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. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: Pharmacogenomics J. 2014 Aug 26;15(2):189–195. doi: 10.1038/tpj.2014.44

Table 1.

Selected genes, functions and associated disorders.

Total SNPs SNPs after exclusions Gene Name Full Gene Name Chr. Reported Processes and Functiona Reported Associated Disordersb
18 12 FMO3 flavin containing monooxygenase 3 1q24.3 intrinsic to ER membrane, flavin adenine dinucleotide binding, monooxygenase activity, NADP binding trimethylaminuria, metabolic disorder, familial adenomatous polyposis, polyposis, adenoma
10 7 CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1 2p22.2 angiogenesis, arachidonic acid and cellular aromatic compound metabolic process, endothelial cell migration and adhesion, epoxygenase and omega-hydroxylase activity, redox process, response to toxins, steroid and xenobiotic metabolism, visual perception, ER membrane, aromatase, monooxygenase, oxidoreductase and electron carrier activity, heme, oxygen and iron binding breast cancer, congenital glaucoma tumors, cancer, glaucoma, prostate cancer, endometrial cancer, endometriosis, colorectal cancer, glaucoma open-angle
46 37 AOX1 aldehyde oxidase 1 2p33.1 aldehyde oxidase and electron carrier activity, metal ion and NAD binding molybdenum cofactor deficiency, xanthinuria type I and II, tumors, genetic disorder, neurological disorders, renal disease, amyotrophic lateral sclerosis, influenza
7 3 UGT2B10 UDP glucuronosyltransferase 2 family, polypeptide B10 4q13.2 lipid metabolism, ER membrane, glucuronosyltransferase activity none
17 15 AHR aryl hydrocarbon receptor 7p21.1 apoptosis, blood vessel development, cell cycle, intracellular receptor signaling pathway, regulation of transcription from RNA polymerase II, prostate gland development, regulation of B-cell proliferation and transcription, response to stress and xenobiotics, xenobiotic metabolism, cytosolic AHR complex, DNA, transcription factor and protein binding breast cancer, tumors, cancer, lung cancer, shock, adenocarcinoma lung, mammary tumor, retinoblastoma, inflammation, endometriosis
19 10 NAT1 N-acetyltransferase 1 8p22 small molecule and xenobiotic metabolism, cytosol, acetyltransferase activity cancer, breast cancer, bladder cancer, colorectal cancer, polyps, tumors, lung cancer, prostate cancer, pancreatic cancer, colon cancer
15 14 NAT2 N-acetyltransferase 2 8p22 small molecule and xenobiotic metabolism, cytosol, acetyltransferase activity bladder cancer, cancer, breast cancer, colorectal cancer, lung cancer, tumors, prostate cancer, polyps, colon cancer, endometriosis
1 0 CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1 15q24.1 9-cis-retinoic acid biosynthetic process, aging, amine, coumarin, insecticide, porphyrin and flavenoid metabolism, camera-type eye development, cell proliferation, dibenzo-p-dioxin catabolism, digestive tract development, embryo development, hepatocyte differentiation, hydrogen peroxide biosynthesis, parturition, antibiotic, food, herbicide, hyperoxia liposaccharide, nematode, organic cyclic compound, virus, vitamin A, wounding and arsenic response, demethylase, electron carrier, flavonoid 3'-monooxygenase and oxidoreductase activity, enzyme, heme and iron ion binding lung cancer, breast cancer, cancer, tumors, prostate cancer, ahh inducibility, squamous cell carcinoma, oral cancer, colorectal cancer, breast carcinoma
7 2 CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6 19q13.2 coumarin metabolism and catabolism, exogenous drug, steroid, xenobiotic and small molecule metabolism, cytoplasm microtubule, ER membrane, coumarin 7-hydroxylase, oxidoreductase and electron carrier activity, enzyme, heme and iron ion binding lung cancer, cancer, tumors, adenocarcinoma, smoking habit, liver diseases, colorectal cancer, adenoma, renal disease, carcinoma
30 13 CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6 19q13.2 electron carrier, monooxygenase and oxidoreductase activity, heme and iron binding, incorporation or reduction of molecular oxygen tumors, prostate cancer, cancer, inflammation, breast cancer, immunodeficiency, hypertrophy, virus infection, metastasis, necrosis
5 3 CYP2A13 cytochrome P450, family 2, subfamily A, polypeptide 13 19q13.2 xenobiotic and small molecule metabolism, ER membrane, aromatase and electron carrier activity, heme and iron binding cancer, lung cancer
1 1 CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6 22q13.2 electron carrier and oxidoreductase activity, heme and iron binding, incorporation or reduction of molecular oxygen breast cancer, Parkinson disease, schizophrenia, lung cancer, autoimmune hepatitis, cancer, hepatitis c, Alzheimer's disease, bladder cancer, tumors
a

Obtained from Gene Ontoloqv website (www.qeneontoloqv.orq).

b

Reported disease associations were obtained from the too 10 Novoseek disease relationships hits (number of articles in which both the qene's symbol or description and the disease appear) from GeneCards® (www.qenecards.orq).