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HumanSelected Genome , Traits, and Landmarks Disorders www.ornl.gov/hgmis/posters/chromosome genomics.energy.gov

246 million base pairs 243 million base pairs 199 million base pairs 191 million base pairs 181 million base pairs 170 million base pairs

Cataracts Melanoma-associated , familial essential von Hippel-Lindau syndrome Moyamoya (familial benign giant- tumor of the ) Deafness, autosomal dominant transporter Homocystinuria-megaloblastic , E type Iridogoniodysgenesis oncogene Malignant transformation suppression Neuroblastoma (neuroblastoma suppressor) iodine peroxidase deficiency Oculodigitoesophagoduodenal syndrome Muscular , limb-girdle, type IC Dopamine Attention-deficit hyperactivity disorder, susceptibility to Craniometaphyseal dysplasia Anterior segment mesenchymal dysgenesis Orofacial cleft Ehlers-Danlos syndrome, type VI , alveolar Goiter, congenital Anaplastic (Ki-1) , complementation group D , severe Huntington disease Cri-du-chat syndrome, mental retardation in Rieger anomaly , acute nonlymphocytic , primary infantile Neuroblastoma, aberrant in some , congenital Pseudovaginal perineoscrotal Biotinidase deficiency mellitus, -resistant Night blindness, congenital stationary, type 3 , types I and II Chondrocalcinosis Polycystic ovary syndrome Axenfeld anomaly Fanconi anemia, complementation group E Hirschsprung disease, cardiac defects Exostoses, multiple-like Lipoproteinemia, hypobeta, abeta-, hyperbeta-, and apo- Xanthinuria, type I pigmentosum, complementation group C Marfan-like disorder pigmentosa, autosomal recessive with Taste receptor Hirschsprung disease factor XIII Ankylosing spondylitis Schwartz-Jampel syndrome Opioid receptor ACTH deficiency Colorectal , hereditary, nonpolyposis, type 1 , dilated, autosomal dominant Thyroid hormone resistance Retinal degeneration, autosomal recessive Muencke syndrome Alpha-methylacyl-CoA racemase deficiency Severe combined palmoplantaris striata , type II Hypophosphatasia, infantile, childhood , type II Obesity, , and red hair Ovarian cancer Endplate acetylcholinesterase deficiency , type IIB Differentially expressed in ovarian cancer Spinocerebellar OSMED syndrome Breast cancer, ductal , type 3 LCHAD deficiency Muir-Torre syndrome Arrhythmogenic right ventricular dysplasia Pseudo- , Adelaide type Wolf-Hirschhorn syndrome Ketoacidosis Malignant susceptibility Schizophrenia susceptibility locus Weissenbacher-Zweymuller syndrome Cutaneous malignant melanoma/dysplastic Prostate cancer Trifunctional deficiency, type 1 T-cell leukemia virus enhancer factor Teratocarcinoma-derived growth factor cancer, small-cell Leukemia inhibitory factor receptor Pituitary hormone deficiency Maple syrup disease, type Ib Deafness, nonsyndromic sensorineural p53-related protein cancer HELLP syndrome, maternal, of Precocious , male Colon cancer Parkinson disease, familial Dopamine receptor , distal, with vocal cord and pharyngeal weakness Cytotoxic T-lymphocyte-associated serine esterase Bare lymphocyte syndrome, type I Dyslexia receptors Charcot-Marie-Tooth neuropathy1 Fatty , acute, of pregnancy , 2male, with hypoplasia Deleted in lung and esophageal3 cancer Pituitary tumor-transforming gene Ellis-van Creveld syndrome4 Molybdenum cofactor deficiency, type B Hanukah factor serine protease5 , secundum type Hemochromatosis 6 Schnyder crystalline , congenital Deafness, autosomal recessive Hypogonadotropic Ovarian carcinoma, endometrioid type Metaphyseal chondrodysplasia, Murk Jansen type Weyers acrodental Endometrial carcinoma Maroteaux-Lamy syndrome Adrenal hyperplasia, congenital Porphyria variegata Kostmann variabilis Glaucoma, primary infantile Hypobetalipoproteinemia, familial Carnitine-acylcarnitine translocase (deficiency) , Shields type II Huntington-like neurodegenerative disorder Klippel-Feil syndrome Serotonin receptor Renal glucosuria Pemphigoid, susceptibility to Oncogene , lung carcinoma-derived Deafness, autosomal dominant and recessive Spastic paraplegia Leydig cell adenoma, with precocious puberty GM1-gangliosidosis Leukemia, acute myeloid , autosomal recessive Anemia, megaloblastic Schizophrenia susceptibility locus Beryllium disease, chronic, susceptibility to Immune suppression to streptococcal antigen Deafness, autosomal dominant Glucose transport defect, -brain barrier Gingival fibromatosis, hereditary Sitosterolemia Mucopolysaccharidosis Colorectal cancer, hereditary nonpolyposis, type 2 Periodontitis, juvenile susceptibility Sandhoff disease Wagner syndrome Leukemia, pre-B-cell , types I and II Porphyria , familial BRCA1 associated protein (breast cancer) Turcot syndrome with glioblastoma Muscular dystrophy, limb-girdle, type 2E Analbuminemia Spinal muscular , juvenile Erosive vitreoretinopathy Tumor necrosis factor (cachectin) Panbronchiolitis, diffuse Epiphyseal dysplasia, multiple, type 2 Neuropathy, paraneoplastic sensory Ovarian dysgenesis Doyne honeycomb degeneration of Muir-Torre family Melanoma growth-stimulating activity imperfecta X-ray repair Basal cell carcinoma Malaria, cerebral, susceptibility to Psoriasis susceptibility Intervertebral disc disease Muscle--brain disease Carney complexes Dyslexia, specific Septooptic dysplasia Hyperglycinemia, nonketotic Hyper-IgE syndrome Convulsions, familial febrile Obesity with impaired prohormone processing Retinitis pigmentosa Ehlers-Danlos-like syndrome Lymphoma, non-Hodgkin Endometrial carcinoma Muscular dystrophy Progressive external ophthalmoplegia, type 2 Pancreatic cancer Renal tubular leukemia Adenomatous polyposis coli Diphtheria toxin receptor Platelet-activating factor Cone dystrophy Breast cancer, invasive intraductal Basal cell carcinoma Zellweger syndrome Miyoshi myopathy , autosomal dominant with associated hematologic disorder Gardner syndrome Contractural , congenital Asthma and atopy, susceptibility to Polycystic and hepatic disease, autosomal recessive Colon adenocarcinoma Corneal dystrophy, gelatinous drop-like , neonatal Myopathy, distal, with anterior tibial onset HIV , susceptibility/resistance to Pituitary ACTH-secreting adenoma Lymphocytic leukemia, acute T-cell Germ cell tumors Colorectal cancer , recessive, type I Peroxisomal biogenesis disorder Retinal degeneration, slow () Maple syrup urine disease, type II Leber congenital amaurosis Alstrom syndrome Orofacial cleft Ichthyosiform erythroderma, congenital Ventricular , idiopathic , susceptibility to Dentinogenesis imperfecta Desmoid disease Deafness Anemia, hemolytic, Rh-null, suppressor type Retinitis pigmentosa, peripherin-related and punctata albescens Atrioventricular canal defect Retinal dystrophy Preeclampsia/eclampsia Parkinson disease, type 3 Long QT syndrome Night blindness, congenital stationary Wolfram syndrome Myeloid/lymphoid or mixed-lineage leukemia Turcot syndrome resistance Methylmalonicaciduria, mutase deficiency type Macular dystrophy Fluorouracil toxicity, sensitivity to B-cell leukemia/lymphoma Welander distal myopathy -dependent coagulation defect T-cell leukemia translocation altered gene Sclerotylosis Parkinson disease, type 1 Ehlers-Danlos syndromes Corneal dystrophy Hemolytic anemia Butterfly dystrophy, retinal Zellweger syndrome Lymphoma, MALT and follicular Kappa light chain deficiency Pancreatitis-associated protein block, progressive and nonprogressive Wernicke-Korsakoff syndrome, susceptibility to Huriez syndrome Polycystic , adult, type II Neonatal alloimmune Eosinophilia, familial Char syndrome Cleidocranial dysplasia Stickler syndrome, type III Mesothelioma Pancreatic stone protein Pulmonary alveolar proteinosis, congenital Deafness, autosomal recessive Bardet-Biedl syndrome Rieger syndrome Hypogonadotropic hypogonadism Myelodysplastic syndrome Serotonin receptor Gluten-sensitive enteropathy (celiac disease) Dental anomalies, isolated Germ cell tumor Glaucoma, open angle, B (adult-onset) Nonpapillary renal carcinoma Iridogoniodysgenesis syndrome Abetalipoproteinemia Limb-girdle muscular dystrophy, autosomal dominant Schistosoma mansoni infection, susceptibility/resistance to Cone-rod dystrophy , autosomal dominant Stargardt disease Sezary syndrome with deafness Diabetes mellitus, non-insulin-dependent Protein S deficiency Severe combined immunodeficiency , beta Deafness Natural killer cell stimulatory factor-2 Inflammatory bowel disease antigen 1 Retinitis pigmentosa Colon cancer BRCA1-associated RING domain (breast cancer) , autosomal dominant and recessive Glycogen storage disease Ventricular, skeletal, slow Afibrinogenemia C3b inactivator deficiency Bronchial hyperresponsiveness (bronchial asthma) GM2-gangliosidosis, AB variant Mixed polyposis syndrome, hereditary Pelviureteric junction obstruction Cone-rod dystrophy Neuroblastoma Hypothyroidism, congenital Dementia, familial, nonspecific Cardiomopathy, hypertrophic Anterior segment mesenchymal dysgenesis Long QT syndrome with sinus bradycardia Hemangioma, capillary infantile Startle disease, autosomal dominant and recessive Leber congenital amaurosis, type V Stargardt disease, autosomal dominant Macular dystrophy, age-related Glycogen storage disease Rhabdomyosarcoma, down-regulated in Pituitary hormone deficiency, combined oxygenase Fibrodysplasia ossificans progressiva Spinocerebellar ataxia Serotonin receptors Epilepsy, juvenile myoclonic Fundus flavimaculatus , autosomal dominant, type II Diazepam-binding inhibitor Colorectal cancer Thyrotropin-releasing hormone deficiency Coproporphyria Fibrinogenemia Macrocytic anemia Atelosteogenesis Macular dystrophy, retinal, North Carolina type Brain-specific angiogenesis inhibitor Hypothyroidism, nongoitrous Waardenburg syndrome, type 2B Thrombophilia due to protein C deficiency Cardiomyopathy, dilated Deafness, autosomal recessive Harderoporphyrinuria Hepatitis B virus integration site Amyloidosis, hereditary renal Gastric cancer Obesity, severe Diazepam-binding inhibitor Exostoses, multiple Vesicoureteral reflux Purpura fulminans, neonatal Spastic cerebral palsy, symmetric, autosomal recessive Hypomagnesemia, primary Oroticaciduria Hepatocellular carcinoma Hair color, red Non small-cell lung cancer Epiphyseal dysplasia, multiple Diabetes mellitus, insulin-dependent Schizophrenia susceptibility locus Pheochromocytoma Choreoathetosis/, episodic (paroxysmal) Liver cancer oncogene Epilepsy Tremor, familial essential Neuropathy, hereditary motor and sensory, Okinawa type Progressive external ophthalmoplegia, type 3 type I, autosomal dominant Retinitis pigmentosa, autosomal recessive Asthma, nocturnal, susceptibility to Muscular dystrophy, congenital merosin-deficient Psoriasis susceptibility Hemochromatosis, type 2 , group B Ataxia, episodic Charcot-Marie-Tooth neuropathy Dopamine receptor Coagulation factor XI Glutaricaciduria, type IIC Charcot-Marie-Tooth neuropathy Obesity, susceptibility to Arthropathy, progressive pseudorheumatoid, of childhood Sialic acid storage disorder, infantile Limb-girdle muscular dystrophy, autosomal dominant Leukemia, acute Deafness, autosomal dominant susceptibility Psoriasis susceptibility Facioscapulohumeral muscular dystrophy Hypercalciuria Muscular dystrophy, limb-girdle, type 2F Rhizomelic chondrodysplasia punctata, type 1 Chorioretinal atrophy, progressive bifocal Pycnodysostosis Gaucher disease , autosomal recessive Myasthenic syndrome, slow-channel congenital Hypocalciuric hypercalcemia, type I Moebius syndrome Eutropenia, neonatal alloimmune Beukes familial dysplasia Treacher Collins-Franceschetti syndrome Carnitine deficiency, systemic primary Deafness Melanoma, absent in Vohwinkel syndrome with Medullary , autosomal dominant Convulsions, familial febrile Rhizomelic chondrodysplasia punctata, type 3 Neonatal Fletcher factor Facioscapulohumeral muscular dystrophy region Pituitary tumor-transforming gene Atrial septal defect with atrioventricular conduction defects Cardiomyopathy, dilated, autosomal dominant Metaphyseal chondrodysplasia, Schmid type Erythrokeratoderma, progressive symmetric Renal cell carcinoma, papillary Progressive intrahepatic cholestasis Cardiomyopathy, dilated , autosomal dominant Glaucoma, primary open angle Coagulation factor XII (Hageman factor) multiplex congenital, neurogenic Human immunodeficiency virus type I susceptibility Spondylometaphyseal dysplasia, Japanese type Anemia, hemolytic Insensitivity to , congenital, with anhidrosis Edstrom myopathy Duane retraction syndrome , essential Myeloid , predisposition to Leukemia, acute promyelocytic, NPM/RARA type Epilepsy, myoclonic, Lafora type Hepatic fibrosis susceptibility Elliptocytosis Medullary thyroid carcinoma Mesomelic dysplasia, Kantaputra type , type II Propionicacidemia, type II or pccB Usher syndrome (Finland) Craniosynostosis, type 2 Vascular endothelial Opioid receptor Oculodentodigital dysplasia ( type III) Pyropoikilocytosis Hyperlipidemia, familial combined Cardiomyopathy, familial hypertrophic Colorectal cancer, hereditary nonpolyposis, type 3 Hailey-Hailey disease Nephronophthisis, adolescent Parietal foramina , hereditary receptor Hereditary persistence of fetal hemoglobin, heterocellular Spherocytosis, recessive Hyperparathyroidism Bardet-Biedl syndrome Neurogenic differentiation Retinitis pigmentosa, autosomal dominant and recessive Ataxia Leukotriene C4 synthase deficiency Breast cancer Schizophrenia Lymphoma, progression of Ehlers-Danlos syndromes Arrhythmogenic right ventricular dysplasia Night blindness, congenital stationery, rhodopsin-related Dopamine receptor Pancreatitis, hereditary Estrogen resistance Leukemia Lupus , susceptibility to Porphyria variegata , familial arterial , neonatal transient , juvenile-onset and congenital Myeloid leukemia factor, acute Hermansky-Pudlak syndrome Insulin-like growth factor-2 receptor Immune interferon, receptor for Migraine, familial hemiplegic Hemorrhagic diathesis Diabetes mellitus, insulin-dependent Cataracts Common acute lymphocytic leukemia antigen Ectropic viral integration site (oncogene EVI1) Hepatocellular carcinoma Mycobacterial infection, atypical, familial disseminated Emery-Dreifuss muscular dystrophy Thromboembolism susceptibility Primary pulmonary hypertension (familial primary) Paroxysmal nonkinesiogenic dyskinesia , epicanthus inversus and type 1 3q21q26 syndrome Tumorigenicity, suppression of BCG infection, generalized familial Cardiomyopathy, dilated Systemic lupus erythematosus, susceptibility Cleft palate, isolated Choreoathetosis, familial paroxysmal , systemic , familial, with neuroserpin inclusion bodies Loss of heterozygosity, ovarian , susceptibility to Lipodystrophy, familial partial Fish-odor syndrome Wrinkly syndrome Cerebrotendinous xanthomatosis Sucrose intolerance Diabetes mellitus, noninsulin-dependent Ovarian cancer, serous Diabetes mellitus, transient neonatal Dejerine-Sottas disease, P-related Prostate cancer, hereditary Amyotrophic lateral sclerosis, juvenile recessive Acyl-Coenzyme A dehydrogenase Cerebral cavernous malformations Fanconi-Bickel syndrome Myeloid/lymphoid or mixed-lineage leukemia Pleomorphic adenoma (ZAC tumor supressor) Hypomyelination, congenital Chronic granulomatous disease Lactic acidosis due to defect in -sulfur cluster of complex I Carbamoylphosphate synthetase I Myelodysplasia syndrome Pancreatic beta cell, agenesis of Parkinson disease, juvenile, type 2 Nemaline myopathy, autosomal dominant , age-related Ichthyosis Waardenburg syndrome, types I and III Apnea, postanesthetic Eukaryotic translation initiation factor (squamous cell lung cancer) Plasminogen Tochigi disease Lupus erythematosus, systemic, susceptibility Epidermolysis bullosa Finnish lethal neonatal metabolic syndrome Rhabdomyosarcoma, alveolar Ovarian cancer Limb-mammary syndrome , ligneous Thrombophilia, dysplasminogenemic Neutropenia, alloimmune neonatal Chitotriosidase deficiency T-cell leukemia or lymphoma Craniofacial-deafness-hand syndrome Megakaryocyte growth and development factor Tumor protein p63 Coronary artery disease, susceptibility to Plasminogen deficiency, types I and II Fold Viral , recurrent Pseudohypoaldosteronism, type II Bjornstad syndrome ( and deafness) , type A1 Thrombocythemia, essential , ectodermal dysplasia, and cleft lip/palate syndrome Complex neurologic disorder Fold Antithrombin III deficiency Hypokalemic periodic Myopathy, -related, cardioskeletal Goodpasture antigen Peroxisomal bifunctional deficiency Optic atrophy Xeroderma pigmentosum, variant type , susceptibility to Malignant hyperthermia susceptibility Cardiomyopathy, dilated Serotonin receptor Thrombophilia due to HRG deficiency Glaucoma Glomerulopathy with fibronectin deposits Natural resistance-associated protein Leukoencephalopathy with vanishing Bernard-Soulier syndrome, type C melanoma-associated Tumor potentiating region Metastasis suppressor Hyperoxaluria, primary, type 1 Programmed cell death Lipoma-preferred-partner gene fused with HMGIC 134 million base pairs Measles, susceptibility to , autosomal recessive Leigh syndrome, French-Canadian type Sjogren syndrome (lip pit syndrome) , familial benign damage, repair of Beckwith-Wiedemann syndrome Freeman-Sheldon syndrome variant Coagulation factor deficiency Rippling muscle disease Brachydactyly-mental retardation syndrome Crigler-Najjar syndrome, type I Cyclin-dependent kinase inhibitor Jansky-Bielschowsky disease Alzheimer disease -retardation-dysmorphism syndrome Dopamine receptor Diabetes mellitus, insulin-dependent Cardiomyopathy , stress-induced polymorphic Epidermolysis bullosa Autonomic dysfunction Sickle cell anemia Factor H deficiency deficiency Long QT syndrome Thalassemias, beta Membroproliferative Chediak-Higashi syndrome Jervell and Lange-Nielsen syndrome Erythremias, beta 132 million base pairs Hemolytic-uremic syndrome Muckle-Wells syndrome Thalassemia Heinz body , beta Nephropathy, chronic hypocomplementemic Zellweger syndrome 135 million base pairs Diabetes mellitus, rare form HPFH, type Lupus erythematosus Dentatorubro-pallidoluysian atrophy Epidermolysis bullosa Adrenoleukodystrophy, neonatal Hyperproinsulinemia, familial Bladder cancer Hypophosphatemic , autosomal dominant Emphysema Popliteala pterygium syndrome Endometrial bleeding-associated factor , adult Suppression of tumorigenicity, prostate Breast cancer Wilms tumor, type 2 Coagulation factor VIII (von Willebrand factor) Alzheimer disease, susceptibility to Ectodermal dysplasia/ Left-right axis malformation Hypoparathyroidism, deafness, renal dysplasia Prostate adenocarcinoma Rhabdomyosarcoma Adrenocortical carcinoma, hereditary Tumor necrosis factor receptor superfamily Inflammatory bowel disease Usher syndrome, type 2A Prostate cancer, hereditary DiGeorge syndrome/velocardiofacial syndrome 11 Interleukin receptor, alpha chain, deficiency of Lung cancer Sjogren syndrome antigen Periodic , familial Leukemia, acute lymphoblastic Kenny-Caffey syndrome Chondrodysplasia punctata, rhizomelic, type 2 Leukemia Arrhythmogenic right ventricular dysplasia Segawa syndrome, recessive Niemann-Pick disease, types A and B Hypertension, essential, susceptibility to Diphenylhydantoin toxicity Thrombocytopenia Myasthenic antigen B Hypoparathyroidism, dominant and recessive Periodic fever, familial (Hibernian fever) Leukemia factor, myeloid 136 million base pairs Osaka thyroid oncogene Lambert-Eaton syndrome Tumor susceptibility gene Persistent hyperinsulinemic hypoglycemia of infancy / syndrome Spastic paraplegia, autosomal dominant Ewing Sarcoma Megaloblastic anemia Breast cancer Deafness, autosomal recessive Pseudohypoaldosteronism, type I Taste receptors 146 million base pairs Sex-reversal, autosomal Ovarian cancer Obesity, susceptibility to Diabetes mellitus, insulin-dependent Usher syndrome Charcot-Marie-Tooth disease, type 4B Hemolytic anemia Glycogen storage disease, type 0 Hyperglycinemia, nonketotic , brown and rufous Multiple endocrine neoplasia Severe combined immunodeficiency disease, Athabascan Atrophia areata Leukemia, T-cell acute lymphoblastic Diabetes-associated peptide (amylin) Hypertension with brachydactyly Suppression of tumorigenicity, Interferon, alpha, deficiency Medullary thyroid carcinoma 12 Epilepsy, progressive, with mental retardation , primary autosomal recessive Cockayne syndrome, type B Fanconi anemia, complementation group F Hepatitis B virus integration site Lactate dehydrogenase-B deficiency Alzheimer disease, familial Diaphyseal medullary stenosis Leukemia Hirschsprung disease Cerebrooculofacioskeletal syndrome Leukemia, myeloid and lymphycytic Hepatocellular carcinoma Colorectal cancer Retinoblastoma-binding protein 158 million base pairs Keratolytic winter Hyperlipoproteinemia Melanoma 10 Cyclin-dependent kinase inhibitor Prostate cancer tumor suppressor, putative Chylomicronemia syndrome, familial Thyroid papillary carcinoma Opsonic defect Acatalasemia Lacticacidemia Fibrosis of , autosomal dominant Ichthyosis bullosa of Siemens Trichoepithelioma, multiple familial Venous malformations, multiple cutaneous and mucosal Deafness, autosomal recessive Chronic infections T-cell leukemia/lymphoma Adrenoleukodystrophy Telangiectasia, hereditary hemorrhagic Ewing sarcoma Lunatic fringe Liver cancer, deleted in Combined hyperlipemia, familial Immotile cilia syndrome Arthrogryposis multiplex congenita, distal, type 1 Serotonin receptor Retinal nonattachment, nonsyndromic congenital Peters anomaly Diabetes mellitus, noninsulin-dependent Palmoplantar , Bothnia type Leukemia: myeloid, lymphoid, or mixed-lineage Turcot syndrome with glioblastoma Craniosynostosis, type 1 Alopecia universalis Farber lipogranulomatosis -hair hypoplasia Galactosemia Moebius syndrome Cardiomyopathy, dilated, autosomal dominant , congenital Xeroderma pigmentosum, group E Melanoma Allgrove syndrome Colorectal cancer, hereditary nonpolyposis, type 4 Saethre-Chotzen syndrome Atrichia with papular lesions Hepatocellular cancer X-ray repair Acromesomelic dysplasia, Maroteaux type Hemolytic anemia Neuropathy, congenital hypomyelinating Foveal hypoplasia, isolated Cardiomyopathy, familial hypertrophic Rickets, vitamin D-resistant , nephrogenic, dominant and recessive Osteopenia/osteoporosis Blepharophimosis, epicanthus inversus, and ptosis Scurvy Colorectal cancer Fanconi anemia, complementation group G Myopathy, inclusion body, autosomal recessive Hyperphenylalaninemia Graves disease autoantigen Prostate cancer overexpressed gene Anti-Mullerian , type II Human papillomavirus type 18 integration site Macular dystrophy, dominant cystoid Deafness, autosomal dominant Schizophrenia susceptibility locus Hemolytic anemia Sialuria Hypomagnesemia with secondary hypocalcemia Metachromatic , persistent, autosomal dominant Severe combined immunodeficiency, -negative Coagulation factor II (thrombin) Persistent Mullerian duct syndrome, type II Epidermolytic Retinitis pigmentosa Myeloid leukemia Plasminogen activator deficiency Hypotrichosis, Marie Unna type 9 Hyperoxaluria, primary, type II Friedreich ataxia Gaucher disease, variant form Hemophagocytic lymphohistiocytosis, familial Reticulosis, familial histiocytic Hypoprothrombinemia Activating transcription factor 1 Keratoderma, palmoplantar, nonepidermolytic deficient dwarfism Cerebral cavernous malformations Spastic paraplegia, autosomal recessive Torsion , adult onset, of mixed type Cardiomyopathy Geniospasm SEMD, Pakistani type Retinitis pigmentosa, autosomal recessive and dominant Omenn syndrome Dysprothrombinemia Soft tissue clear cell sarcoma Cyclic ichthyosis with epidermolytic hyperkeratosis Hand-foot-uterus syndrome Wilms tumor suppressor locus Lipoid adrenal hyperplasia 8 Deafness, autosomal recessive Bleeding diathesis Hermansky-Pudlak syndrome Urofacial syndrome (Ochoa syndrome) Wilms tumor, type 1 Complement component inhibitor Myopathy, congenital Monocytic leukemia Spherocytosis Hyperinsulinism, familial Amphiphysin (Stiff-Man syndrome) Choreoacanthocytosis Hemophagocytic lymphohistiocytosis, familial Retinitis pigmentosa Breast cancer Hypoglobulinemia and absent B cells Denys-Drash syndrome Angioedema, hereditary Meesmann corneal dystrophy Charcot-Marie-Tooth neuropathy, neuronal type D Greig cephalopolysyndactyly syndrome Prostate-specific gene Chondrosarcoma, extraskeletal myxoid Pleomorphic adenoma Chondrocalcinosis, with early-onset osteoarthritis Multiple advanced Hyperinsulinism- syndrome Frasier syndrome Smith-Lemli-Opitz syndrome, types I and II Epidermolysis bullosa simplex Fundus albipunctatus Alpha-ketoglutarate dehydrogenase deficiency Pallister-Hall syndrome Bamforth-Lazarus syndrome Pseudohermaphroditism, male, with gynecomastia 7 ACTH deficiency Opiate receptor, kappa Cowden disease Spastic paraplegia Foramina parietalia permagna (Catlin marks) IgE responsiveness, atopic Cataract, polymorphic and lamellar Glioma Myopathy kinase-like orphan receptor Convulsions, familial febrile pleomorphic adenoma Lhermitte-Duclos syndrome Dubin-Johnson syndrome Exostoses, multiple Bardet-Biedl syndrome Sarcoma amplified sequence T-cell tumor invasion and metastasis Glioblastoma amplified sequence Brachydactyly, type B1 HDL deficiency, familial Ataxia with isolated vitamin E deficiency Duane retraction syndrome Bannayan-Zonana syndrome Warfarin sensitivity Suppression of tumorigenicity, prostate Kaposi sarcoma Enuresis, nocturnal Stickler syndrome, type I Argininosuccinicaciduria Spinal muscular atrophy, distal Nephronophthisis (infantile) Fanconi anemia, type C Achromatopsia Charcot-Marie-Tooth neuropathy, autosomal recessive Endometrial carcinoma Wolman disease Prostate cancer Diabetes mellitus, insulin-dependent Achondrogenesis-, type II SED congenita Hyperreflexia , susceptibility to Neuropathy, sensory and autonomic, type 1 Xeroderma pigmentosum CMO II deficiency Branchiootorenal syndromes Polyposis, juvenile intestinal Cholesteryl ester storage disease Spinocerebellar ataxia Meckel syndrome, type 2 Osteoarthrosis, precocious Clostridium perfringens enterotoxin receptor Limb-girdle muscular dystrophy, autosomal dominant Fructose intolerance Epithelioma, self-healing, squamous Zellweger syndrome Branchiootic syndrome Prostate cancer Tumor necrosis factor receptor superfamily, member 6 Hyperlipidemia, combined Leigh syndrome Wagner syndrome, type II Glycogen storage disease Supravalvar aortic stenosis Platelet IV deficiency Basal cell carcinoma, sporadic Leukemia, T-cell acute lymphoblastic Progressive external ophthalmoplegia Autoimmune lymphoproliferative syndrome Osteoarthritis susceptibility, female-specific SMED, Strudwick type Rickets, pseudovitamin D deficiency Williams-Beuren syndrome Cerebral cavernous malformations Refsum disease, infantile form Adrenal hyperplasia, congenital Muscular dystrophy, Fukuyama congenital Muscular dystrophy, limb-girdle, type 2H Corneal dystrophy, Thiel-Behnke type Epidermolysis bullosa, generalized atrophic benign Xeroderma pigmentosum, group E, subtype 2 McArdle disease Scapuloperoneal syndrome Interferon, immune, deficiency Cutis laxa Colon cancer Lymphoma, non-Hodgkin Aldosteronism Basal cell nevus syndrome Bladder cancer Leukemia, T-cell acute lymphocytic Optic with renal disease High mass Somatotrophinoma Sanfilippo syndrome, type D plana congenita, recessive Cytoplasmic linker Zellweger syndrome Colon adenocarcinoma Nijmegen breakage syndrome Dysautonomia (Riley-Day syndrome) Sex reversal, XY, with adrenal failure Spinocerebellar ataxia, infantile-onset Prostate cancer Osteoporosis-pseudoglioma syndrome UV radiation resistance-associated gene Lipoma Growth retardation with deafness and mental retardation Williams-Beuren syndrome region 4 Adrenoleukodystrophy, neonatal Dihydropyrimidinuria Giant cell hepatitis, neonatal Esophageal cancer Leukemia transcription factor, pre-B-cell Split hand/foot malformation, type 3 Neurofibrosarcoma Parathyroid adenomatosis Vitreoretinopathy Salivary adenoma Spinal muscular atrophy, congenital nonprogressive Chronic granulomatous disease Refsum disease, infantile Cohen syndrome Renal tubular acidosis-osteopetrosis syndrome Endotoxin hyporesponsiveness Porphyria, acute hepatic Polycystic kidney disease Porphyria, congenital erythropoietic Centrocytic lymphoma Leukemia/lymphoma, B-cell Uterine Cardiomyopathy, hypertrophic Malignant hyperthermia susceptibility Mucopolysaccharidosis Glaucoma, open angle Segmentation syndrome Amyotrophic lateral sclerosis, juvenile dominant , susceptibility to Meningioma-expressed antigen Endometrial carcinoma Multiple myeloma Pyruvate carboxylase deficiency , high grade, autosomal dominant Brachydactyly, type C P-glycoprotein/multiple drug resistance Osteoporosis, postmenopausal, susceptibility Epidermolysis bullosa simplex, Ogna type Spastic paraplegia Berardinelli-Seip congenital lipodystrophy Adrenal hyperplasia, congenital Gyrate atrophy of and retina Mammary tumor and squamous cell carcinoma Usher syndrome, type 1B Darier disease Colchicine resistance Citrullinemia, adult-onset type II Neuropathy, hereditary motor and sensory Brain-specific angiogenesis inhibitor Dystonia, torsion, autosomal dominant Dopamine-beta-hydroxylase deficiency Diabetes mellitus, insulin-dependent Pancreatic lipase deficiency Anemia, pernicious, congenital Papillon-Lefevre syndrome Spinocerebellar ataxia Cardiofaciocutaneous syndrome Cholestasis Ulcerative colitis, susceptibility to Epilepsy Papillomavirus type 18 integration site Lethal congenital syndrome Amyloidosis, Finnish type Anterior segment mesenchymal dysgenesis Glaucoma Multiple endocrine neoplasia Albinism, oculocutaneous, type IA Mevalonicaciduria , type III Split hand/foot malformation (ectrodactyly) type 1 Adenoma, down-regulated in Oncogene PVT (MYC activator) Muscular dystrophy with epidermolysis bullosa Leukemia, acute undifferentiated Microcephaly, primary autosomal recessive Cataract, congenital Pfeiffer syndrome Hyperparathyroidism Waardenburg syndrome Hyperimmunoglobulinemia D and periodic fever Lymphoma, B-cell non-Hodgkin, high-grade Paraoxonase Chloride , congenital, Finnish type Nephroblastoma overexpressed gene Macular dystrophy, atypical vitelliform Leigh syndrome Malignant brain tumors , carcinoid syndrome Spinal muscular atrophy Holt-Oram syndrome Coronary artery disease, susceptibility to Cardiomyopathy, familial hypertrophic Exostoses, multiple, type 1 Renal cell carcinoma Hemolytic anemia Leukemia Glioblastoma multiforme Saethre-Chotzen syndrome Asthma, atopic, susceptibility to Lung cancer Phenylketonuria intolerance, acute Plasminogen activator inhibitor, type I Renal cell carcinoma, papillary, familial and sporadic Chondrosarcoma Langer-Giedion syndrome Telangiectasia, hereditary hemorrhagic Nail-patella syndrome Medulloblastoma Leukemia, acute promyelocytic Ataxia-telangiectasia Ulnar-mammary syndrome Tumor rejection antigen Thrombophilia Hepatocellular carcinoma, childhood type Trichorhinophalangeal syndrome type I Ehlers-Danlos syndrome, types I and II Prostaglandin D2 synthase (brain) Crouzon syndrome Polykaryocytosis inducer (promoter) Retinitis pigmentosa, digenic T-cell prolymphocytic leukemia, sporadic Diabetes mellitus Human immunodeficiency virus-1 expression Hemorrhagic diathesis Speech-language disorder Prostate antigen Hypothyroidism, hereditary congenital Pituitary hormone deficiency Jackson-Weiss syndrome Usher syndrome, autosomal recessive, severe Cervical carcinoma Lymphoma, B-cell non-Hodgkin Maturity-Onset Diabetes of the Young Amyloidosis, renal Hemochromotosis Basal cell carcinoma, sporadic Rothmund-Thomson syndrome Goiter, adolescent multinodular and nonendemic Leukemia, T-cell acute lymphoblastic Beare-Stevenson cutis gyrata syndrome Macular dystrophy, vitelliform type (Best disease) Breast cancer Oral cancer Retinitis pigmentosa, autosomal dominant Spinal muscular atrophy with respiratory distress Myopathy, desmin-related, cardioskeletal Ehlers-Danlos syndrome, type VIIA2 Paraganglioma or familial glomus tumors ApoA-I and apoC-III deficiency Osteoporosis, idiopathic Congenital bilateral absence of vas deferens Folate receptor, adult Hypertriglyceridemia , atypical Sweat chloride elevation without CF T-cell immune regulator Hypoalphalipoproteinemia Deafness, autosomal recessive Colorblindness, blue cone pigment Osteopetrosis, recessive Corneal clouding, autosomal recessive Leukemia, acute myeloid and T-cell lymphoblastic Amyloidosis Deafness, autosomal recessive Glaucoma, open angle Ataxia-telangiectasia-like disorder Dopamine receptor Enlarged vestibular aqueduct Human ether-a-go-go-related gene Apoptosis inhibitor Dystonia, myoclonic Lipoamide dehydrogenase deficiency Long QT syndrome Deafness, autosomal dominant and recessive Ectodermal dysplasia, type 4 (Margarita type) Hemolytic anemia Preeclampsia, susceptibility to Phenylketonuria Hypomagnesemia, renal Suppression of tumorigenicity (breast) Coronary , susceptibility to 90 million base pairs Hypertriglyceridemia Leukemia, myeloid/lymphoid or mixed-lineage Obesity Holoprosencephaly Immunodeficiency Lung cancer, non small-cell Taste receptors Serotonin receptor Methemoglobinemias, alpha Thalassemia, alpha Erythrocytosis, autosomal recessive benign Hydrolethalus syndrome Renal tubular acidosis, distal, autosomal recessive Growth rate controlling factor Erythremias, alpha Erythrocytosis 105 million base pairs Glycogen storage disease Porphyria, acute, Chester type Deafness, autosomal recessive Heinz body anemias, alpha Heinz body anemia Megaloblastic anemia syndrome Trypsinogen deficiency Sacral agenesis Alpha-thalassemia/mental retardation Hemoglobin H disease Chorea, hereditary benign calcification (Fahr disease) Paragangliomas, familial nonchromaffin Friend leukemia virus integration Pancreatitis, hereditary Triphalangeal thumb-polysyndactyly syndrome Axis inhibitor Hypochromic Meningioma-expressed antigen Multinodular goiter Herpes virus entry mediator Ewing sarcoma Glaucoma-related pigment dispersion syndrome X-ray repair Hepatocellular carcinoma GABA-transaminase deficiency Myopathy, distal Retinitis pigmentosa, autosomal dominant Epstein-Barr virus modification site with joint and deafness Defender against cell death Rubenstein-Taybi syndrome Cataract, congenital, with Leukemia/lymphoma, T-cell Serotonin receptor Opioid-binding protein/cell adhesion molecule Temperature-sensitive apoptosis Oculopharyngeal muscular dystrophy, autosomal recessive Tuberous sclerosis Polycystic kidney disease, infantile severe Bartter syndrome, type 2 Lysinuric protein intolerance APEX nuclease (multifunctional DNA repair enzyme) Porphyria, acute intermittent Polycystic kidney disease, adult type I -specific protease, herpes virus-associated

Ichthyosis, lamellar, autosomal recessive Cardiomyopathy, familial hypertrophic Leukemia, acute myelomonocytic Xeroderma pigmentosum, group F Ichthyosiform erythroderma, congenital Oligodontia Microhydranencephaly Spastic paraplegia Goiter, familial 16 Epilepsy, myoclonic, infantile Tamm-Horsfall glycoprotein Deafness, autosomal recessive Carbohydrate-deficient glycoprotein syndrome, type II MHC class II deficiency Cerebellar degeneration-related antigen Deafness, autosomal dominant Elliptocytosis 113 million base pairs Meniere disease 14Spherocytosis Retinitis pigmentosa Familial Mediterranean fever Arrhythmogenic right ventricular dysplasia Anemia, neonatal hemolytic, fatal and near-fatal Atopy, susceptibility to Liddle syndrome -lowering factor Cataract, zonular pulverulent Immunodeficiency Arrhythmogenic right ventricular dysplasia Glycogenosis, hepatic, autosomal Pseudohypoaldosteronism, type I Deafness, autosomal dominant and recessive Stem-cell leukemia/lymphoma syndrome Glycogen storage disease Marfan syndrome, atypical Medullary cystic kidney disease, autosomal dominant Batten disease Vohwinkel syndrome Spastic ataxia, Charlevoix-Saguenay type Phenylketonuria, atypical DNA mismatch repair gene MLH3 Convulsions, infantile and paroxysmal choreoathetosis , familial Ectodermal dysplasia Pancreatic agenesis Dystonia, DOPA-responsive Diabetes mellitus, insulin-dependent Arthrocutaneouveal granulomatosis (Blau syndrome) Muscular dystrophy, limb-girdle, type 2C Maturity Onset Diabetes of the Young, type IV Leber congenital amaurosis, type III Krabbe disease 100 million base pairs Retinoblastoma-binding protein Paroxysmal kinesigenic choreoathetosis Breast cancer, early onset Enuresis, nocturnal Tyrosinemia, type Ib Hypothyroidism, congenital Wilms tumor Inflammatory bowel disease (Crohn disease) Dementia, familial British Alzheimer disease Thyroid adenoma, hyperfunctioning Hypertension, essential, susceptibility to Prader-Willi/ (paternally imprinted) Pancreatic cancer Hypodontia, autosomal recessive Myxoid liposarcoma, fusion gene in Disrupted in B-cell neoplasia Rieger syndrome, type 2 Machado-Joseph disease Graves disease CLL/lymphoma, B-cell , brown Cylindromatosis, familial Leukemia, chronic lymphocytic, B-cell X-ray sensitivity Ovarian cancer Hyperthroidism, congenital Lymphoma, diffuse large cell Human coronavirus sensitivity Cocaine- and antidepressant-sensitive Spiegler-Brooke syndrome MHC class II deficiency, group B Rhabdomyosarcoma, alveolar Microphthalmia, autosomal recessive Usher syndrome, autosomal recessive Necdin Albinism, oculocutaneous, type II and ocular Orthostatic intolerance Townes-Brocks syndrome Hyperornithinemia, hyperammonemia, homocitrullinemia Lung cancer, non small-cell Cerebrovascular disease, occlusive Emphysema-cirrhosis Prader-Willi syndrome Andermann syndrome Leukemia, acute myelogenous Serotonin receptor 13Spinocerebellar ataxia Leukemia/lymphoma, T-cell Hemorrhagic diathesis Macular dystrophy, corneal Retinoblastoma Angelman syndrome Cardiomyopathy, dilated and familial hypertrophic Retinoblastoma Ceroid-lipofuscinosis, neuronal Agammaglobulinemia X-ray repair Hair color, brown Epilepsy, juvenile myoclonic Cataract, Marner type Osteosarcoma Microcoria, congenital Achromatopsia Bardet-Biedl syndrome Spastic paraplegia Spinocerebellar ataxia Norum disease Fold Bladder cancer Schizophrenia susceptibility Fish- Leukemia, acute myeloid, M4Eo subtype Fold Limb deformity Microcephaly, primary autosomal recessive Pinealoma with bilateral retinoblastoma Xeroderma pigmentosum, group G Tyrosinemia, type II Ras-related gene associated with diabetes Wilson disease Coagulation Factor VII deficiency Schizophrenia, neurophysiologic defect in Dyserythropoietic anemia, congenital, type I Breast cancer antiestrogen resistance Endometrial carcinoma Postaxial polydactyly, type A2 Oguchi disease Isovalericacidemia Muscular dystrophy, limb-girdle, type 2A 15 Fibrosis of extraocular muscles, congenital Ovarian carcinoma Hirschsprung disease Stargardt disease, autosomal dominant Spherocytosis, hereditary, Japanese type Dyslexia Breast cancer, lobular Propionicacidemia, types I or pccA Coagulation Factor X deficiency Bartter syndrome Amyloidosis, hemodialysis-related Fanconi anemia, complementation group A Gastric cancer, familial Holoprosencephaly Breast cancer, ductal Amytrophic lateral sclerosis, juvenile recessive Ceroid-lipofuscinosis, neuronal, late infantile Lymphedema with distichiasis Benzene toxicity, susceptibility to Bile acid , primary Dyserythropoietic anemia, congenital, type III Gynecomastia, familial Spastic paraplegia Leukemia, postchemotherapy, susceptibility to Virilization, maternal and fetal Chronic granulomatous disease, autosomal Spinocerebellar ataxia Deafness, autosomal recessive Colorectal cancer Stomatocytosis, dehydrated hereditary Hepatic lipase deficiency Carbohydrate-deficient glycoprotein syndrome, type Ib Urolithiasis, 2,8-dihydroxyadenine Pseudohyperkalemia, familial Marfan syndrome Bardet-Biedl syndrome Mucopolysaccharidosis

Shprintzen-Goldberg syndrome Tay-Sachs disease UV-induced skin damage, vulnerability to

Ectopia lentis, familial GM2-gangliosidosis Leukemia, acute promyelocytic, PML/RARA type Tyrosinemia, type I Cardiomyopathy, familial hypertrophic Mental retardation, severe 76 million base pairs Enhanced S-cone syndrome Hypercholesterolemia, familial, autosomal recessive Glutaricaciduria, type IIA Retinitis pigmentosa, autosomal recessive Myopia, high grade, autosomal dominant Parkinson disease, susceptibility to Epilepsy, nocturnal frontal lobe, type 2 Otosclerosis Holoprosencephaly Glucocorticoid deficiency PAPA syndrome Torsion dystonia, adult-onset, focal Schizophrenia Diabetes mellitus, insulin-dependent 63 million base pairs Orthostatic hypotensive disorder of Streeten Niemann-Pick disease, types C1 and D Hepatitis B virus integration site Epidermolysis bullosa Coxsackie virus sensitivity Ataxia, cerebellar, Cayman type Retinoblastoma-binding protein Cyclic hematopoiesis Convulsions, familial febrile 81 million base pairs Amyloid neuropathy, familial Keratosis palmoplantaris striata Fucosyltransferase-6 deficiency Guanidinoacetate methyltransferase deficiency Amyloidosis, senile systemic Cholestasis A Closer Look Hypocalciuric hypercalcemia, type II Muscular dystrophy Canavan disease Bernard-Soulier syndrome Carpal tunnel syndrome, familial Osteosarcoma Leukemia, myeloid/lymphoid or mixed-lineage Hirschsprung disease Ovarian cancer Breast cancer-related regulator of TP53 vulgaris antigen Cone dystrophy Wegener granulomatosis autoantigen Peutz-Jeghers syndrome Miller-Dieker syndrome Hypermethylated in cancer Diabetes mellitus, insulin-dependent 18Carnosinemia Bleeding disorder Leukemia, acute lymphoblastic Retinitis pigmentosa Lissencephaly Pancreatic cancer Protoporphyria, erythropoietic Persistent Mullerian duct syndrome, type I Atherosclerosis, susceptibility to Tumor protein p53 Subcortical laminar heterotopia Polyposis, juvenile intestinal Squamous cell carcinoma are tightly coiled microscopic single gene. Many common such as diabetes, Mucolipidosis Malaria, cerebral, susceptibility to Colorectal cancer Leber congenital amaurosis, type I Leukemia/lymphoma, B-cell Osteolysis, familial expansile Glutaricaciduria, type I Sicca syndrome

Li-Fraumeni syndrome Medulloblastoma Colorectal cancer Obesity, autosomal dominant 153 million base pairs Leprechaunism Glioblastoma Lymphoma/leukemia, B-cell, variant Paget disease of bone structures made up mainly of DNA, which hypertension, deafness, and cancers have more complex 19Thyroid carcinoma, nonmedullary , nephropathic Cataract, anterior polar Rabson-Mendenhall syndrome Short stature, idiopathic familial Diabetes mellitus, noninsulin-dependent Myasthenia gravis, familial infantile Combined factor V and VIII deficiency Methemoglobinemia Hodgkin disease susceptibility, pseudoautosomal Diabetes mellitus, insulin-resistant Low density lipoprotein receptor Leri-Weill dyschondrosteosis Cone dystrophy Bruck syndrome Tumor necrosis factor receptor superfamily consists of four different building blocks causes that may be a combination of sequence variations Ichthyosis Ichthyosis Hypercholesterolemia, familial Langer mesomelic dysplasia Myasthenic syndrome Sjogren-Larsson syndrome Microphthalmia, dermal aplasia, and sclerocornea Leukemia, T-cell acute lymphoblastoid Arteriopathy, cerebral 17 Leukemia, acute myeloid, M2 type Episodic Liposarcoma Deafness, autosomal recessive Charcot-Marie-Tooth neuropathy called bases (A, T, C, and G). The four bases are repeated in several genes on different chromosomes, in addition to Chondrodysplasia punctata Smith-Magenis syndrome Dejerine-Sottas disease Mental retardation Mycobacterial and salmonella infections, susceptibility to Epiphyseal dysplasia, multiple VLCAD deficiency Van der Woude syndrome modifier and sensorineural deafness Eye color, green/blue Severe combined immunodeficiency disease millions of times to form each chromosome. The entire environmental factors. Ocular albinism, Nettleship-Falls type Maturity Onset Diabetes of the Young, type V Choroidal dystrophy, central areolar , familial Hair color, brown Oral-facial-digital syndrome Hypertension, essential, susceptibility to Huntingtin-associated protein Charcot-Marie-Tooth disease, recessive Episodic ataxia, type 2 Leigh syndrome Nance-Horan cataract-dental syndrome T-cell immunodeficiency, alopecia, and nail dystrophy Psoriasis susceptibility consists of 23 pairs of chromosomes with Keratosis follicularis spinulosa decalvans Ataxia, spinocerebellar and cerebellar MHC class II deficiency Heterocellular hereditary persistence of fetal hemoglobin Chondrosarcoma, extraskeletal myxoid Epidermolysis bullosa , hereditary Leukemia, acute myeloid Exostoses, multiple, type 3 Pyruvate dehydrogenase deficiency Neurotransmitter transporter, serotonin (anxiety-related) Alzheimer disease, susceptibility to one chromosome in every pair coming from each parent. In April 2003, scientists in the international Partington syndromeX Mannosidosis, alpha, types I and II Benign familial infantile convulsions Glycogen storage disease , type 1 Van Buchem disease Alzheimer disease, late onset Leukemia/lymphoma, B-cell Coffin-Lowry syndrome Malignant hyperthermia susceptibility , XY female type Glomerulosclerosis, focal segmental Spondylocostal dysostosis, autosomal recessive With few exceptions (e.g., red blood cells), each of the Human Genome Project (HGP) completed Mental retardation Leukemia, juvenile myelomonocytic Leukemia, acute promyelocytic Mental retardation, non-dysmorphic Deafness, autosomal dominant Prostate-specific antigen Spondyloepiphyseal dysplasia tarda HIV-1 disease, delayed progression of Epidermolytic Agammaglobulinemia, type 2 Hypercalcemia, familial benign, Oklahoma type, type III Spastic paraplegia , autosomal dominant Paroxysmal nocturnal hemoglobinuria Meesmann corneal dystrophy Pachyonychia congenita, Jadassohn-Lewandowsky type trillions of cells in the human body contains a complete set a highly accurate, 3-billion base pair human Craniofrontonasal dysplasia Orofacial cleft Cystinuria, types II and III Infantile spasm syndrome Muscular dystrophy, limb-girdle Keratoderma, nonepidermolytic palmoplantar Opitz G syndrome, type I Charcot-Leyden crystal protein , congenital, Finnish type 46 million base pairs Epidermolysis bullosa simplex, recessive Sclerosteosis Pigment disorder, reticulate Hemolytic anemia Generalized epilepsy with febrile plus of chromosomes—the genome. genome reference DNA sequence. The completion of the Deafness, sensorineural Pachyonychia congenita, Jackson-Lawler type Muscular dystrophy, Duchenne-like, type 2 Melanoma Ovarian carcinoma Coxsackie and adenovirus receptor Myeloproliferative syndrome, transient Simpson-Golabi-Behmel syndrome, type 2 Adhalinopathy, primary Duchenne muscular dystrophy Malignant hyperthermia susceptibility Microcephaly, autosomal recessive Amyloidosis, cerebroarterial, Dutch type Leukemia, transient, of Adrenal hypoplasia, congenital Wilms tumor, type 4 Breast cancer, early onset HGP coincided with the 50th anniversary of the publication Becker muscular dystrophy Hyperlipoproteinemia, types Ib and III Alzheimer disease, APP-related Enterokinase deficiency Dosage-sensitive sex reversal Glycogen storage disease (von Gierke disease) Ovarian cancer Cardiomyopathy, dilated Osteodysplasia, polycystic lipomembranous Myocardial infarction susceptibility Schizophrenia, chronic Multiple carboxylase deficiency Deafness, congenital sensorineural Parkinsonism-dementia Leukemia, myeloid/lymphoid or mixed-lineage The color-banded figures in this poster are simplified of the structure of the DNA molecule by James Watson and Chronic granulomatous disease Maple syrup urine disease, type Ia Cytochrome P450 ( resistance) Usher syndrome, autosomal recessive T-cell lymphoma invasion and metastasis Retinitis pigmentosa Epidermolytic hyperkeratosis Breast cancer, sporadic Snyder-Robinson mental retardation Camurati-Engelmann disease Nicotine addiction, protection from Amytrophic lateral sclerosis Mycobacterial infection, atypical Wilson- Patella aplasia or hypoplasia Gliosis, familial progressive subcortical Myotonic dystrophy X-ray repair Oligomycin sensitivity Down syndrome (critical region) representations (ideograms) of chromosomes, which can be Francis Crick. This achievement earned them the Nobel Cone dystrophy Osteogenesis imperfecta Pseudohypoaldosteronism type II Exudative vitreoretinopathy , progressive familial, type I Excision repair Jervell and Lange-Nielsen syndrome Autoimmune polyglandular disease, type I Aland island eye disease (ocular albinism) Ehlers-Danlos syndrome, types I and VIIA Spherocytosis, hereditary Coats disease Optic atrophy Xeroderma pigmentosum, group D Long QT syndrome Bethlem myopathy Optic atrophy Osteoporosis, idiopathic Hemolytic anemia distinguished by observing their features through a light Prize and spawned the new field of molecular biology that Renpenning syndrome 3-methylglutaconicaciduria, type III Trichothiodystrophy Down syndrome cell adhesion molecule Epilepsy, progressive myoclonic Night blindness, congenital stationary, type 1 Ovarian carcinoma antigen Renal tubular acidosis, distal Retinitis pigmentosa, recessive Cystic fibrosis modifier DNA ligase I deficiency Homocystinuria Holoprosencephaly, alobar Erythroid-potentiating activity Neuroblastoma T-cell leukemia virus (I and II) receptor 21 microscope. Such features include length, position of a led to the inception of the HGP in 1990. DNA sequences Mental retardation, nonspecific and syndromic Meconium ileus in cystic fibrosis, susceptibility to Polio virus receptor Cataract, congenital, autosomal dominant Arthrogryposis multiplex congenita Glanzmann thrombasthenia, type A Dementia, frontotemporal, with Parkinsonism Dyserythropoietic anemia with thrombocytopenia Cone dystrophy Herpes virus entry mediator B Deafness, autosomal recessive Hemolytic anemia Night blindness, congenital stationary, type 2 Thrombocytopenia, neonatal alloimmune Trichodontoosseous syndrome Chondrodysplasia punctata, dominant Leber congenital amaurosis Glutaricaciduria, type IIB Myxovirus (influenza) resistance Breast cancer constricted region (centromere), and the particular are being obtained for the genomes of many other CLL/lymphoma, B-cell Glanzmann thrombasthenia, type B -immunodeficiency syndrome Retinitis pigmentosa, late-onset dominant Colorectal cancer Leukemia, acute myeloid Platelet disorder, with myeloid malignancy Wiskott-Aldrich syndrome Retinitis pigmentosa Symphalangism, proximal Renal cell carcinoma, papillary Diabetes mellitus, noninsulin-dependent Leukemia, T-cell acute lymphoblastic Thrombocytopenia Pituitary tumor, invasive Synostoses syndrome, multiple patterns of light and dark bands that result from treatment organisms as well and are critical for comparative studies Faciogenital dysplasia (Aarskog-Scott syndrome) Hyperferritinemia-cataract syndrome Shaw-related subfamily genes Dent disease Myocardial infarction, susceptibility to Chorioathetosis with mental retardation Hypogonadism, hypergonadotropic Melanoma inhibitory activity Nephrolithiasis, type I Alzheimer disease, susceptibility to Growth hormone deficiency leading to a greater understanding of human biology and Sarcoma, synovial Retinitis pigmentosa, autosomal dominant Cardiomyopathy, familial hypertrophic with stains. Hypophosphatemia, type III , atypical Myeloperoxidase deficiency Prieto syndrome Ectrodactyly, ectodermal dysplasia, cleft lip/palate , familial Cataracts Spinal muscular atrophy, lethal infantile that of all living organisms. Anemia, sideroblastic/hypochromic Fetal Alzheimer antigen Tylosis with esophageal cancer Migraine, familial typical Cerebellar ataxia Lung cancer, small-cell Adrenoleukodystrophy, pseudoneonatal insensitivity Renal cell carcinoma, papillary with autosomal sex reversal Deafness, autosomal dominant Genes are chromosome pieces whose base Spinal and bulbar muscular atrophy Diabetes mellitus, insulin-dependent Prostate cancer Apoptosis inhibitor Leukemia, acute myeloid, therapy-related Sutherland-Haan syndrome Perineal hypospadias Diabetes mellitus, type II Myasthenic syndrome, slow-channel congenital sequence (e.g., ATTCGGA) determines how, A New Era of Customized Medicine. Cognitive function, social Breast cancer, male, with Reifenstein syndrome Radical fringe Sanfilippo syndrome, types A and B Mental retardation, nonspecific Ectodermal dysplasia, anhidrotic when, and where the body makes each of the Knowing the DNA sequence is important Alpha-thalassemia/mental retardation 49 million base pairs Juberg-Marsidi syndrome 50 million base pairs many thousands of different required for life. because it affects responses to particular Cutis laxa, neonatal Sutherland-Haan syndrome DiGeorge syndrome FG syndrome Smith-Fineman-Myers syndrome Short stature homeo box, Y-linked Thrombophilia Velocardiofacial syndrome Immunodeficiency, moderate and severe Hemolytic anemia Short stature Rhabdoid predisposition syndrome, familial have an estimated 25,000 genes, with an average medicines, resistance to infections and toxins, and it may Miles- /hemolysis Leri-weill dyschondrosteosis Schizophrenia susceptibility locus Kanzaki disease Charcot-Marie-Tooth neuropathy, dominant Wieacker-Wolff syndrome Langer mesomelic dysplasia 63 million base pairs Bernard-Soulier syndrome, type B NAGA deficiency, mild length of about 3000 bases. Genes make up less than 2% even influence behavior. Sequence variations also can Mental retardation Torsion dystonia-parkinsonism, Filipino type Interleukin-3 receptor, Y chromosomal Giant platelet disorder, isolated Epilepsy, partial X-inactivation center Leukemia, myeloid/lymphoid or mixed-lineage Sex-determining region Y (testis-determining) Creutzfeldt-Jakob disease Diabetes insipidus, neurohypophyseal Hyperprolinemia, type I Glutathioninuria of human DNA; the remaining DNA has important but still cause or contribute to such disorders as those named on Premature ovarian failure Anemia, sideroblastic, with ataxia Gonadal dysgenesis, XY type Gerstmann-Straussler disease McKusick-Kaufman syndrome Cataract, cerulean, type 2 Opitz G syndrome, type II Arts syndrome Allan-Herndon syndrome Protocadherin 11, Y-linked Insomnia, fatal familial Cerebral amyloid angiopathy Leukemia, chronic myeloid Ubiquitin fusion degradation Cleft palate and/or Deafness Azoospermia factors Pantothenate kinase associated neurodegeneration Thrombophilia Ewing sarcoma Transcobalamin deficiency unknown functions that may include regulating genes and this poster. Male due to spermatogenic failure Alagille syndrome Myocardial infarction, susceptibility to Neuroepithelioma 22Heme oxygenase deficiency Epilepsy (Juberg-Hellman syndrome) Agammaglobulinemia Growth control, Y-chromosome influenced Li-Fraumeni syndrome Manic Fringe Y Corneal dystrophy Huntington-like neurodegenerative disorder maintaining the chromosome structure. Pelizaeus-Merzbacher disease Chromodomain proteins Inhibitor of DNA binding, dominant negative Anemia, congenital dyserythropoietic Fechtner syndrome Leukemia inhibitory factor Spastic paraplegia Mohr-Tranebjaerg syndrom Retinitis pigmentosa, Y-linked Facial anomalies syndrome Acromesomelic dysplasia, Hunter-Thompson type Amyotrophic lateral sclerosis Sorsby fundus dystrophy These new data and powerful DNA analysis tools will usher Alport syndrome Jensen syndrome Gigantism Brachydactyly, type C Pulmonary alveolar proteinosis Neurofibromatosis, type 2 Cowchock syndrome Lissencephaly Retinoblastoma Chondrodysplasia, Grebe type Meningioma, SIS-related Meningioma, NF2-related, sporadic , congenital generalized Bazex syndrome Rous sarcoma Hemolytic anemia Dermatofibrosarcoma protuberans Schwannoma, sporadic Researchers hunt for disease-associated genes by looking in a new era of medicine that could allow doctors to detect Ptosis, hereditary congenital Mental retardation with growth hormone deficiency 20 Giant-cell fibroblastoma Neurolemmomatosis Colon cancer Myeloid tumor suppressor Apoptosis inhibitor Mental retardation, South African type Fold Breast cancer Spinocerebellar ataxia Malignant mesothelioma, sporadic for base changes found only in the DNA of affected disease at earlier stages, make more accurate diagnoses, Panhypopituitarism Lymphoproliferative syndrome Fold Severe combined immunodeficiency Maturity Onset Diabetes of the Young, type 1 Waardenburg-Shah syndrome Deafness, autosomal dominant Thoracoabdominal syndrome X inactivation, familial skewed Hemolytic anemia Diabetes mellitus, noninsulin-dependent Yemenite deaf-blind syndrome Colorectal cancer individuals. Numerous disorders and traits mapped to and customize drugs and other medical treatments to Simpson-Golabi-Behmel syndrome, type 1 Pettigrew syndrome Obesity/hyperinsulinism Graves disease, susceptibility to Debrisoquine sensitivity Cardioencephalomyopathy, fatal infantile Split hand/foot malformation, type 2 Gustavson mental retardation syndrome , type Ia Epilepsy, nocturnal frontal lobe and benign neonatal, type 1 Polycystic kidney disease Adenylosuccinase deficiency Hypoparathyroidism Immunodeficiency, with hyper-IgM McCune-Albright polyostotic fibrous dysplasia Epiphyseal dysplasia, multiple Leukodystrophy, metachromatic Autism, succinylpurinemic particular chromosomes are displayed on this poster. fit an individual’s own DNA sequence. The eventual Mental retardation, Shashi type Retinitis pigmentosa Legend Somatotrophinoma Electro-encephalographic variant pattern Myoneurogastrointestinal encephalomyopathy Glucose/galactose malabsorption Lesch-Nyhan syndrome Wood neuroimmunologic syndrome Pituitary ACTH secreting adenoma Pseudohypoparathyroidism, type IB Leukoencephalopathy receptor, peripheral type Some disorders, such as cystic fibrosis (chr. 7) and sickle cell understanding of gene functions will lead to more HPRT-related gout Heterotaxy, visceral Regions reflecting the unique patterns of light and dark bands seen on Shah-Waardenburg syndrome Methemoglobinemia, types I and II Lowe syndrome Albinism-deafness syndrome human chomosomes stained to allow viewing through a light microscope. focused and effective treatments with fewer side effects. Borjeson-Forssman-Lehmann syndrome Cone dystrophy, progressive anemia (chr. 11), are caused by base sequence changes in a Testicular germ cell tumor Prostate cancer susceptibility Hemophilia B Fragile X mental retardation Warfarin sensitivity Epidermolysis bullosa, macular type The centromere, or constricted portion, of each chromosome. Osseous dysplasia (male lethal), digital Diabetes insipidus, nephrogenic Adrenoleukodystrophy Cancer/testis antigen Adrenomyeloneuropathy Dyskeratosis Chromosomal regions that vary in staining intensity and sometimes are Explore the Colorblindness, blue monochromatic Hemophilia A called heterochromatin (meaning “different color”). Cardiac valvular dysplasia Emery-Dreifuss muscular dystrophy Mucopolysaccharidosis Online!Gene Gateway Heterotopia, periventricular Intestinal pseudoobstruction, neuronal Variable regions, called stalks, that connect a very small chromosome Human Genome For More Information Favism Melanoma antigens Hemolytic anemia Mental retardation-skeletal dysplasia (a “satellite”) to the chromosome. www.ornl.gov/hgmis/posters/chromosome Colorblindness, green cone pigment Myotubular myopathy , type II Otopalatodigital syndrome, type I Step-by-step instructions for using the Web to learn about: Colorblindness, red cone pigment Information Sources • Careers in and the Biosciences: Resources MASA syndrome Goeminne TKCR syndrome • Human Genome Project Information: Comprehensive Spastic paraplegia Waisman parkinsonism-mental retardation Genes associated with the disorders and other traits listed on this poster were HGP information and a look at the “new biology” of for students and teachers Mature T-cell proliferation Cardiomyopathy, dilated selected from Online Mendelian Inheritance in Man (OMIM), which designated www.ornl.gov/hgmis/education/careers.shtml Myopia (Bornholm eye disease) Noncompaction of left ventricular myocardium the status of each of these as confirmed or provisional as of July 2000. Listing of the 21st century Mental retardation with Von Hippel-Lindau binding protein www.ornl.gov/hgmis/home.shtml Endocardial fibroelastosis genes on updated November 2002. The number of base pairs reported for each chromosome is based on finished human genome sequence • DOE Joint Genome Institute: Facility for integrated data from the National Center for Biotechnology Information Build 34, Version 2, Genetic Disorders • Genomics and Its Impact on Science and Society: high-throughput sequencing and computational analysis accessed February 4, 2004 (www.ncbi.nlm.nih.gov/genome/guide/human/). • Causes, inheritance, symptoms, diagnosis, A Primer http://jgi.doe.gov treatments www.ornl.gov/hgmis/publicat/primer/ • Associated genes • Ethical, Legal, and Social Issues: Implications • Genome Education Resources surrounding use of genome data • Support groups and organizations www.ornl.gov/hgmis/education/education.shtml www.ornl.gov/hgmis/elsi/elsi.shtml • Genetic health professionals • Articles and other materials • DOE Genomics:GTL: Explores how microbial and plant genomes function for bioenergy and other applications Poster Sponsor http://genomicsgtl.energy.gov U.S. Department of Energy Office of Science • Medicine and the New Genetics: How genetic www.sc.doe.gov technologies will revolutionize medicine www.ornl.gov/hgmis/medicine/medicine.shtml Poster Contacts Genes and Proteins Prepared by Judy Wyrick and Denise Casey • Nature Human Genome Collection: Detailed analyses Genome Management Information System Office of Science • Gene name, symbol, size, protein product of all the chromosomes Oak Ridge National Laboratory Biological and Environmental Research Program • Chromosome maps www.nature.com/nature/supplements/collections/ 1060 Commerce Park, MS 6480 humangenome Oak Ridge, TN 37830 • Gene and protein sequence data • Similar sequences in other organisms • National Human Genome Research Institute: National • Gene associated with disorders Institutes of Health genome program Free print copy: 865.574.0597 or Genomic Science Program • Molecular structures of proteins www.nhgri.nih.gov www.ornl.gov/hgmis/posters/chromosome genomics.energy.gov Y-12 Graphic Design Services Y-12 DISCLAIMER • For educational purposes only. This poster is not intended to provide medical advice. The extent of knowledge about any specific gene or disorder varies widely. For more detailed information, see the OMIM Web site (www.ncbi.nlm.nih.gov/Omim).

Revised November 2006 Fold