Cromosomes en Català

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Human Genome Landmarks

Selected Genes, Traits, and Disorders www.ornl.gov/hgmis/posters/chromosome
genomics.energy.gov
Cutaneous malignant melanoma/dysplastic nevus

Cataracts
Malignant transformation suppression
Ehlers-Danlos syndrome, type VI
Glaucoma, primary infantile
Hirschsprung disease, cardiac defects
Schwartz-Jampel syndrome
Hypophosphatasia, infantile, childhood
Breast cancer, ductal
p53-related protein
Serotonin receptors
Schnyder crystalline corneal dystrophy
Kostmann neutropenia
Oncogene MYC, lung carcinoma-derived
Deafness, autosomal dominant
Porphyria
Epiphyseal dysplasia, multiple, type 2
246 million base pairs
Homocystinuria
Bartter syndrome, type 3

Prostate cancer
Brain cancer
1
Neuroblastoma (neuroblastoma suppressor)
Rhabdomyosarcoma, alveolar
Neuroblastoma, aberrant in some
Exostoses, multiple-like
Opioid receptor
Hyperprolinemia, type II
Charcot-Marie-Tooth neuropathy
Muscular dystrophy, congenital
Erythrokeratodermia variabilis
Deafness, autosomal dominant and recessive
Glucose transport defect, blood-brain barrier
Hypercholesterolemia, familial
Neuropathy, paraneoplastic sensory
Melanoma-associated gene
Thyroid iodine peroxidase deficiency
Goiter, congenital
Hypothyroidism, congenital
Lipoproteinemia, hypobeta, abeta-, hyperbeta-, and apo-
ACTH deficiency
Obesity, adrenal insufficiency, and red hair
LCHAD deficiency
Trifunctional protein deficiency, type 1
HELLP syndrome, maternal, of pregnancy
Fatty liver, acute, of pregnancy
Deafness, autosomal recessive
Glaucoma, primary infantile
Spastic paraplegia
Gingival fibromatosis, hereditary
Holoprosencephaly
Ovarian dysgenesis
Tremor, familial essential
Muir-Torre syndrome 2
Oculodigitoesophagoduodenal syndrome
Anaplastic lymphoma kinase (Ki-1)
Pseudovaginal perineoscrotal hypospadias
Xanthinuria, type I
Colorectal cancer, hereditary, nonpolyposis, type 1
Ovarian cancer
Human T-cell leukemia virus enhancer factor

Precocious puberty, male
Pseudohermaphroditism, male, with Leydig cell hypoplasia
Hypogonadotropic hypogonadism
Micropenis
Leydig cell adenoma, with precocious puberty
Sitosterolemia
Cystinuria
Doyne honeycomb degeneration of retina
von Hippel-Lindau syndrome
Renal cell carcinoma
Fanconi anemia, complementation group D
Biotinidase deficiency
Xeroderma pigmentosum, complementation group C
Cardiomyopathy, dilated, autosomal dominant
Endplate acetylcholinesterase deficiency
Arrhythmogenic right ventricular dysplasia
Teratocarcinoma-derived growth factor
Hepatoblastoma
Pilomatricoma
Ovarian carcinoma, endometrioid type
Hypobetalipoproteinemia, familial
GM1-gangliosidosis
Mucopolysaccharidosis
BRCA1 associated protein (breast cancer)
Hemolytic anemia
Moyamoya disease
Lung cancer, small-cell

Colon cancer
3
Muscular dystrophy, limb-girdle, type IC
Obesity, severe
Diabetes mellitus, insulin-resistant
Marfan-like connective tissue disorder
Thyroid hormone resistance
Usher syndrome, type IIB
Pseudo-Zellweger syndrome
Deleted in lung and esophageal cancer

Metaphyseal chondrodysplasia, Murk Jansen type
Carnitine-acylcarnitine translocase (deficiency)
Epidermolysis bullosa
Colorectal cancer, hereditary nonpolyposis, type 2
Turcot syndrome with glioblastoma
Muir-Torre family cancer syndrome
Cherubism (familial benign giant-cell tumor of the jaw)
Dopamine receptor
Huntington disease
Night blindness, congenital stationary, type 3
Retinitis pigmentosa, autosomal recessive
Retinal degeneration, autosomal recessive
Wolfram syndrome
Craniosynostosis, Adelaide type
Phenylketonuria
Parkinson disease, familial
Pituitary tumor-transforming gene
Stargardt disease
Dentin dysplasia, Shields type II
Leukemia, acute myeloid
Periodontitis, juvenile
Muscular dystrophy, limb-girdle, type 2E
Melanoma growth-stimulating activity
Achondroplasia
Hypochondroplasia
Wolf-Hirschhorn syndrome
Hypodontia
Dopamine receptor
4
Thanatophoric dysplasia, types I and II

Crouzon syndrome with acanthosis nigricans
Muencke syndrome
Mucopolysaccharidosis
Ellis-van Creveld syndrome

Weyers acrodental dysostosis
Huntington-like neurodegenerative disorder
Retinitis pigmentosa, autosomal recessive
Psoriasis susceptibility
Analbuminemia
Amelogenesis imperfecta
Dopamine transporter
Attention-deficit hyperactivity disorder, susceptibility to
Cri-du-chat syndrome, mental retardation in
Chondrocalcinosis
Taste receptor
Alpha-methylacyl-CoA racemase deficiency
Differentially expressed in ovarian cancer
Ketoacidosis
Leukemia inhibitory factor receptor
Myopathy, distal, with vocal cord and pharyngeal weakness
Molybdenum cofactor deficiency, type B
m
Endometrial carcinoma
Klippel-Feil syndrome
Anemia, megaloblastic
S
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Intervertebral disc disease Muscle-eye-brain disease Carney complexes Dyslexia, specific Septooptic dysplasia Hyperglycinemia, nonketotic Hyper-IgE syndrome Piebaldism m O w m m m D m
Lymphoma, non-Hodgkin Medulloblastoma Endometrial carcinoma Muscular dystrophy Progressive external ophthalmoplegia, type 2 Pancreatic cancer Renal tubular acidosis Mast cell leukemia A m D
Breast cancer, invasive intraductal Basal cell carcinoma Zellweger syndrome Miyoshi myopathy Larsen syndrome, autosomal dominant Spinocerebellar ataxia Mucolipidosis Mastocytosis with associated hematologic disorder G m A m m
Colon adenocarcinoma Corneal dystrophy, gelatinous drop-like Adrenoleukodystrophy, neonatal Myopathy, distal, with anterior tibial onset HIV infection, susceptibility/resistance to Pituitary ACTH-secreting adenoma Lymphocytic leukemia, acute T-cell Germ cell tumors m w
Maple syrup urine disease, type II Leber congenital amaurosis Alstrom syndrome Orofacial cleft Ichthyosiform erythroderma, congenital Ventricular tachycardia, idiopathic Alcoholism, susceptibility to Dentinogenesis imperfecta D m D A m m m
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 m M m m M
Fluorouracil toxicity, sensitivity to B-cell leukemia/lymphoma Welander distal myopathy Vitamin K-dependent coagulation defect Brugada syndrome T-cell leukemia translocation altered gene Sclerotylosis Parkinson disease, type 1 D m H m m
Zellweger syndrome Lymphoma, MALT and follicular Kappa light chain deficiency Pancreatitis-associated protein Heart block, progressive and nonprogressive Wernicke-Korsakoff syndrome, susceptibility to Huriez syndrome Polycystic kidney disease, adult, type II N mm m m m
Stickler syndrome, type III Mesothelioma Pancreatic stone protein Pulmonary alveolar proteinosis, congenital Deafness, autosomal recessive Bardet-Biedl syndrome Rieger syndrome Hypogonadotropic hypogonadism M m G D m
Marshall syndrome Germ cell tumor Lissencephaly Glaucoma, open angle, B (adult-onset) Waardenburg syndrome Nonpapillary renal carcinoma Iridogoniodysgenesis syndrome Abetalipoproteinemia m m m m m m N m m m
Stargardt disease Sezary syndrome Renal tubular acidosis with deafness Diabetes mellitus, non-insulin-dependent Tietz syndrome Protein S deficiency Severe combined immunodeficiency Mannosidosis, beta D N m mm w m
Retinitis pigmentosa Colon cancer BRCA1-associated RING domain (breast cancer) Ectodermal dysplasia, autosomal dominant and recessive Glycogen storage disease Ventricular, skeletal, slow Afibrinogenemia C3b inactivator deficiency m GM A M m
Cone-rod dystrophy Neuroblastoma Achromatopsia Hypothyroidism, congenital Dementia, familial, nonspecific Cardiomopathy, hypertrophic Anterior segment mesenchymal dysgenesis Long QT syndrome with sinus bradycardia H m m m m m m m
Macular dystrophy, age-related Glycogen storage disease Rhabdomyosarcoma, down-regulated in Nephronophthisis Pituitary hormone deficiency, combined Myotonic dystrophy Tryptophan oxygenase Fibrodysplasia ossificans progressiva D m
Fundus flavimaculatus Osteopetrosis, autosomal dominant, type II Diazepam-binding inhibitor Colorectal cancer Thyrotropin-releasing hormone deficiency Coproporphyria Aspartylglucosaminuria Fibrinogenemia M m A M N
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 G A O D m
Exostoses, multiple Vesicoureteral reflux Purpura fulminans, neonatal Spastic cerebral palsy, symmetric, autosomal recessive Hypomagnesemia, primary Oroticaciduria Hepatocellular carcinoma Hair color, red N m m D m
Pheochromocytoma Choreoathetosis/spasticity, episodic (paroxysmal) Liver cancer oncogene Epilepsy Tremor, familial essential Neuropathy, hereditary motor and sensory, Okinawa type Progressive external ophthalmoplegia, type 3 Pseudohypoaldosteronism type I, autosomal dominant m m A m M m
Psoriasis susceptibility Hemochromatosis, type 2 Xeroderma pigmentosum, group B Ataxia, episodic Charcot-Marie-Tooth neuropathy Dopamine receptor Coagulation factor XI Glutaricaciduria, type IIC M O A m
Limb-girdle muscular dystrophy, autosomal dominant Leukemia, acute Trichothiodystrophy Deafness, autosomal dominant Malignant hyperthermia susceptibility Psoriasis susceptibility Facioscapulohumeral muscular dystrophy Hypercalciuria N m M m m
Pycnodysostosis Gaucher disease Nemaline myopathy, autosomal recessive Myasthenic syndrome, slow-channel congenital Hypocalciuric hypercalcemia, type I Moebius syndrome Eutropenia, neonatal alloimmune Beukes familial hip dysplasia m m m D M m
Vohwinkel syndrome with ichthyosis Medullary cystic kidney disease, autosomal dominant Convulsions, familial febrile Rhizomelic chondrodysplasia punctata, type 3 Neonatal hyperparathyroidism Alkaptonuria Fletcher factor Facioscapulohumeral muscular dystrophy region m m A w m m m M m
Erythrokeratoderma, progressive symmetric Renal cell carcinoma, papillary Progressive intrahepatic cholestasis Cardiomyopathy, dilated Hypocalcemia, autosomal dominant Glaucoma, primary open angle H m A m H m mm m
Anemia, hemolytic Insensitivity to pain, congenital, with anhidrosis Edstrom myopathy Duane retraction syndrome Atransferrinemia Hypertension, essential M m m m N M A A m H
Elliptocytosis Medullary thyroid carcinoma Mesomelic dysplasia, Kantaputra type Synpolydactyly, type II Propionicacidemia, type II or pccB Usher syndrome (Finland) w O O
Pyropoikilocytosis Hyperlipidemia, familial combined Cardiomyopathy, familial hypertrophic Colorectal cancer, hereditary nonpolyposis, type 3 Hailey-Hailey disease Nephronophthisis, adolescent m m m H m
Spherocytosis, recessive Hyperparathyroidism Bardet-Biedl syndrome Neurogenic differentiation Retinitis pigmentosa, autosomal dominant and recessive Ataxia telangiectasia m A m
Schizophrenia Lymphoma, progression of Ehlers-Danlos syndromes Arrhythmogenic right ventricular dysplasia Night blindness, congenital stationery, rhodopsin-related Short stature D m m
Lupus nephritis, susceptibility to Porphyria variegata Aneurysm, familial arterial Myasthenia gravis, neonatal transient Cataracts, juvenile-onset and congenital Myeloid leukemia factor, acute H m m w mm
Migraine, familial hemiplegic Hemorrhagic diathesis Diabetes mellitus, insulin-dependent Cataracts Common acute lymphocytic leukemia antigen Ectropic viral integration site (oncogene EVI1) H m M m m
Emery-Dreifuss muscular dystrophy Thromboembolism susceptibility Primary pulmonary hypertension (familial primary) Paroxysmal nonkinesiogenic dyskinesia Blepharophimosis, epicanthus inversus and ptosis type 1 3q21q26 syndrome m G m
Cardiomyopathy, dilated Systemic lupus erythematosus, susceptibility Cleft palate, isolated Choreoathetosis, familial paroxysmal Hemosiderosis, systemic Encephalopathy, familial, with neuroserpin inclusion bodies
Lipodystrophy, familial partial Fish-odor syndrome Wrinkly skin syndrome Cerebrotendinous xanthomatosis Sucrose intolerance Diabetes mellitus, noninsulin-dependent O D m
Dejerine-Sottas disease, myelin P-related Prostate cancer, hereditary Amyotrophic lateral sclerosis, juvenile recessive Acyl-Coenzyme A dehydrogenase Cerebral cavernous malformations Fanconi-Bickel syndrome M m m m m m A m
Hypomyelination, congenital Chronic granulomatous disease Lactic acidosis due to defect in iron-sulfur cluster of complex I Carbamoylphosphate synthetase I Myelodysplasia syndrome Lymphomas
11
Nemaline myopathy, autosomal dominant Macular degeneration, age-related Ichthyosis Waardenburg syndrome, types I and III Apnea, postanesthetic Eukaryotic translation initiation factor (squamous cell lung cancer) m m
Lupus erythematosus, systemic, susceptibility Epidermolysis bullosa Finnish lethal neonatal metabolic syndrome Rhabdomyosarcoma, alveolar Ovarian cancer Limb-mammary syndrome m m m
Fold Fold
Neutropenia, alloimmune neonatal Chitotriosidase deficiency T-cell leukemia or lymphoma Craniofacial-deafness-hand syndrome Megakaryocyte growth and development factor Tumor protein p63 m
Viral infections, recurrent Pseudohypoaldosteronism, type II Bjornstad syndrome (pili torti and deafness) Brachydactyly, type A1 Thrombocythemia, essential Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome m
Antithrombin III deficiency Hypokalemic periodic paralysis Myopathy, desmin-related, cardioskeletal Goodpasture antigen Peroxisomal bifunctional enzyme deficiency Optic atrophy m m m
Atherosclerosis, susceptibility to Malignant hyperthermia susceptibility Cardiomyopathy, dilated Serotonin receptor Thrombophilia due to HRG deficiency Lipoma
Glaucoma Glomerulopathy with fibronectin deposits Natural resistance-associated macrophage protein Bethlem myopathy Leukoencephalopathy with vanishing white matter Bernard-Soulier syndrome, type C melanoma-associated
12
Tumor potentiating region Metastasis suppressor Hyperoxaluria, primary, type 1 Programmed cell death Lipoma-preferred-partner gene fused with HMGIC
Nephrotic syndrome Alport syndrome, autosomal recessive
10
Measles, susceptibility to Leigh syndrome, French-Canadian type
Sjogren syndrome van der Woude syndrome (lip pit syndrome) Hematuria, familial benign Ultraviolet 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 Hypoparathyroidism-retardation-dysmorphism syndrome Oguchi disease Dopamine receptor Diabetes mellitus, insulin-dependent
Cardiomyopathy Ventricular tachycardia, stress-induced polymorphic Epidermolysis bullosa Autonomic nervous system dysfunction Sickle cell anemia
Factor H deficiency
Membroproliferative glomerulonephritis
Fumarase deficiency
Chediak-Higashi syndrome
Long QT syndrome
Jervell and Lange-Nielsen syndrome
Thalassemias, beta
Erythremias, beta 132 million base pairs
9
Hemolytic-uremic syndrome Muckle-Wells syndrome Thalassemia Heinz body anemias, beta
Nephropathy, chronic hypocomplementemic Zellweger syndrome Diabetes mellitus, rare form HPFH, deletion type Lupus erythematosus Dentatorubro-pallidoluysian atrophy
Epidermolysis bullosa Adrenoleukodystrophy, neonatal Hyperproinsulinemia, familial Bladder cancer Hypophosphatemic rickets, autosomal dominant Emphysema
8
Popliteala pterygium syndrome Endometrial bleeding-associated factor Refsum disease, adult Suppression of tumorigenicity, prostate Breast cancer Wilms tumor, type 2 Coagulation factor VIII (von Willebrand factor) Alzheimer disease, susceptibility to
Ectodermal dysplasia/skin fragility syndrome 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 Interleukin receptor, alpha chain, deficiency of Lung cancer Sjogren syndrome antigen Periodic fever, familial Leukemia, acute lymphoblastic
7
Kenny-Caffey syndrome Chondrodysplasia punctata, rhizomelic, type 2
Leukemia Arrhythmogenic right ventricular dysplasia Segawa syndrome, recessive Niemann-Pick disease, types A and B Keutel syndrome Hypertension, essential, susceptibility to
Diphenylhydantoin toxicity Thrombocytopenia Myasthenic antigen B Hypoparathyroidism, dominant and recessive Osteoporosis Periodic fever, familial (Hibernian fever) Leukemia factor, myeloid
Osaka thyroid oncogene Lambert-Eaton syndrome Tumor susceptibility gene Persistent hyperinsulinemic hypoglycemia of infancy Episodic ataxia/myokymia syndrome Spastic paraplegia, autosomal dominant
146 million base pairs Sex-reversal, autosomal

Hyperglycinemia, nonketotic
Ovarian cancer
Albinism, brown and rufous
Ewing Sarcoma
Obesity, susceptibility to
Multiple endocrine neoplasia
Megaloblastic anemia
Diabetes mellitus, insulin-dependent
Severe combined immunodeficiency disease, Athabascan
Breast cancer
Usher syndrome
Atrophia areata
Charcot-Marie-Tooth disease, type 4B
Leukemia, T-cell acute lymphoblastic
Pseudohypoaldosteronism, type I
Hemolytic anemia
Diabetes-associated peptide (amylin)
Taste receptors
Glycogen storage disease, type 0
Hypertension with brachydactyly

Suppression of tumorigenicity, pancreas Interferon, alpha, deficiency Medullary thyroid carcinoma Cockayne syndrome, type B Fanconi anemia, complementation group F Hepatitis B virus integration site Lactate dehydrogenase-B deficiency Alzheimer disease, familial
Epilepsy, progressive, with mental retardation Microcephaly, primary autosomal recessive Diaphyseal medullary stenosis Leukemia Hirschsprung disease Cerebrooculofacioskeletal syndrome Leukemia, myeloid and lymphycytic Hepatocellular carcinoma Colorectal cancer Retinoblastoma-binding protein
Keratolytic winter erythema Hyperlipoproteinemia Melanoma Cyclin-dependent kinase inhibitor Thyroid papillary carcinoma Opsonic defect Acatalasemia Lacticacidemia Fibrosis of extraocular muscles, autosomal dominant Ichthyosis bullosa of Siemens
Prostate cancer tumor suppressor, putative Chylomicronemia syndrome, familial Trichoepithelioma, multiple familial Venous malformations, multiple cutaneous and mucosal Deafness, autosomal recessive Chronic infections Aniridia 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 keratoderma, Bothnia type Leukemia: myeloid, lymphoid, or mixed-lineage
Turcot syndrome with glioblastoma Craniosynostosis, type 1 Alopecia universalis Farber lipogranulomatosis Cartilage-hair hypoplasia Galactosemia Moebius syndrome Cardiomyopathy, dilated, autosomal dominant Cataract, 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 Diabetes insipidus, 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 Keratitis Prostate cancer overexpressed gene Anti-Mullerian hormone receptor, 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 leukodystrophy Hypermethioninemia, persistent, autosomal dominant Severe combined immunodeficiency, B cell-negative Coagulation factor II (thrombin) Persistent Mullerian duct syndrome, type II Epidermolytic hyperkeratosis
Retinitis pigmentosa Myeloid leukemia Plasminogen activator deficiency Hypotrichosis, Marie Unna type Hyperoxaluria, primary, type II Friedreich ataxia Gaucher disease, variant form Hemophagocytic lymphohistiocytosis, familial Reticulosis, familial histiocytic Hypoprothrombinemia Activating transcription factor 1 Keratoderma, palmoplantar, nonepidermolytic
Growth hormone deficient dwarfism Cerebral cavernous malformations Spastic paraplegia, autosomal recessive Torsion dystonia, 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 Werner syndrome Deafness, autosomal recessive Bleeding diathesis Hermansky-Pudlak syndrome Urofacial syndrome (Ochoa syndrome) Wilms tumor, type 1 Complement component inhibitor Myopathy, congenital White sponge nevus
Hyperinsulinism, familial Amphiphysin (Stiff-Man syndrome) Monocytic leukemia Spherocytosis Choreoacanthocytosis Hemophagocytic lymphohistiocytosis, familial Breast cancer Hypoglobulinemia and absent B cells Denys-Drash syndrome Angioedema, hereditary Meesmann corneal dystrophy Pachyonychia congenita
Charcot-Marie-Tooth neuropathy, neuronal type D Greig cephalopolysyndactyly syndrome Retinitis pigmentosa Pfeiffer syndrome Prostate-specific gene Chondrosarcoma, extraskeletal myxoid Multiple advanced cancers Hyperinsulinism-hyperammonemia syndrome Frasier syndrome Smith-Lemli-Opitz syndrome, types I and II Epidermolysis bullosa simplex Fundus albipunctatus
Alpha-ketoglutarate dehydrogenase deficiency Pallister-Hall syndrome Pleomorphic adenoma Chondrocalcinosis, with early-onset osteoarthritis Bamforth-Lazarus syndrome Pseudohermaphroditism, male, with gynecomastia Cowden disease Spastic paraplegia Foramina parietalia permagna (Catlin marks) IgE responsiveness, atopic Cataract, polymorphic and lamellar Glioma
Myopathy Polydactyly ACTH deficiency Opiate receptor, kappa Tyrosine kinase-like orphan receptor Tangier disease Lhermitte-Duclos syndrome Dubin-Johnson syndrome Exostoses, multiple Bardet-Biedl syndrome Sarcoma amplified sequence Myxoid liposarcoma
T-cell tumor invasion and metastasis Glioblastoma amplified sequence Convulsions, familial febrile Salivary gland pleomorphic adenoma Brachydactyly, type B1 HDL deficiency, familial Bannayan-Zonana syndrome Warfarin sensitivity Suppression of tumorigenicity, prostate Kaposi sarcoma Enuresis, nocturnal Stickler syndrome, type I
Argininosuccinicaciduria Spinal muscular atrophy, distal Ataxia with isolated vitamin E deficiency Duane retraction syndrome Nephronophthisis (infantile) Fanconi anemia, type C Endometrial carcinoma Wolman disease Prostate cancer Diabetes mellitus, insulin-dependent Achondrogenesis-hypochondrogenesis, type II SED congenita
Hyperreflexia Autism, susceptibility to Achromatopsia Charcot-Marie-Tooth neuropathy, autosomal recessive Neuropathy, sensory and autonomic, type 1 Xeroderma pigmentosum Polyposis, juvenile intestinal Cholesteryl ester storage disease Spinocerebellar ataxia Meckel syndrome, type 2 Osteoarthrosis, precocious Kniest dysplasia
Clostridium perfringens enterotoxin receptor Limb-girdle muscular dystrophy, autosomal dominant CMO II deficiency Branchiootorenal syndromes Fructose intolerance Epithelioma, self-healing, squamous Prostate cancer Tumor necrosis factor receptor superfamily, member 6 Hyperlipidemia, combined Leigh syndrome Wagner syndrome, type II Glycogen storage disease
Supravalvar aortic stenosis Platelet glycoprotein IV deficiency Zellweger syndrome Branchiootic syndrome Basal cell carcinoma, sporadic Leukemia, T-cell acute lymphoblastic Progressive external ophthalmoplegia Autoimmune lymphoproliferative syndrome Osteoarthritis susceptibility, female-specific Alexander disease 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 nerve coloboma with renal disease High bone mass Somatotrophinoma Sanfilippo syndrome, type D Cornea 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 chromosome 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 leiomyoma Cardiomyopathy, hypertrophic
Malignant hyperthermia susceptibility Mucopolysaccharidosis Glaucoma, open angle Segmentation syndrome Amyotrophic lateral sclerosis, juvenile dominant Lead poisoning, susceptibility to Meningioma-expressed antigen Endometrial carcinoma Multiple myeloma Pyruvate carboxylase deficiency Myopia, 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 Citrullinemia Adrenal hyperplasia, congenital Gyrate atrophy of choroid and retina Mammary tumor and squamous cell carcinoma Usher syndrome, type 1B Darier disease Noonan syndrome
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 contracture syndrome Amyloidosis, Finnish type Anterior segment mesenchymal dysgenesis Glaucoma Multiple endocrine neoplasia Albinism, oculocutaneous, type IA Mevalonicaciduria Tyrosinemia, 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 diarrhea, congenital, Finnish type Nephroblastoma overexpressed gene Macular dystrophy, atypical vitelliform Tuberous sclerosis Leigh syndrome Malignant brain tumors Apert syndrome Prolactinoma, carcinoid syndrome Glomerulosclerosis 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 Alcohol 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 Schizencephaly Leukemia, acute promyelocytic Ataxia-telangiectasia Ulnar-mammary syndrome Tumor rejection antigen
Thrombophilia Hepatocellular carcinoma, childhood type Trichorhinophalangeal syndrome type I Burkitt lymphoma 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 stem cell antigen Hypothyroidism, hereditary congenital Joubert syndrome 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
Meleda disease Beare-Stevenson cutis gyrata syndrome Macular dystrophy, vitelliform type (Best disease) Breast cancer Oral cancer
Osteogenesis imperfecta Retinitis pigmentosa, autosomal dominant
Spinal muscular atrophy with respiratory distress Myopathy, desmin-related, cardioskeletal
Ehlers-Danlos syndrome, type VIIA2 Cystic fibrosis
Paraganglioma or familial glomus tumors ApoA-I and apoC-III deficiency
16
Osteoporosis, idiopathic Congenital bilateral absence of vas deferens
Folate receptor, adult Hypertriglyceridemia
Marfan syndrome, atypical Sweat chloride elevation without CF
T-cell immune regulator Hypoalphalipoproteinemia
Deafness, autosomal recessive Colorblindness, blue cone pigment
14
Osteopetrosis, recessive Corneal clouding, autosomal recessive
Pendred syndrome Myotonia
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
Hemolytic anemia
Suppression of tumorigenicity (breast)
Preeclampsia, susceptibility to
Coronary spasm, susceptibility to
Deafness, autosomal dominant and recessive
Phenylketonuria
Hypertriglyceridemia
Ectodermal dysplasia, type 4 (Margarita type)
Hypomagnesemia, renal
Leukemia, myeloid/lymphoid or mixed-lineage
Obesity Holoprosencephaly
Immunodeficiency Lung cancer, non small-cell
Taste receptors
Renal tubular acidosis, distal, autosomal recessive
Serotonin receptor
Growth rate controlling factor
Currarino syndrome
105 million base pairs Erythrocytosis, autosomal recessive benign
Glycogen storage disease
Hydrolethalus syndrome
Porphyria, acute, Chester type
Methemoglobinemias, alpha
Erythremias, alpha
Heinz body anemias, alpha
Thalassemia, alpha
Erythrocytosis
Heinz body anemia
Jacobsen syndrome Megaloblastic anemia syndrome Hemoglobin H disease
Trypsinogen deficiency Sacral agenesis Alpha-thalassemia/mental retardation
Chorea, hereditary benign Basal ganglia calcification (Fahr disease) Paragangliomas, familial nonchromaffin Friend leukemia virus integration
Pancreatitis, hereditary Triphalangeal thumb-polysyndactyly syndrome Axis inhibitor Hypochromic microcytic anemia
13
Meningioma-expressed antigen Multinodular goiter Herpes virus entry mediator Ewing sarcoma
Glaucoma-related pigment dispersion syndrome X-ray repair Myopathy, distal Retinitis pigmentosa, autosomal dominant Hepatocellular carcinoma GABA-transaminase deficiency
Epstein-Barr virus modification site Histiocytosis with joint contractures and deafness Cataract, congenital, with microphthalmia
Defender against cell death Leukemia/lymphoma, T-cell Rubenstein-Taybi syndrome
Serotonin receptor Opioid-binding protein/cell adhesion molecule Polycystic kidney disease, infantile severe
Temperature-sensitive apoptosis Oculopharyngeal muscular dystrophy, autosomal recessive Tuberous sclerosis
Lysinuric protein intolerance APEX nuclease (multifunctional DNA repair enzyme) Porphyria, acute intermittent Bartter syndrome, type 2 Ubiquitin-specific protease, herpes virus-associated
Polycystic kidney disease, adult type I
Ichthyosis, lamellar, autosomal recessive Cardiomyopathy, familial hypertrophic Leukemia, acute myelomonocytic Xeroderma pigmentosum, group F
Ichthyosiform erythroderma, congenital Oligodontia Pseudoxanthoma elasticum Microhydranencephaly
15
Spastic paraplegia Goiter, familial 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
Meniere disease Spherocytosis Retinitis pigmentosa Familial Mediterranean fever
Arrhythmogenic right ventricular dysplasia Anemia, neonatal hemolytic, fatal and near-fatal Atopy, susceptibility to Liddle syndrome
Cholesterol-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 Mitral valve prolapse, familial
Ectodermal dysplasia Pancreatic agenesis Dystonia, DOPA-responsive Diabetes mellitus, insulin-dependent Arthrocutaneouveal granulomatosis (Blau syndrome) Brody myopathy
Muscular dystrophy, limb-girdle, type 2C Maturity Onset Diabetes of the Young, type IV Leber congenital amaurosis, type III Krabbe disease Paroxysmal kinesigenic choreoathetosis Retinoblastoma-binding protein
Breast cancer, early onset Enuresis, nocturnal Tyrosinemia, type Ib Hypothyroidism, congenital Wilms tumor Inflammatory bowel disease (Crohn disease)
Pancreatic cancer Dementia, familial British Alzheimer disease Thyroid adenoma, hyperfunctioning Hypertension, essential, susceptibility to Prader-Willi/Angelman syndrome (paternally imprinted)
Machado-Joseph disease Graves disease CLL/lymphoma, B-cell Hypodontia, autosomal recessive Myxoid liposarcoma, fusion gene in
Disrupted in B-cell neoplasia Rieger syndrome, type 2 Eye color, brown
Leukemia, chronic lymphocytic, B-cell X-ray sensitivity Ovarian cancer Hyperthroidism, congenital Lymphoma, diffuse large cell Cocaine- and antidepressant-sensitive Cylindromatosis, familial
Human coronavirus sensitivity
MHC class II deficiency, group B Rhabdomyosarcoma, alveolar Microphthalmia, autosomal recessive Usher syndrome, autosomal recessive Necdin Orthostatic intolerance Spiegler-Brooke syndrome
Albinism, oculocutaneous, type II and ocular
Hyperornithinemia, hyperammonemia, homocitrullinemia Lung cancer, non small-cell Cerebrovascular disease, occlusive Emphysema-cirrhosis Prader-Willi syndrome Leukemia, acute myelogenous Townes-Brocks syndrome
Andermann syndrome
Serotonin receptor Spinocerebellar 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 Cataract, Marner type Gitelman syndrome
Fold Fold
Achromatopsia Hair color, brown Epilepsy, juvenile myoclonic
Osteosarcoma Microcoria, congenital Norum disease Bardet-Biedl syndrome
Bladder cancer Schizophrenia susceptibility Spastic paraplegia Spinocerebellar ataxia
Limb deformity Fish-eye disease Leukemia, acute myeloid, M4Eo subtype
Pinealoma with bilateral retinoblastoma Xeroderma pigmentosum, group G Microcephaly, primary autosomal recessive
Schizophrenia, neurophysiologic defect in Tyrosinemia, type II Ras-related gene associated with diabetes
Wilson disease Coagulation Factor VII deficiency Dyserythropoietic anemia, congenital, type I
Isovalericacidemia Breast cancer antiestrogen resistance Endometrial carcinoma
Postaxial polydactyly, type A2 Oguchi disease Muscular dystrophy, limb-girdle, type 2A
Hirschsprung disease Stargardt disease, autosomal dominant Spherocytosis, hereditary, Japanese type Fibrosis of extraocular muscles, congenital Ovarian carcinoma
Dyslexia
Propionicacidemia, types I or pccA Coagulation Factor X deficiency Bartter syndrome Fanconi anemia, complementation group A Breast cancer, lobular
Amyloidosis, hemodialysis-related
Holoprosencephaly Breast cancer, ductal Amytrophic lateral sclerosis, juvenile recessive Lymphedema with distichiasis Gastric cancer, familial
Ceroid-lipofuscinosis, neuronal, late infantile
Bile acid malabsorption, primary Dyserythropoietic anemia, congenital, type III Spastic paraplegia Benzene toxicity, susceptibility to
Gynecomastia, familial
Chronic granulomatous disease, autosomal Leukemia, postchemotherapy, susceptibility to
18
Griscelli syndrome Virilization, maternal and fetal
Deafness, autosomal recessive Giant axonal neuropathy Spinocerebellar ataxia
Colorectal cancer
Hepatic lipase deficiency Urolithiasis, 2,8-dihydroxyadenine Stomatocytosis, dehydrated hereditary
Carbohydrate-deficient glycoprotein syndrome, type Ib
Marfan syndrome Mucopolysaccharidosis Pseudohyperkalemia, familial
Bardet-Biedl syndrome
UV-induced skin damage, vulnerability to
19
Shprintzen-Goldberg syndrome Tay-Sachs disease
Ectopia lentis, familial GM2-gangliosidosis
Leukemia, acute promyelocytic, PML/RARA type Tyrosinemia, type I
76 million base pairs Cardiomyopathy, familial hypertrophic Mental retardation, severe
17
Enhanced S-cone syndrome Hypercholesterolemia, familial, autosomal recessive
Glutaricaciduria, type IIA Retinitis pigmentosa, autosomal recessive
M m m Epilepsy, nocturnal frontal lobe, type 2 Otosclerosis
O
H G
N m D
PAPA syndrome
Diabetes mellitus, insulin-dependent
Bloom syndrome
A Closer Look
H m Coxsackie virus sensitivity Ataxia, cerebellar, Cayman type
81 million base pairs m m Cyclic hematopoiesis Convulsions, familial febrile
X
Am m m Fucosyltransferase-6 deficiency Guanidinoacetate methyltransferase deficiency
Am m Hypocalciuric hypercalcemia, type II Muscular dystrophy
Canavan disease Bernard-Soulier syndrome m m O m Leukemia, myeloid/lymphoid or mixed-lineage Hirschsprung disease
Ovarian cancer Breast cancer-related regulator of TP53 m Wegener granulomatosis autoantigen Peutz-Jeghers syndrome
Miller-Dieker syndrome Hypermethylated in cancer D m m Bleeding disorder Leukemia, acute lymphoblastic
Retinitis pigmentosa Lissencephaly Persistent Mullerian duct syndrome, type I Atherosclerosis, susceptibility to
m m Chromosomes are t ght y co ed m croscop c s ng e gene Many common d seases such as d abetes
Tumor protein p53 Subcortical laminar heterotopia Mucolipidosis Malaria, cerebral, susceptibility to
Colorectal cancer Leber congenital amaurosis, type I m m m O m Glutaricaciduria, type I Sicca syndrome
Li-Fraumeni syndrome
Cystinosis, nephropathic
Medulloblastoma
Cataract, anterior polar m m m
O m m
structures made up ma n y of DNA wh ch hypertens on deafness and cancers have more comp ex Leprechaunism
Rabson-Mendenhall syndrome
Glioblastoma
Thyroid carcinoma, nonmedullary
m M m m Short stature, idiopathic familial Hodgkin disease susceptibility, pseudoautosomal Diabetes mellitus, insulin-resistant Low density lipoprotein receptor
Diabetes mellitus, noninsulin-dependent
Cone dystrophy
Myasthenia gravis, familial infantile
Bruck syndrome m m cons sts of four d fferent bu d ng b ocks causes that may be a comb nat on of sequence var at ons Leri-Weill dyschondrosteosis Ichthyosis Ichthyosis Hypercholesterolemia, familial
Langer mesomelic dysplasia Microphthalmia, dermal aplasia, and sclerocornea Leukemia, T-cell acute lymphoblastoid Arteriopathy, cerebral
Myasthenic syndrome Sjogren-Larsson syndrome
Deafness, autosomal recessive Charcot-Marie-Tooth neuropathy ca ed bases A T C and G The four bases are repeated n severa genes on d fferent chromosomes n add t on to Leukemia, acute myeloid, M2 type
Chondrodysplasia punctata
Episodic muscle weakness
Mental retardation
Liposarcoma Pseudoachondroplasia
Smith-Magenis syndrome Dejerine-Sottas disease Mycobacterial and salmonella infections, susceptibility to Epiphyseal dysplasia, multiple
Kallmann syndrome Ocular albinism and sensorineural deafness
VLCAD deficiency
Maturity Onset Diabetes of the Young, type V
Van der Woude syndrome modifier
Choroidal dystrophy, central areolar
m ons of t mes to form each chromosome The ent re env ronmenta factors Ocular albinism, Nettleship-Falls type Amelogenesis imperfecta
Eye color, green/blue
Hemiplegic migraine, familial
Severe combined immunodeficiency disease
Hair color, brown
Oral-facial-digital syndrome Charcot-Marie-Tooth disease, recessive Episodic ataxia, type 2 Leigh syndrome
Hypertension, essential, susceptibility to Huntingtin-associated protein
T-cell immunodeficiency, alopecia, and nail dystrophy Psoriasis susceptibility human genome cons sts of 23 pa rs of chromosomes w th Nance-Horan cataract-dental syndrome Keratosis follicularis spinulosa decalvans Ataxia, spinocerebellar and cerebellar MHC class II deficiency
21
Heterocellular hereditary persistence of fetal hemoglobin Hypophosphatemia, hereditary Leukemia, acute myeloid Exostoses, multiple, type 3
Chondrosarcoma, extraskeletal myxoid Epidermolysis bullosa
Neurotransmitter transporter, serotonin (anxiety-related) Alzheimer disease, susceptibility to one chromosome n every pa r com ng from each parent n Apr 2003 sc ent sts n the nternat ona Pyruvate dehydrogenase deficiency
Glycogen storage disease
Partington syndrome
Retinoschisis
Mannosidosis, alpha, types I and II Benign familial infantile convulsions
Neurofibromatosis, type 1 Van Buchem disease Alzheimer disease, late onset Leukemia/lymphoma, B-cell
Coffin-Lowry syndrome Gonadal dysgenesis, XY female type
Watson syndrome
Leukemia, juvenile myelomonocytic
Malignant hyperthermia susceptibility
Leukemia, acute promyelocytic
W th few except ons e g red b ood ce s each of the Human Genome Pro ect (HGP) comp eted Mental retardation Mental retardation, non-dysmorphic
Glomerulosclerosis, focal segmental
Spondylocostal dysostosis, autosomal recessive
Prostate-specific antigen
Spondyloepiphyseal dysplasia tarda Agammaglobulinemia, type 2 Hypercalcemia, familial benign, Oklahoma type, type III Spastic paraplegia , autosomal dominant
HIV-1 disease, delayed progression of Epidermolytic palmoplantar keratoderma
tr ons of ce s n the human body conta ns a comp ete set a h gh y accurate 3-b on base pa r human
Paroxysmal nocturnal hemoglobinuria Craniofrontonasal dysplasia Orofacial cleft Cystinuria, types II and III
Meesmann corneal dystrophy Pachyonychia congenita, Jadassohn-Lewandowsky type
Infantile spasm syndrome Opitz G syndrome, type I Charcot-Leyden crystal protein Nephrosis, congenital, Finnish type
Muscular dystrophy, limb-girdle Keratoderma, nonepidermolytic palmoplantar
Epidermolysis bullosa simplex, recessive Sclerosteosis of chromosomes—the genome genome reference DNA sequence The comp et on of the Aicardi syndrome
Deafness, sensorineural
Pigment disorder, reticulate
Melanoma
Hemolytic anemia
Hydrops fetalis
Generalized epilepsy with febrile seizures plus
Ovarian carcinoma
Pachyonychia congenita, Jackson-Lawler type Muscular dystrophy, Duchenne-like, type 2 Coxsackie and adenovirus receptor Myeloproliferative syndrome, transient Simpson-Golabi-Behmel syndrome, type 2 Duchenne muscular dystrophy
Steatocystoma multiplex
Wilms tumor, type 4
Adhalinopathy, primary
Breast cancer, early onset
Amyloidosis, cerebroarterial, Dutch type Leukemia, transient, of Down syndrome HGP co nc ded w th the 50th ann versary of the pub cat on Adrenal hypoplasia, congenital Becker muscular dystrophy
Malignant hyperthermia susceptibility
Central core disease
Microcephaly, autosomal recessive
Hyperlipoproteinemia, types Ib and III
Alzheimer disease, APP-related Enterokinase deficiency Dosage-sensitive sex reversal Cardiomyopathy, dilated
Glycogen storage disease (von Gierke disease) Ovarian cancer Osteodysplasia, polycystic lipomembranous Myocardial infarction susceptibility
Parkinsonism-dementia Leukemia, myeloid/lymphoid or mixed-lineage
Schizophrenia, chronic
Usher syndrome, autosomal recessive
Multiple carboxylase deficiency
T-cell lymphoma invasion and metastasis
The co or-banded f gures n th s poster are s mp f ed of the structure of the DNA mo ecu e by James Watson and Deafness, congenital sensorineural
Retinitis pigmentosa
Chronic granulomatous disease Maple syrup urine disease, type Ia Cytochrome P450 (coumarin resistance)
Epidermolytic hyperkeratosis Breast cancer, sporadic Snyder-Robinson mental retardation Camurati-Engelmann disease Nicotine addiction, protection from
Amytrophic lateral sclerosis Mycobacterial infection, atypical
Patella aplasia or hypoplasia Gliosis, familial progressive subcortical Oligomycin sensitivity Down syndrome (critical region) representat ons deograms of chromosomes wh ch can be Franc s Cr ck Th s ach evement earned them the Nobe Wilson-Turner syndrome
Cone dystrophy
Norrie disease
Exudative vitreoretinopathy
Myotonic dystrophy
Heart block, progressive familial, type I
X-ray repair
Excision repair
Osteogenesis imperfecta Pseudohypoaldosteronism type II Jervell and Lange-Nielsen syndrome Autoimmune polyglandular disease, type I Aland island eye disease (ocular albinism) Coats disease
Ehlers-Danlos syndrome, types I and VIIA
Osteoporosis, idiopathic
Spherocytosis, hereditary
Hemolytic anemia
Long QT syndrome Bethlem myopathy d st ngu shed by observ ng the r features through a ght Pr ze and spawned the new f e d of mo ecu ar b o ogy that Optic atrophy Renpenning syndrome
Optic atrophy
3-methylglutaconicaciduria, type III
Xeroderma pigmentosum, group D
Trichothiodystrophy
Down syndrome cell adhesion molecule Epilepsy, progressive myoclonic Night blindness, congenital stationary, type 1 Retinitis pigmentosa, recessive
Ovarian carcinoma antigen Renal tubular acidosis, distal Cystic fibrosis modifier DNA ligase I deficiency
Neuroblastoma T-cell leukemia virus (I and II) receptor
Homocystinuria
Cataract, congenital, autosomal dominant
Holoprosencephaly, alobar
Knobloch syndrome
m croscope Such features nc ude ength pos t on of a ed to the ncept on of the HGP n 1990 DNA sequences Erythroid-potentiating activity
Arthrogryposis multiplex congenita
Mental retardation, nonspecific and syndromic
Dyserythropoietic anemia with thrombocytopenia
Meconium ileus in cystic fibrosis, susceptibility to Polio virus receptor
Glanzmann thrombasthenia, type A Dementia, frontotemporal, with Parkinsonism Cone dystrophy Herpes virus entry mediator B
Deafness, autosomal recessive Hemolytic anemia
Thrombocytopenia, neonatal alloimmune
CLL/lymphoma, B-cell
Trichodontoosseous syndrome Myxovirus (influenza) resistance Breast cancer constr cted reg on centromere and the part cu ar are be ng obta ned for the genomes of many other Night blindness, congenital stationary, type 2
Brunner syndrome
Chondrodysplasia punctata, dominant
Autoimmunity-immunodeficiency syndrome
Leber congenital amaurosis
Retinitis pigmentosa, late-onset dominant
Glutaricaciduria, type IIB
Colorectal cancer
Glanzmann thrombasthenia, type B Leukemia, acute myeloid Platelet disorder, with myeloid malignancy Wiskott-Aldrich syndrome Renal cell carcinoma, papillary Diabetes mellitus, noninsulin-dependent Leukemia, T-cell acute lymphoblastic
Pituitary tumor, invasive
Symphalangism, proximal
Synostoses syndrome, multiple patterns of ght and dark bands that resu t from treatment organ sms as we and are cr t ca for comparat ve stud es Thrombocytopenia Faciogenital dysplasia (Aarskog-Scott syndrome) Hyperferritinemia-cataract syndrome Shaw-related subfamily genes
Dent disease Chorioathetosis with mental retardation Hypogonadism, hypergonadotropic Melanoma inhibitory activity
Myocardial infarction, susceptibility to Mulibrey nanism
Alzheimer disease, susceptibility to Growth hormone deficiency w th sta ns ead ng to a greater understand ng of human b o ogy and Nephrolithiasis, type I
Hypophosphatemia, type III
Sarcoma, synovial
Prieto syndrome
Retinitis pigmentosa, autosomal dominant Cardiomyopathy, familial hypertrophic
Myotonia congenita, atypical Myeloperoxidase deficiency Ectrodactyly, ectodermal dysplasia, cleft lip/palate
Proteinuria
Cramps, familial Cataracts that of a v ng organ sms Spinal muscular atrophy, lethal infantile
22 Y
Anemia, sideroblastic/hypochromic Migraine, familial typical
Fetal Alzheimer antigen Tylosis with esophageal cancer
Cerebellar ataxia Androgen insensitivity
Lung cancer, small-cell
Campomelic dysplasia with autosomal sex reversal
Adrenoleukodystrophy, pseudoneonatal
Deafness, autosomal dominant Genes are chromosome p eces whose base Renal cell carcinoma, papillary Spinal and bulbar muscular atrophy
Diabetes mellitus, insulin-dependent Prostate cancer
Apoptosis inhibitor Leukemia, acute myeloid, therapy-related
Diabetes mellitus, type II Myasthenic syndrome, slow-channel congenital sequence e g ATTCGGA determ nes how A New Era of Custom zed Med c ne Sutherland-Haan syndrome
Cognitive function, social
Perineal hypospadias
Breast cancer, male, with Reifenstein syndrome
Radical fringe Sanfilippo syndrome, types A and B
20
Mental retardation, nonspecific Ectodermal dysplasia, anhidrotic
when and where the body makes each of the Know ng the DNA sequence s mportant Menkes disease
Occipital horn syndrome
Alpha-thalassemia/mental retardation
Juberg-Marsidi syndrome 50 million base pairs
Cat eye syndrome DiGeorge syndrome
many thousands of d fferent prote ns requ red for fe because t affects responses to part cu ar Cutis laxa, neonatal Sutherland-Haan syndrome
FG syndrome Smith-Fineman-Myers syndrome Short stature homeo box, Y-linked
Thrombophilia Velocardiofacial syndrome
Rhabdoid predisposition syndrome, familial Schindler disease Humans have an est mated 25 000 genes w th an average med c nes res stance to nfect ons and tox ns and t may Immunodeficiency, moderate and severe
Miles-Carpenter syndrome
Hemolytic anemia
Myoglobinuria/hemolysis
Short stature
Leri-weill dyschondrosteosis
63 million base pairs Schizophrenia susceptibility locus
Bernard-Soulier syndrome, type B
Giant platelet disorder, isolated
Kanzaki disease
NAGA deficiency, mild
Epilepsy, partial
ength of about 3000 bases Genes make up ess than 2% even nf uence behav or Sequence var at ons a so can
Charcot-Marie-Tooth neuropathy, dominant
Mental retardation
X-inactivation center
Wieacker-Wolff syndrome
Torsion dystonia-parkinsonism, Filipino type
Leukemia, myeloid/lymphoid or mixed-lineage
Langer mesomelic dysplasia
Interleukin-3 receptor, Y chromosomal
Sex-determining region Y (testis-determining)
Creutzfeldt-Jakob disease
Gerstmann-Straussler disease
Diabetes insipidus, neurohypophyseal
McKusick-Kaufman syndrome
Hyperprolinemia, type I
Cataract, cerulean, type 2
Glutathioninuria
Opitz G syndrome, type II
of human DNA the rema n ng DNA has mportant but st cause or contr bute to such d sorders as those named on Premature ovarian failure Anemia, sideroblastic, with ataxia Gonadal dysgenesis, XY type
Arts syndrome Allan-Herndon syndrome Protocadherin 11, Y-linked
Leukemia, chronic myeloid Ubiquitin fusion degradation
Insomnia, fatal familial
Pantothenate kinase associated neurodegeneration
Cerebral amyloid angiopathy
Thrombophilia Ewing sarcoma Transcobalamin deficiency unknown funct ons that may nc ude regu at ng genes and th s poster Cleft palate and/or ankyloglossia
Megalocornea
Deafness
Choroideremia
Azoospermia factors
Male infertility due to spermatogenic failure
Alagille syndrome Myocardial infarction, susceptibility to Neuroepithelioma Heme oxygenase deficiency Epilepsy (Juberg-Hellman syndrome) Agammaglobulinemia Growth control, Y-chromosome influenced
Corneal dystrophy Huntington-like neurodegenerative disorder Li-Fraumeni syndrome Manic Fringe ma nta n ng the chromosome structure Pelizaeus-Merzbacher disease Fabry 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
Gigantism
Acromesomelic dysplasia, Hunter-Thompson type
Brachydactyly, type C
Amyotrophic lateral sclerosis
Pulmonary alveolar proteinosis
Sorsby fundus dystrophy
Neurofibromatosis, type 2
These new data and powerfu DNA ana ys s too s w usher Alport syndrome
Cowchock syndrome
Jensen syndrome
Lissencephaly
Retinoblastoma Chondrodysplasia, Grebe type Meningioma, SIS-related Meningioma, NF2-related, sporadic
Rous sarcoma Hemolytic anemia Dermatofibrosarcoma protuberans Schwannoma, sporadic Researchers hunt for d sease-assoc ated genes by ook ng n a new era of med c ne that cou d a ow doctors to detect Hypertrichosis, congenital generalized
Ptosis, hereditary congenital
Bazex syndrome
Mental retardation with growth hormone deficiency
Fold Colon cancer
Galactosialidosis
Myeloid tumor suppressor
Breast cancer
Giant-cell fibroblastoma
Spinocerebellar ataxia
Neurolemmomatosis
Malignant mesothelioma, sporadic for base changes found on y n the DNA of affected d sease at ear er stages make more accurate d agnoses
Apoptosis inhibitor
Panhypopituitarism
Mental retardation, South African type
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 hypopigmentation syndrome Colorectal cancer
nd v dua s Numerous d sorders and tra ts mapped to and custom ze drugs and other med ca treatments to Simpson-Golabi-Behmel syndrome, type 1 Pettigrew syndrome
Legend
Obesity/hyperinsulinism Graves disease, susceptibility to Debrisoquine sensitivity Cardioencephalomyopathy, fatal infantile Split hand/foot malformation, type 2 Gustavson mental retardation syndrome
Pseudohypoparathyroidism, type Ia Epilepsy, nocturnal frontal lobe and benign neonatal, type 1 Polycystic kidney disease Adenylosuccinase deficiency Hypoparathyroidism
McCune-Albright polyostotic fibrous dysplasia Epiphyseal dysplasia, multiple Leukodystrophy, metachromatic Autism, succinylpurinemic part cu ar chromosomes are d sp ayed on th s poster f t an nd v dua s own DNA sequence The eventua Mental retardation, Shashi type
Immunodeficiency, with hyper-IgM
Somatotrophinoma Electro-encephalographic variant pattern Myoneurogastrointestinal encephalomyopathy Glucose/galactose malabsorption Lesch-Nyhan syndrome Wood neuroimmunologic syndrome
Pituitary ACTH secreting adenoma Pseudohypoparathyroidism, type IB Leukoencephalopathy Benzodiazepine receptor, peripheral type Some d sorders such as cyst c f bros s chr 7 and s ck e ce understand ng of gene funct ons w ead to more HPRT-related gout Heterotaxy, visceral Reg ons e ec ng he un que pa e ns o gh and da k bands seen on
Methemoglobinemia, types I and II
Shah-Waardenburg syndrome Lowe syndrome Albinism-deafness syndrome human chomosomes s a ned o a ow v ew ng h ough a gh m c oscope
anem a chr 11 are caused by base sequence changes n a focused and effect ve treatments w th fewer s de effects Borjeson-Forssman-Lehmann syndrome
Testicular germ cell tumor
Cone dystrophy, progressive
Prostate cancer susceptibility
the
Hemophilia B
Warfarin sensitivity
Fragile X mental retardation
Epidermolysis bullosa, macular type
The cen ome e o cons c ed po on o each ch omosome
re
lo ome
Osseous dysplasia (male lethal), digital Diabetes insipidus, nephrogenic
Adrenoleukodystrophy Cancer/testis antigen
xp
E Gen ine!
Adrenomyeloneuropathy Dyskeratosis Ch omosoma eg ons ha va y n s a n ng n ens y and some mes a e
ca ed he e och oma n mean ng “d e en co o ”
Gene Gateway
Colorblindness, blue monochromatic Hemophilia A
n Onl Cardiac valvular dysplasia
ma
Hunter syndrome
For More Information

Emery-Dreifuss muscular dystrophy Mucopolysaccharidosis
Hu Heterotopia, periventricular
Favism
Intestinal pseudoobstruction, neuronal
Melanoma antigens
Va ab e eg ons ca ed s a ks ha connec a ve y sma ch omosome
www.ornl.gov/hgmis/posters/chromosome Hemolytic anemia Mental retardation-skeletal dysplasia a m a “sa e e” o he ch omosome
Colorblindness, green cone pigment Myotubular myopathy
Incontinentia pigmenti, type II Otopalatodigital syndrome, type I
Step-by-step instructions for using the Web to learn about: Hydrocephalus Colorblindness, red cone pigment Informat on Sources
• Human Genome Pro ect nformat on Comprehens ve • Careers n Genet cs and the B osc ences Resources MASA syndrome
Spastic paraplegia
Goeminne TKCR syndrome
Waisman parkinsonism-mental retardation Genes assoc a ed w h he d so de s and o he a s s ed on h s pos e we e
HGP nformat on and a ook at the “new b o ogy” of for students and teachers Rett syndrome
Mature T-cell proliferation
Barth syndrome
Cardiomyopathy, dilated se ec ed om On ne Mende an nhe ance n Man OM M wh ch des gna ed
the 21st century www orn gov hgm s educat on careers shtm Myopia (Bornholm eye disease)
Mental retardation with psychosis
Noncompaction of left ventricular myocardium
Von Hippel-Lindau binding protein
he s a us o each o hese as con med o p ov s ona as o u y 2000 L s ng o
www orn gov hgm s home shtm Endocardial fibroelastosis genes on Y ch omosome upda ed Novembe 2002 The numbe o base pa s
epo ed o each ch omosome s based on n shed human genome sequence
• DOE Jo nt Genome nst tute Fac ty for ntegrated
Genetic Disorders • Genom cs and ts mpact on Sc ence and Soc ety h gh-throughput sequenc ng and computat ona ana ys s
da a om he Na ona Cen e o B o echno ogy n o ma on Bu d 34 Ve s on 2
accessed Feb ua y 4 2004 www ncb n m n h gov genome gu de human
• Causes nher tance symptoms d agnos s A Pr mer http g doe gov
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Genes and Proteins
• Nature Human Genome Co ect on Deta ed ana yses
Prepared by Judy Wyr ck and Den se Casey
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• Gene name symbo s ze prote n product of a the chromosomes Oak R dge Nat ona Laboratory
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Rev sed Novembe 2006

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Cromosomes en Català

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Cromosomes en Català

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Human Genome Landmarks

Cutaneous malignant melanoma/dysplastic nevus

Bartter syndrome, type 3

Human T-cell leukemia virus enhancer factor

Lung cancer, small-cell

Deleted in lung and esophageal cancer

Thanatophoric dysplasia, types I and II

Ellis-van Creveld syndrome

146 million base pairs Sex-reversal, autosomal

158 million base pairs

113 million base pairs

100 million base pairs

81 million base pairs m m Cyclic hematopoiesis Convulsions, familial febrile

n Onl Cardiac valvular dysplasia

For More Information

• Gene and prote n sequence data

Rev sed Novembe 2006

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