Table 3

Summary of pathway description from the KEGG Pathway Database
Global Pathway Subpathway Pathway Gene SNP
Metabolism Carbohydrate Metabolism Galactose metabolism LCT rs109697559
Amino sugar and nucleotide sugar metabolism CHI3L1 rs41790889
Lipid Metabolism Glycerophospholipid metabolism PHOSPHO1 rs136717249
Metabolism of Terpenoids and Polyketides Terpenoid backbone biosynthesis PMVK rs109349988
Metabolism of Cofactors and Vitamins Riboflavin metabolism FLAD1 rs109349988
Genetic Information Processing Replication and Repair DNA replication MCM6 rs109697559
Folding, Sorting and Degradation RNA degradation BTG2 rs41790889
Translation Aminoacyl-tRNA biosynthesis DARS rs109697559
Environmental Information Processing Signal Transduction MAPK signaling pathway CACNB2, PDGFA rs41683753, rs136287610
ErbB signaling pathway SHC1 rs109349988
Signaling Molecules and Interaction Cell adhesion molecules (CAMs) CLDN18, ALCAM rs137294146, rs43341824
Neuroactive ligand-receptor interaction CHRNB2, GIP, ADORA1 rs109349988, rs136717249, rs41790889
Cytokine-cytokine receptor interaction NGFR, PDGFA rs136717249, rs136287610
Cellular Processes Cell Motility Regulation of actin cytoskeleton EZR, PDGFA rs110607520, rs136287610
Cell Growth and Death Cell cycle MCM6 rs109697559
Apoptosis PRKAR1B rs136287610
Cell Communication Tight junction CLDN18 rs137294146
Focal adhesion SHC1, PDGFA rs109349988, rs136287610
Gap junction PDGFA rs136287610
Transport and Catabolism Peroxisome PMVK rs109349988
Organismal Systems Circulatory System Cardiac muscle contraction CACNB2 rs41683753
Immune System Leukocyte transendothelial migration EZR, CLDN18 rs110607520, rs137294146
Chemokine signaling pathway GNGT2, SHC1 rs136717249, rs109349988
Cytosolic DNA-sensing pathway ADAR rs109349988
Natural killer cell mediated cytotoxicity SHC1
Digestive System Gastric acid secretion EZR rs110607520
Carbohydrate digestion and absorption LCT rs109697559
Nervous System Glutamatergic synapse GNGT2 rs136717249
GABAergic synapse GNGT2 rs136717249
Cholinergic synapse GNGT2, CHRNB2 rs136717249, rs109349988
Dopaminergic synapse GNGT2 rs136717249
Serotonergic synapse GNGT2 rs136717249
Retrograde endocannabinoid signaling GNGT2, RIMS1 rs136717249, rs110025080
Synaptic vesicle cycle RIMS1 rs110025080
Neurotrophin signaling pathway SHC1, NGFR rs109349988, rs136717249
Development Axon guidance EFNA3, EFNA4 rs109349988
Endocrine System Insulin signaling pathway SHC1, PRKAR1B rs109349988, rs136287610
Human Diseases Cardiovascular Diseases Hypertrophic cardiomyopathy (HCM) CACNB2 rs41683753
Arrhythmogenic right ventricular cardiomyopathy (ARVC) CACNB2 rs41683753
Dilated cardiomyopathy (DCM) CACNB2 rs41683753
Infectious Diseases Pathogenic Escherichia coli infection EZR rs110607520
Hepatitis C CLDN18 rs137294146
Measles ADAR rs109349988
Influenza A ADAR rs109349988
Bacterial invasion of epithelial cells SHC1 rs109349988
HTLV-I infection PDGFA rs136287610
Substance Dependence Morphine addiction GNGT2, ADORA1 rs136717249, rs41790889
Nicotine addiction CHRNB2 rs109349988
Alcoholism GNGT2, SHC1 rs136717249, rs109349988
Cancers Pathways in cancer CKS1B, PDGFA rs109349988, rs136287610
Small cell lung cancer CKS1B rs109349988
Glioma SHC1, PDGFA rs109349988, rs136287610
Chronic myeloid leukemia SHC1 rs109349988
Transcriptional misregulation in cancers NGFR, PDGFA rs136717249, rs136287610
Melanoma PDGFA rs136287610
Prostate cancer PDGFA rs136287610

Mokry et al.

Mokry et al. BMC Genetics 2013 14:47   doi:10.1186/1471-2156-14-47

Open Data