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Genes and Diseases Genes and Diseases Harvey Ras oncogene Leukemia, chronic myeloid Myotonic dystrophy Retinoblastoma Severe combined immunodeficiency Narcolepsy From NCBI: Tuberous sclerosis Neurofibromatosis http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd Von Hippel-Lindau syndrome Male-Specific Diseases Niemann–Pick disease Alport syndrome Parkinson disease Genes and Disease is a collection of articles that The Digestive System Male pattern baldness Phenylketonuria discuss genes and the diseases that they cause. These Colon cancer Prostate cancer Prader-Willi syndrome genetic disorders are organized by the parts of the Crohn's disease SRY: Sex determination Refsum disease body that they affect. As some diseases affect various Cystic fibrosis Rett syndrome body systems, they appear in more than one chapter. Diabetes, type 1 Muscle and Bone Spinal muscular atrophy Glucose galactose malabsorption Achondroplasia Spinocerebellar ataxia With each genetic disorder, the underlying Pancreatic cancer Amyotrophic lateral sclerosis Tangier disease mutation(s) is discussed, along with clinical features Wilson's disease Charcot–Marie–Tooth syndrome Tay-Sachs disease and links to key websites. You can browse through Zellweger syndrome Cockayne syndrome Tuberous sclerosis the articles online, and you can also download a Diastrophic dysplasia Von Hippel-Lindau syndrome printable file (PDF) of each chapter. Ear, Nose, and Throat Duchenne muscular dystrophy Williams syndrome Deafness Ellis-van Creveld syndrome Wilson's disease From Genes and Disease you can delve into many Neurofibromatosis Fibrodysplasia ossificans progressiva Zellweger syndrome online related resources with free and full access. For Pendred syndrome Marfan syndrome example, you can visit the human genome to see the Myotonic dystrophy Nutritional and Metabolic Diseases location of the genes implicated in each disorder. Diseases of the Eye Adrenoleukodystrophy Best disease Neonatal Diseases Diabetes, type 1 You can also find related gene sequences in different Glaucoma Achondroplasia Gaucher disease organisms. And for the very latest information, you Gyrate atrophy of the choroid and retina Angelman syndrome Glucose galactose malabsorption can search for complete research articles, and look in Retinoblastoma Cockayne syndrome Hereditary hemochromatosis other books in the NCBI Bookshelf. Cystic fibrosis Lesch-Nyhan syndrome Female-Specific Diseases DiGeorge syndrome Maple syrup urine disease Currently over 80 genetic disorders have been Breast and ovarian cancer Fragile X syndrome Menkes syndrome summarized, and the content of Genes and Disease is Rett syndrome Marfan syndrome Niemann–Pick disease continually growing. Prader-Willi syndrome Obesity Glands and Hormones Severe combined immunodeficiency Pancreatic cancer Blood and Lymph Diseases Adrenal hyperplasia, congenital Waardenburg syndrome Phenylketonuria Anemia, sickle cell Adrenoleukodystrophy Werner syndrome Prader-Willi syndrome Burkitt lymphoma Autoimmune polyglandular syndrome Williams syndrome Porphyria Gaucher disease Breast and ovarian cancer Zellweger syndrome Refsum disease Hemophilia A Cockayne syndrome Tangier disease Leukemia, chronic myeloid Diabetes, type 1 The Nervous System Tay-Sachs disease Niemann–Pick disease Diastrophic dysplasia Adrenoleukodystrophy Wilson's disease Paroxysmal nocturnal hemoglobinuria Multiple endocrine neoplasia Alzheimer disease Zellweger syndrome Porphyria Pendred syndrome Amyotrophic lateral sclerosis Thalassemia Angelman syndrome Respiratory Diseases The Heart and Blood Vessels Ataxia telangiectasia Alpha-1-antitrypsin deficiency Cancers Ataxia telangiectasia Charcot–Marie–Tooth syndrome Asthma Breast and ovarian cancer Atherosclerosis Cockayne syndrome Cystic fibrosis Burkitt lymphoma Long QT syndrome Deafness Lung carcinoma, small cell Colon cancer Von Hippel-Lindau syndrome Duchenne muscular dystrophy Leukemia, chronic myeloid Williams syndrome Epilepsy Skin and Connective Tissue Lung carcinoma, small cell Essential tremor Male pattern baldness Malignant melanoma Diseases of the Immune System Familial Mediterranean fever Diastrophic dysplasia Multiple endocrine neoplasia Asthma Fragile X syndrome Ellis-van Creveld syndrome Neurofibromatosis Ataxia telangiectasia Friedreich's ataxia Marfan syndrome The p53 tumor suppressor protein Autoimmune polyglandular syndrome Gaucher disease Malignant melanoma Pancreatic cancer Burkitt lymphoma Huntington disease Menkes syndrome Polycystic kidney disease Diabetes, type 1 Lesch-Nyhan syndrome Porphyria Prostate cancer DiGeorge syndrome Maple syrup urine disease Immunodeficiency with hyper-IgM Menkes syndrome Science Honors Program Computers & Chemistry Spring 2007 Genes and Diseases. Pick a disease from the list given out in class. Try to find a genetic disease that is caused by a mutation in a single gene. Many of the diseases in the list are caused by multiple genes, which may be located on multiple chromosomes. Go to the Genes and Diseases reference from NCBI (http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd) to find out about the genetic disorder. What disease did you choose: _________________________________________________________________ What Chromosome(s) is the gene(s) on? ________________________________________________________ What protein(s) does the gene(s) code for? ______________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ Using PubMed or OMIM, give the titles of at least two recently published papers that relate to disease and its gene(s). __________________________________________________________________________________________ __________________________________________________________________________________________ Briefly describe the disease: _________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ __________________________________________________________________________________________ .
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