Protein folding Reproduction Signal transduction Transcription Transport 4 13 19 8 11 P2RX2; ST8S1A2; HTR1F; SCN10A; SLC28A2; MCOLN1; DLGAP4; SYT8; ATP2B3; MAP1A; LAMA4; MAP3K1; AHNAK; CHAF1A; GRPEL1; HSPA4; EEF1A2; SPDY1; CENPI; BRCA2; NCOA4; PRKCZ; MAP3K1 AFF2; CASP7 BRCA2; CASP7; NCOA6;IL7R; KLKB1; IL17RA; MAP3K1; DSG2; PRKCZ; IFI44; IL18R1; HABP2; NCOA6; BRCA2; MAP3K1; TAF3; PABPN1 MSH2; NCOA4; PPARGC1B; ZNF217; ME2;P2RX2; ANK3; LATS1; MAT2A Fawcett et al. BMC Genomics 2011, 12:311 http://www.biomedcentral.com/1471-2164/12/311 Table 2 Diseases associated with genes containing nsSNPs (Continued) Page 7 of 13 A list of genes containing probably or possibly damaging nsSNPs as predicted by PolyPhen-2 was submitted for network analysis in GeneGo. Characterization of the genes containing nsSNPs is achieved by listing the general cellular process (column 1), the total number of deleterious nsSNPs in the genes that GeneGo annotated (column 2), the genes associated with the cellular process (column 3), and the specific diseases that have been associated by GeneGo with the genes in question (columns 4-6). Anoxia Schizophrenia Parkinson’s disease Glioma Mucolipidoses Pain Asthma Acquired immunodeficiency Fragile X Syndrome Liver cirrhosis Diabetes mellitus type I Aneurysm Pulmonary fibrosis Diabetes mellitus type I Carcinoma (multiple types) Graft vs. host disease Gastrointestinal diseases Hyperaldosteronism Paralysis Genomic instability RBAK; CASC5; Carcinoma (multiple types) Diabetes mellitus type II Oligospermia CYCS; BAMBI; Carcinoma (multiple types) Hypertension anemia Spontaneous abortion Arteriosclerosis Dilated cardiomyopathy Huntington’s disease Thrombocytopenia Rheumatoid arthritis Retinoblastoma Severe combined immunodeficiency Multiple sclerosis Alzheimer’s disease Oculopharyngeal muscular dystrophies KCNH3; LTF; Anemia Spontaneous abortion Carcinoma (multiple types) Aneuploidy Infertility Alzheimer’s disease Genomic instability Crohn’s disease Epilepsy Carcinoma (multiple types) Diabetes mellitus type II Gastritis Asthma Sarcoidosis Diabetes mellitus type I Arrhythmogenic right ventricular dysplasia Rheumatoid arthritis Deglutition disorders Liver cirrhosis Obesity Barrett esophagus progeria