Fawcett et al. BMC Genomics 2011, 12:311 http://www.biomedcentral.com/1471-2164/12/311 Table 2 Diseases associated with genes containing nsSNPs Page 6 of 13 Diseases Huntington’s disease Thrombocytopenia Diabetes mellitus type I Leukemia Pancreatitis Endometriosis Aneuploidy DNA damage Bipolar Renal cell carcinoma Alzheimer’s disease Rheumatoid arthritis Myeloproliferative disorders Diabetes mellitus type II Amyotrophic lateral Sclerosis Carcinoma (multiple types) Multiple sclerosis Anemia Li-Fraumeni Syndrome Amyotrophic lateral Sclerosis Diabetes mellitus type I Spontaneous abortion Genomic instability Drug toxicity Carcinoma (multiple types) Diabetes mellitus type II Werner Syndrome Male infertility Rheumatoid arthritis Carcinoma (multiple types) Endometriosis osteoporosis Asthma Deglutition disorders Male infertility Coronary disease Oculopharyngeal Muscular dystrophy Genomic instability Li-Fraumeni Syndrome Idiopathic pulmonary fibrosis Werner Syndrome Fanconi anemia Carcinoma (multiple types) Diabetes mellitus type I Drug toxicity General Category Apoptosis Cell cycle Development DNA repair Inflammation Metabolism Nervous System # Associated Deleterious SNPs 8 20 11 9 22 4 17 Gene names CYCS; TNFRSF10D; CASP7; MAP3K1; PRKCZ; MPL; TNFRSF19 BRCA2; POLD2; CDC14A; CDT1; CHAF1A; WRN; IPO5; KIF23; TTK; MSH2; CASC5; PRKCZ; CASP7; SERPINB13; LATS1 NCOA6; PABPN1; LTF; MAP3K1; TLL1; YAP1; SPEN; IL18R1 BRCA2; CHAF1A; FANCM; RAD51L1; WRN; MSH2 BDKRB1; HPRT1; IL18R1; IL7R; MAP3K1; 1L27RA; CD53; LAMA3; LAMA4; IL174A; HABP2; KLKB1 PRKCZ; OAS2; Diabetes mellitus type I Myeloproliferative disorders Sarcoidosis Diabetic nephropathies Crohn’s disease Carcinoma (multiple types) CYCS; SOCS6; Huntington’s disease Thrombocytopenia Asthma Autosomal dominant polycystic kidney Rhinitis Lesch-Nyhan syndrome P2RX2; LTF; Anoxia ACACB; PRKCZ CDK5RAP2; Microcephaly Carcinoma (multiple types) Diabetes mellitus type II Severe combined Immunodeficiency Multiple sclerosis Rheumatoid arthritis Stomach ulcer Ataxia Leukemia Sjogren’s syndrome Gout Nasal polyps Arteriosclerosis Encephalitis Lipodystrophy Telangiectasis Genome instability Rheumatoid arthritis Glomberulonephritis Rheumatoid arthritis