Table 1.
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 |
Obtained from Gene Ontoloqv website (www.qeneontoloqv.orq).
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).