Disease Gene Sites

(alphabetical order)

• Cancer GeneticsWeb: “The aim of the site is to provide comprehensive links to reliable information about genes, their associated proteins, and genetic mutations associated with cancer and related disorders. Each gene page includes links to major genetic databases and where possible links to other related web sites, abstracts references, external searches, and summary information. The site is integrated with Guide to Internet Resources for Cancer to provide links to related clinical and research information sources. Please note: the site includes putative oncogenes / tumour supressor genes and proto-oncogenes implicated in cancer but for which the association with cancer is not necessarily proven.” - http://www.cancerindex.org/geneweb/index.htm
• The Cancer Genome Anatomy Project: "The goal of the NCI's Cancer Genome Anatomy Project is to determine the gene expression profiles of normal, precancer, and cancer cells, leading eventually to improved detection, diagnosis, and treatment for the patient. By collaborating with scientists worldwide, CGAP seeks to increase its scientific expertise and expand its databases for the benefit of all cancer researchers."  - http://cgap.nci.nih.gov/
• Cleft Lip and Palate: "Candidate genes in cleft lip and palate" -http://genetics.uiowa.edu/projects/projectDescriptions/WebSiteLegends.htm
• Clinical Genetics: “An extensive review of clinical genetics, including examples of genetic disorders, Mendelian segregation patterns, inheritance patterns, multifactorial inheritance all with specific disease examples with hyperlinks. A list of relevant links are also provided.” - http://www.dorak.info/genetics/notes05.html
• Cytokine Gene Polymorphism in Human Disease: “List of cytokine polymorphisms, effects on expression, disease associations and relevant links. Updated 2002 next update due 2006” - http://www.bris.ac.uk/cellmolmed/services/GAI/cytokine4.htm
• Diabetesgenes.org "aims to provide information for patients and professionals on research and clinical care in genetic types of diabetes." -  http://www.diabetesgenes.org
• Genetic Association Database (NIH): “The Genetic Association Database is an archive of human genetic association studies of complex diseases and disorders. The goal of this database is to allow the user to rapidly identify medically relevant polymorphism from the large volume of polymorphism and mutational data, in the context of standardized nomenclature. The data is from published scientific papers. Study data is recorded in the context of official human gene nomenclature with additional molecular reference numbers and links. It is gene centered. That is, each record is a record of a gene or marker. If a study investigated 6 genes for a particular disorder, there will be 6 records. Anyone may view this database and anyone may submit records.” - http://geneticassociationdb.nih.gov/ 
• The genetic epidemiology of neurodegenerative disease (200]5) [Alzheimer and other dementias; Parkinson disease]: “Free Access/PubMed Central J Clin Invest. 2005 June 1; 115(6): 1449–1457. Copyright © 2005, American Society for Clinical Investigation Lars Bertram and Rudolph E. Tanzi. "In this review, we discuss the current status of genetic epidemiology of the most common neurodegenerative diseases: Alzheimer disease, Parkinson disease, Lewy body dementia, frontotemporal dementia, amyotrophic lateral sclerosis, Huntington disease, and prion diseases, with a particular focus on similarities and differences among these syndromes."“ - http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1137006 
• The Genetic Landscape of Diabetes - detailed genetics articles about all forms of diabetes: “The genetics of diabetes is complicated—but this book is not and is written for a wide audience. Because what we know about the genetics of diabetes is continually changing, links to live searches of the latest published literature and data will keep this book up to date. All of the content (the online book and the PDFs) is free. Who should read this book? Readers with an interest in science, patients with diabetes, physicians, high school students, and research scientists. Research scientists and geneticists may be interested to read the "Molecular Information" for each gene. Here the book showcases the power and utility of NCBI tools for biomedical research.” - http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowTOC&rid=diabetes.TOC&depth=1
• HIV-1/AIDS susceptibility: CCR5 deletion and CCL3L1 copy number variation: “Segmental duplications in the human genome are selectively enriched for genes involved in immunity, although the phenotypic consequences for host defense are unknown. We show that there are significant interindividual and interpopulation differences in the copy number of a segmental duplication encompassing the gene encoding CCL3L1 (MIP-1alphaP), a potent human immunodeficiency virus-1 (HIV-1)-suppressive chemokine and ligand for the HIV coreceptor CCR5. Possession of a CCL3L1 copy number lower than the population average is associated with markedly enhanced HIV/acquired immunodeficiency syndrome (AIDS) susceptibility....” - http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstract&list_uids=15637236 
• HLA (human lymphocyte antigen) genes: “Detailed information about the HLA genes in the web pages of M.Tevfik Dorak M.D., Ph.D. Sections include HLA Molecules, Biosynthesis and Expression - Statistics in HLA Association Studies - several sections concerned with HLA in leukemia - and many useful HLA-related links.” - http://www.dorak.info/hla/index.html
• Human Genome Epidemiology Network, (HuGENet™) reviews: “A HuGE Review identifies human genetic variations at one or more loci, and describes what is known about the frequency of these variants in different populations, identifies diseases that these variants are associated with and summarizes the magnitude of risks and associated risk factors, and evaluates associated genetic tests. Reviews point to gaps in existing epidemiologic and clinical knowledge, thus stimulating further research in these areas. We invite authors to write reviews in their area of expertise.” - http://www.cdc.gov/genomics/hugenet/reviews.htm 
• Major histocompatibility complex: “Major histocompatibility complex overview in the open entry web encyclopedia Wikipedia. The major histocompatibility complex (MHC) is a large genomic region or gene family found in most vertebrates containing many genes with important immune system roles. In humans, the MHC spans almost 4 megabases (4 000 000 base pairs) of chromosome 6 and includes more than 200 known genes, of which about half have known immmunological functions. The MHC complex is divided into three subgroups called MHC class I, MHC class II and MHC class III.” - http://en.wikipedia.org/wiki/Major_histocompatibility_complex
• Major Histocompatibility Complex (MHC): “Detailed information and links about the MHC complex in the web pages of M.Tevfik Dorak, MD PhD. Sections include - Compatibility Systems in Nature - Origin of the MHC and Its Polymorphism - Evolutionary Histories of HLA-DRB Haplotypes - MHC Structure and Function - MHC and Leukaemia - Glossary - HLA-Related Links - Infection & Immunity Reviews.” - http://www.dorak.info/mhc/
• Meta-analysis: apolipoprotein E genotypes and risk for coronary heart disease.: “Ann Intern Med. 2004 Jul 20;141(2):137-47. Song Y, Stampfer MJ, Liu S. Predefined criteria were used to identify 48 relevant studies. A summary database that contained variables of study design, study sample and ethnicity, sex, apoE genotypes, CHD end points, plasma lipid levels, and other CHD risk factors was developed. DATA SYNTHESIS: The authors qualitatively evaluated many potential sources of heterogeneity. To quantify the extent of heterogeneity and assess the consistency of apoE-CHD associations, stratified analyses were conducted using the classic random-effects model. To further incorporate uncertainty due to between-study variation, the pooled odds ratios (ORs) and 95% credible intervals (CrIs) were estimated by using a Bayesian hierarchical model. Finally, the robustness of the pooled estimates was tested in multiple sensitivity analyses. The apoE epsilon4 allele is a significant risk factor for CHD.” - http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=Mail&DB=pubmed 
• NCBI Bookshelf 'Genes and Disease': “Genes and Disease is a collection of articles that discuss genes and the diseases that they cause. These genetic disorders are organized by the parts of the body that they affect. As some diseases affect various body systems, they appear in more than one chapter. With each genetic disorder, the underlying mutation(s) is discussed, along with clinical features and links to key websites. You can browse through the articles online, and you can also download a printable file (PDF) of each chapter.” - http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd 
• OMIM database: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM
• Schizophrenia.com "Schizophrenia Genetics, Research Organizations, and Related Information" -http://www.schizophrenia.com/research/#relinfo
• SfN 2005: Cortical Deficits in Schizophrenia: Have Genes, Will Hypothesize: “4 December 2005. For the recent Society for Neuroscience Annual Conference in Washington, D.C., Patricio O'Donnell of Albany Medical College in New York organized a symposium called "Cortical Deficits in Schizophrenia: From Genes to Function." Symposium notes of O'Donnell and SRF editor Hakon Heimer, giving an integrative perspective on how genotypes can affect pathophysiological mechanisms” - http://www.schizophreniaforum.org/new/detail.asp?id=1230
• Wellcome Trust 'Genes and Disease' articles and news: “Genes and disease newsfeeds and articles on the Wellcome Trust (very large UK Charity and funder of research) website, many relevant to common disease genetics.” - http://genome.wellcome.ac.ukgenesandbody/gb_genesanddisease.html