstein-Barr virus infection 0.025 Arrhythmogenic right ventricular cardiomyopathy 0.016 Cell adhesion molecules 0.0071
Mucin type O-Glycan biosynthesis 0.033 Inflammatory mediator regulation of TRP channels 0.049 Histidine metabolism 0.026 Leukocyte transendothelial migration 0.017 Steroid hormone biosynthesis 0.01
Renin secretion 0.041 Adherens junction 0.053 TNF signaling pathway 0.027 Vibrio cholera infection 0.017 Melanoma 0.011
Aldosterone synthesis and secretion 0.044 Complement and coagulation cascades 0.054 Calcium signaling pathway 0.027 Biosynthesis of antibiotics 0.019 Calcium signaling pathway 0.012
Salivary secretion 0.046 Epithelial cell signaling in Helicobacter pylori infection 0.055 Purine metabolism 0.028 Fc epsilon RI signaling pathway 0.019 Bladder cancer 0.019
Signaling pathways regulating pluripotency of stem cells 0.047 p53 signaling pathway 0.055 Circadian entrainment 0.028 Cholinergic synapse 0.02 Hepatitis B 0.019
AMPK signaling pathway 0.049 Arrhythmogenic right ventricular cardiomyopathy 0.055 Salivary secretion 0.029 Type II diabetes mellitus 0.02 MAPK signaling pathway 0.024
Aldosterone-regulated sodium reabsorption 0.049 Protein digestion and absorption 0.055 Drug metabolism—cytochrome P450 0.029 Circadian entrainment 0.02 Oxytocin signaling pathway 0.025
Olfactory transduction 0.05 Salivary secretion 0.057 Adherens junction 0.029 Calcium signaling pathway 0.021 B cell receptor signaling pathway 0.027
Hippo signaling pathway 0.055 NF-kappa B signaling pathway 0.069 Inositol phosphate metabolism 0.039 Thyroid cancer 0.041 Cholinergic synapse 0.04

Number of genes used in pathway analysis is shown in parenthesis.