dbGAP Gene-Trait Associations Dataset

Description gene-trait associations curated from genetic association studies
Measurement genetic association by data aggregation from genome-wide association and other genetic association studies
Association gene-trait associations curated from genetic association studies
Category disease or phenotype associations
Resource Database of Genotypes and Phenotypes
Citation(s)
Last Updated 2015 Apr 06
Stats
  1. 5668 genes
  2. 510 traits
  3. 12769 gene-trait associations

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trait Gene Sets

510 sets of genes associated with traits in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.

Gene Set Description
1-Alkyl-2-acetylglycerophosphocholine Esterase disease cluster belonging to disease group cardiovascular
Abdominal Fat disease cluster belonging to disease group metabolic
Acenocoumarol disease cluster belonging to disease group pharmacogenomic
Acetaminophen disease cluster belonging to disease group pharmacogenomic
Acquired Immunodeficiency Syndrome A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per µL of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS.
Adiponectin disease cluster belonging to disease group metabolic
Adiposity disease cluster belonging to disease group metabolic
Aging
Alanine Transaminase disease cluster belonging to disease group metabolic
Albumins disease cluster belonging to disease group metabolic
Albuminuria Increased concentration of albumin in the urine.
Alcohol Drinking Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
Alcoholism
Alkaline Phosphatase
Allopurinol trait belonging to MESH category Chemicals and Drugs Category
Alopecia Areata A hypersensitivity reaction type II disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots.
Alzheimer Disease A tauopathy that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.
Aminopeptidases disease cluster belonging to disease group neurological
Amygdala disease cluster belonging to disease group psych
Amyloid beta-Peptides disease cluster belonging to disease group neurological
Amyotrophic Lateral Sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Anemia A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells.
Anemia, Sickle Cell
Angiography disease cluster belonging to disease group cardiovascular
Angiotensin-Converting Enzyme Inhibitors disease cluster belonging to disease group other
Ankle Brachial Index Comparison of the BLOOD PRESSURE between the BRACHIAL ARTERY and the POSTERIOR TIBIAL ARTERY. It is a predictor of PERIPHERAL ARTERIAL DISEASE.|An alternative to the ankle-brachial index.
Anorexia Nervosa An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image.
Anthropometry Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
Anticoagulants disease cluster belonging to disease group hematological
Anticonvulsants disease cluster belonging to disease group pharmacogenomic
Antidepressive Agents disease cluster belonging to disease group pharmacogenomic
Antipsychotic Agents disease cluster belonging to disease group pharmacogenomic
Aorta disease cluster belonging to disease group cardiovascular
Aorta, Abdominal disease cluster belonging to disease group cardiovascular
Aortic Aneurysm, Abdominal
Aortic Aneurysm, Thoracic
Apolipoprotein A-I
Apolipoproteins B disease cluster belonging to disease group metabolic
Apolipoproteins C disease cluster belonging to disease group metabolic
Apolipoproteins E disease cluster belonging to disease group metabolic
Aromatase Inhibitors disease cluster belonging to disease group metabolic
Arrhythmias, Cardiac
Arteries disease cluster belonging to disease group cardiovascular
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthritis, Rheumatoid
Aspartate Aminotransferases disease cluster belonging to disease group metabolic
Asperger Syndrome An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development.
Asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, exercise, stress, reflux disease, medications, foods and emotional anxiety.
Astigmatism A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision.
Atherosclerosis
Atrial Fibrillation A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain.
Atrial Function, Left The hemodynamic and electrophysiological action of the LEFT ATRIUM.
Atrial Natriuretic Factor disease cluster belonging to disease group cardiovascular
Attention Deficit and Disruptive Behavior Disorders
Attention Deficit Disorder with Hyperactivity
Audiometry, Pure-Tone disease cluster belonging to disease group other
Autistic Disorder An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years.
Autoimmune Diseases
Azoospermia A male infertility disease characterized by the absence of any measurable level of sperm in semen.
Basophils disease cluster belonging to disease group immune
Behavior, Addictive The observable, measurable, and often pathological activity of an organism that portrays its inability to overcome a habit resulting in an insatiable craving for a substance or for performing certain acts. The addictive behavior includes the emotional and physical overdependence on the object of habit in increasing amount or frequency.
Behcet Syndrome A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.
Benzodiazepines disease cluster belonging to disease group pharmacogenomic
Bilirubin disease cluster belonging to disease group metabolic
Bipolar Disorder A mood disorder that involves alternating periods of mania and depression.
Birth Weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Blood Cells disease cluster belonging to disease group hematological
Blood Coagulation Factor Inhibitors disease cluster belonging to disease group hematological
Blood Coagulation Factors disease cluster belonging to disease group hematological
Blood Flow Velocity disease cluster belonging to disease group cardiovascular
Blood Glucose disease cluster belonging to disease group metabolic
Blood Pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Blood Pressure Determination disease cluster belonging to disease group cardiovascular
Blood Proteins disease cluster belonging to disease group hematological
Blood Sedimentation Measurement of rate of settling of erythrocytes in anticoagulated blood.
Blood Urea Nitrogen disease cluster belonging to disease group metabolic
Blood Vessels disease cluster belonging to disease group cardiovascular
Blood Viscosity The internal resistance of the BLOOD to shear forces. The in vitro measure of whole blood viscosity is of limited clinical utility because it bears little relationship to the actual viscosity within the circulation, but an increase in the viscosity of circulating blood can contribute to morbidity in patients suffering from disorders such as SICKLE CELL ANEMIA andPOLYCYTHEMIA.
Body Composition
Body Fat Distribution Deposits of ADIPOSE TISSUE throughout the body. The pattern of fat deposits in the body regions is an indicator of health status. Excess ABDOMINAL FAT increases health risks more than excess fat around the hips or thighs, therefore, WAIST-HIP RATIO is often used to determine health risks.
Body Height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
Body Mass Index An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Body Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Body Weight Changes disease cluster belonging to disease group metabolic
Body Weights and Measures Measurements of the height, weight, length, area, etc., of the human and animal body or its parts.
Bone Density The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.
Brachial Artery disease cluster belonging to disease group cardiovascular
Brain disease cluster belonging to disease group neurological
Brain Mapping disease cluster belonging to disease group neurological
Brain Waves Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain.
Breast Neoplasms
Butyrylcholinesterase
C-Reactive Protein disease cluster belonging to disease group immune
Caffeine disease cluster belonging to disease group chemdependency
Calcium disease cluster belonging to disease group metabolic
Calcium-Binding Proteins disease cluster belonging to disease group metabolic
Carbamazepine disease cluster belonging to disease group unknown
carbohydrate-deficient transferrin [Supplementary Concept] trait belonging to MESH category other
Carcinoid Tumor A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin.
Carcinoma, Basal Cell
Carcinoma, Hepatocellular
Carcinoma, Non-Small-Cell Lung
Carcinoma, Renal Cell
Cardiomegaly Increased size of the heart.
Cardiomyopathy, Dilated
Cardiovascular Diseases
Carotid Arteries A key artery located in the front of the neck that carries blood from the heart to the brain. Cholesterol plaques on the inner wall of the carotid artery can lead to stroke.|Artery originating at the junction of the first two aortic arches and supplying the anterior brain. Kimmel et al, 1995.|The two principal arteries supplying the structures of the head and neck. They ascend in the neck, one on each side, and at the level of the upper border of the thyroid cartilage, each divides into two branches, the external (CAROTID ARTERY, EXTERNAL) and internal (CAROTID ARTERY, INTERNAL) carotid arteries.|Either of the two principal arteries on both sides of the neck that supply blood to the head and neck; each divides into two branches, the internal carotid artery and the external carotid artery.|Artery originating at the junction of the first two aortic arches and supplying the anterior brain.
Carotid Artery Diseases
Carotid Artery, Internal disease cluster belonging to disease group cardiovascular
Carotid Stenosis
Caudate Nucleus disease cluster belonging to disease group neurological
CD40 Ligand
Celiac Disease An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite.
Cell Adhesion Molecules disease cluster belonging to disease group cardiovascular
Central Nervous System disease cluster belonging to disease group neurological
Cerebrum disease cluster belonging to disease group neurological
Chemokine CCL2 disease cluster belonging to disease group immune
Chemokines disease cluster belonging to disease group immune
Cholangitis, Sclerosing
Cholesterol disease cluster belonging to disease group metabolic
Cholesterol, HDL disease cluster belonging to disease group metabolic
Cholesterol, LDL Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Circadian Rhythm The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.
Citalopram disease cluster belonging to disease group pharmacogenomic
Cleft Lip
Cleft Palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Clozapine disease cluster belonging to disease group pharmacogenomic
Colitis, Ulcerative
Colonic Neoplasms
Colony-Forming Units Assay disease cluster belonging to disease group immune
Colorectal Neoplasms uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix.
Complement C4b-Binding Protein disease cluster belonging to disease group immune
Conduct Disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Cornea disease cluster belonging to disease group vision
Corneal Topography The measurement of curvature and shape of the anterior surface of the cornea using techniques such as keratometry, keratoscopy, photokeratoscopy, profile photography, computer-assisted image processing and videokeratography. This measurement is often applied in the fitting of contact lenses and in diagnosing corneal diseases or corneal changes including keratoconus, which occur after keratotomy and keratoplasty.
Coronary Artery Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Coronary Disease An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles.
Creatinine disease cluster belonging to disease group metabolic
Creutzfeldt-Jakob Syndrome
Crohn Disease An intestinal disease that involves inflammation located_in intestine.
Cystatin C
Cystatins disease cluster belonging to disease group metabolic
Cystic Fibrosis An autosomal recessive disease that is characterized by the buildup of thick, sticky mucus that can damage many organs.
Cytomegalovirus Vaccines disease cluster belonging to disease group infection
Death, Sudden, Cardiac
Dehydroepiandrosterone disease cluster belonging to disease group metabolic
Dehydroepiandrosterone Sulfate disease cluster belonging to disease group metabolic
Dengue Hemorrhagic Fever A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever.
Dental Caries
Depression A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Depressive Disorder A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Depressive Disorder, Major
Dermatitis, Atopic
Diabetes Mellitus
Diabetes Mellitus, Type 1
Diabetes Mellitus, Type 2
Diabetes, Gestational
Diabetic Nephropathies
Diabetic Retinopathy
DNA disease cluster belonging to disease group other
Docosahexaenoic Acids disease cluster belonging to disease group metabolic
Drinking Behavior Behaviors associated with the ingesting of water and other liquids; includes rhythmic patterns of drinking (time intervals - onset and duration), frequency and satiety.
Drug Toxicity
Drug-Induced Liver Injury A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, and chemicals from the environment.
Duodenal Ulcer Adding UMLS CUI for Curling Ulcer C0013295.
Dupuytren Contracture An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints.
Dysplastic Nevus Syndrome OMIM mapping confirmed by DO. [SN].
E-Selectin disease cluster belonging to disease group metabolic
Ear, External trait belonging to MESH category Anatomy Category
Echocardiography disease cluster belonging to disease group cardiovascular
Elbow trait belonging to MESH category Anatomy Category
Electrocardiography Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Emphysema
Endometrial Neoplasms
Endometriosis
Eosinophils disease cluster belonging to disease group hematological
Epilepsies, Partial
Epilepsy A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Erectile Dysfunction
Erythrocyte Count The number of red blood cells per unit volume in a sample of venous blood.
Erythrocyte Indices ERYTHROCYTE size and HEMOGLOBIN content or concentration, usually derived from ERYTHROCYTE COUNT; BLOOD hemoglobin concentration; and HEMATOCRIT. The indices include the mean corpuscular volume (MCV), the mean corpuscular hemoglobin (MCH), and the mean corpuscular hemoglobin concentration (MCHC).
Erythrocytes disease cluster belonging to disease group hematological
Esophageal Neoplasms
Esophagitis
Exercise Activity that requires physical or mental exertion, especially when performed to develop or maintain fitness.
Exercise Test Controlled physical activity, more strenuous than at rest, which is performed in order to allow assessment of physiological functions, particularly cardiovascular and pulmonary, but also aerobic capacity. Maximal (most intense) exercise is usually required but submaximal exercise is also used. The intensity of exercise is often graded, using criteria such as rate of work done, oxygen consumption, and heart rate.
Exfoliation Syndrome OMIM mapping confirmed by DO. [SN].
Exploratory Behavior The tendency to explore or investigate a novel environment. It is considered a motivation not clearly distinguishable from curiosity.
Extraversion (Psychology) A state in which attention is largely directed outward from the self.
Eye disease cluster belonging to disease group vision
Eye Color Color of the iris.
F8 protein, human [Supplementary Concept] trait belonging to MESH category other
Face
Factor VII
Ferritins disease cluster belonging to disease group hematological
Fetal Hemoglobin disease cluster belonging to disease group unknown
fibrin fragment D [Supplementary Concept] trait belonging to MESH category other
Fibrinogen disease cluster belonging to disease group metabolic
Fibromyoma disease cluster belonging to disease group cancer
Floxacillin disease cluster belonging to disease group pharmacogenomic
Follicle Stimulating Hormone
Forced Expiratory Volume Measure of the maximum amount of air that can be expelled in a given number of seconds during a FORCED VITAL CAPACITY determination . It is usually given as FEV followed by a subscript indicating the number of seconds over which the measurement is made, although it is sometimes given as a percentage of forced vital capacity.
Forced Vital Capacity The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Frontal Lobe disease cluster belonging to disease group neurological
Fuchs Endothelial Dystrophy A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision.
Functional Laterality Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.
Gallbladder Diseases
Gallbladder Neoplasms
Gallstones Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
gamma Glutamyltransferase disease cluster belonging to disease group metabolic
gamma-Glutamylcyclotransferase disease cluster belonging to disease group metabolic
gamma-Glutamyltransferase disease cluster belonging to disease group metabolic
Gaucher Disease A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Germinoma A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain.
Glaucoma
Glaucoma, Open-Angle
Glioblastoma
Glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
Glomerular Filtration Rate measurement of the flow rate of filtered fluid through the kidney, calculated either by comparative measurements of substances in the blood and urine, or estimated from a blood test
Glomerulonephritis, IGA
Glomerulonephritis, Membranous
Glomerulosclerosis, Focal Segmental
Glucose disease cluster belonging to disease group metabolic
Glucose Tolerance Test A test to determine the ability of an individual to maintain homeostatis of blood glucose. It includes measuring blood glucose levels in a fasting state, and at prescribed intervals before and after oral glucose intake (75 or 100 g) or intravenous infusion (0.5 g/kg).
Glucose Transporter Type 2 disease cluster belonging to disease group metabolic
Glucosylceramides disease cluster belonging to disease group metabolic
Glycoproteins disease cluster belonging to disease group metabolic
Goiter A thyroid gland disease that involves an abnormal enlargement of the thyroid gland.
Gout An arthritis that has_material_basis_in uric acid crystal deposits located_in joint.
Graves Disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
GRN protein, human [Supplementary Concept] trait belonging to MESH category other
Hair 1: A slender threadlike outgrowth of the epidermis of an animal; especially: one of the usually pigmented filaments that form the characteristic coat of a mammal.n2: The hairy covering of an animal or a body part; especially: the coating of hairs on a human head.
Hair Color Color of hair or fur.
Hand Strength disease cluster belonging to disease group aging
Haptoglobins disease cluster belonging to disease group hematological
Head and Neck Neoplasms Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)
Hearing Loss reduced ability to perceive auditory stimuli
Heart Atria disease cluster belonging to disease group cardiovascular
Heart Diseases
Heart Failure disease cluster belonging to disease group cardiovascular
Heart Function Tests A heart function measurement is a measurement of some heart function or process typically used to establish normal heart function or in process of diagnosis
Heart Rate The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
Hematocrit The volume of packed RED BLOOD CELLS in a blood specimen. The volume is measured by centrifugation in a tube with graduated markings, or with automated blood cell counters. It is an indicator of erythrocyte status in disease. For example, ANEMIA shows a low value; POLYCYTHEMIA, a high value.
Hemoglobin A, Glycosylated disease cluster belonging to disease group hematological
Hemoglobins disease cluster belonging to disease group hematological
Hepatitis B A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, transmitted_by blood transfusions, and transmitted_by fomites like needles or syringes. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis B Vaccines disease cluster belonging to disease group infection
Hepatitis B, Chronic
Hepatitis C A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis C virus, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Hepatitis C, Chronic
hepcidin [Supplementary Concept] trait belonging to MESH category other
Hip The laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.|The hip is an animal body part which is the laterally projecting region of each side of the lower or posterior part of the mammalian trunk formed by the lateral parts of the pelvis and upper part of the femur together with the fleshy parts covering them.|The lateral prominence of the pelvis from the waist to the thigh.
Hippocampus A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.|A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.
Hirschsprung Disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
HIV-1 disease cluster belonging to disease group infection
Hodgkin Disease A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Homocysteine disease cluster belonging to disease group metabolic
Hypertension
Hypertriglyceridemia An abnormal increase in the level of triglycerides in the blood.
Hypertrophy, Left Ventricular
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Hypothyroidism A thyroid gland disease which involves an underproduction of thyroid hormone.
Idiopathic Pulmonary Fibrosis An idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years.
Immunoglobulin A disease cluster belonging to disease group immune
Immunoglobulin E disease cluster belonging to disease group immune
Infertility, Male
Inflammation
Inflammatory Bowel Diseases
Insulin
Insulin Resistance Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels.
Insulin-Like Growth Factor Binding Protein 4 disease cluster belonging to disease group metabolic
Insulin-Like Growth Factor Binding Protein 5 disease cluster belonging to disease group metabolic
Insulin-Like Growth Factor I disease cluster belonging to disease group metabolic
Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
Intercellular Adhesion Molecule-1 disease cluster belonging to disease group other
Interleukin 1 Receptor Antagonist Protein
Interleukin-10
Interleukin-12 disease cluster belonging to disease group immune
Interleukin-18 disease cluster belonging to disease group immune
Interleukin-1beta disease cluster belonging to disease group immune
Interleukin-6
Intestinal Diseases
Intra-Abdominal Fat disease cluster belonging to disease group metabolic
Intracranial Aneurysm
Intuition Knowing or understanding without conscious use of reasoning. (Thesaurus of ERIC Descriptors, 1994)
Iris disease cluster belonging to disease group vision
Iron disease cluster belonging to disease group metabolic
Iron-Regulatory Proteins disease cluster belonging to disease group metabolic
Isoxazoles disease cluster belonging to disease group pharmacogenomic
Jaw Abnormalities any structural anomaly of the bony framework of the mouth where the teeth are held
Keloid A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar ( CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues.
Keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Kidney Calculi
Kidney Diseases
Kidney Failure, Chronic
L-Lactate Dehydrogenase disease cluster belonging to disease group metabolic
Leprosy A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage.
Leptin
Leukemia, Lymphocytic, Chronic, B-Cell
Leukemia, Lymphoid
Leukemia, Myeloid, Chronic-Phase
Leukocyte Count The number of WHITE BLOOD CELLS per unit volume in venous BLOOD. A differential leukocyte count measures the relative numbers of the different types of white cells.
Leukopenia A leukocyte disorder that is a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection.
Life Expectancy Based on known statistical data, the number of years which any person of a given age may reasonably be expected to live.
Lipid Metabolism disease cluster belonging to disease group metabolic
Lipids disease cluster belonging to disease group metabolic
lipoprotein A-I [Supplementary Concept] trait belonging to MESH category other
Lipoprotein(a) disease cluster belonging to disease group metabolic
Lipoproteins Lipid-protein complexes involved in the transportation and metabolism of lipids in the body. They are spherical particles consisting of a hydrophobic core of TRIGLYCERIDES and CHOLESTEROL ESTERS surrounded by a layer of hydrophilic free CHOLESTEROL; PHOSPHOLIPIDS; and APOLIPOPROTEINS. Lipoproteins are classified by their varying buoyant density and sizes.
Lipoproteins, HDL disease cluster belonging to disease group metabolic
Lipoproteins, LDL Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Lipoproteins, VLDL disease cluster belonging to disease group metabolic
Liver Cirrhosis, Biliary
Longevity The length of time of an organism's life.
Lung Neoplasms
Lupus Erythematosus, Systemic A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart.
Luteinizing Hormone disease cluster belonging to disease group reproduction
Lymphocyte Count A quantification of lymphocytes in blood.
Lymphocytes disease cluster belonging to disease group immune
Lymphoma, Large B-Cell, Diffuse
Lysine disease cluster belonging to disease group metabolic
Macular Degeneration A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye; symptoms include vision loss.
Magnesium disease cluster belonging to disease group metabolic
Malaria A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle.
Marijuana Abuse A substance abuse that involves the recurring use of cannabis despite negative consequences.
Matrix Metalloproteinases disease cluster belonging to disease group cardiovascular
Maximal Midexpiratory Flow Rate Measurement of rate of airflow over the middle half of a FORCED VITAL CAPACITY determination (from the 25 percent level to the 75 percent level). Common abbreviations are MMFR and FEF 25%-75%.
Melanoma A cell type cancer that has_material_basis_in abnormally proliferating cells derived_from melanocytes which are found in skin, the bowel and the eye.
Melanosis
Memory
Memory, Short-Term Remembrance of information for a few seconds to hours.
Menarche The first MENSTRUAL CYCLE marked by the initiation of MENSTRUATION.
Meningioma A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges.
Meningococcal Infections Infections with bacteria of the species NEISSERIA MENINGITIDIS.
Menopause The last menstrual period. Permanent cessation of menses (MENSTRUATION) is usually defined after 6 to 12 months of AMENORRHEA in a woman over 45 years of age. In the United States, menopause generally occurs in women between 48 and 55 years of age.
Mental Competency
Mental Disorders
Mental Processes Conceptual functions or thinking in all its forms.
Metabolic Syndrome X OMIM mapping confirmed by DO. [SN].
Metabolism disease cluster belonging to disease group metabolic
Metabolome disease cluster belonging to disease group metabolic
Metformin disease cluster belonging to disease group metabolic
Migraine Disorders
Migraine without Aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
monocyte chemoattractant protein 1 (66-77) [Supplementary Concept] trait belonging to MESH category other
Monocyte Chemoattractant Protein-1 disease cluster belonging to disease group immune
Monocytes disease cluster belonging to disease group immune
Mood Disorders
Mortality Is the quantification of the number of deaths is a population.
Movement Disorders
Moyamoya Disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Mucocutaneous Lymph Node Syndrome A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities.
Multiple Myeloma A myeloma that is located_in the plasma cells in bone marrow.
Multiple Sclerosis A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring.
Muscular Diseases
Myeloproliferative Disorders
Myocardial Infarction Xref MGI.
Myopia A refractive error characterized by the inability to see farther objects clearly.
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Nasopharyngeal Neoplasms
Natriuretic Peptide, Brain disease cluster belonging to disease group neurological
Neoplasms
Nephrolithiasis OMIM mapping confirmed by DO. [SN].
Nephrotic Syndrome Xref MGI.
Neuroanatomy disease cluster belonging to disease group neurological
Neurobehavioral Manifestations Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information.
Neuroblastoma An autonomic nervous system neoplasm that derives_from immature nerve cells.
Neurofibrillary Tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Neuropsychological Tests Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.
Neurotic Disorders
Neutrophils disease cluster belonging to disease group immune
Nevi and Melanomas disease cluster belonging to disease group cancer
Nevirapine disease cluster belonging to disease group pharmacogenomic
Non-alcoholic Fatty Liver Disease [Supplementary Concept] trait belonging to MESH category other
Nonalcoholic Fatty Liver Disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
Obesity OMIM mapping confirmed by DO. [SN].
Occipital Lobe disease cluster belonging to disease group aging
Ocular Physiological Phenomena disease cluster belonging to disease group neurological
Odontogenesis disease cluster belonging to disease group developmental
Oocytes disease cluster belonging to disease group reproduction
Optic Disk disease cluster belonging to disease group vision
Optic Nerve The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system.
Osteitis Deformans A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs.
Osteoarthritis An arthritis that has_material_basis_in worn out cartilage located_in joint.
Osteoarthritis, Knee
Osteonecrosis An ischemic bone disease that results_in necrosis located_in bone.
Osteoporosis A bone resorption disease that has_material_basis_in a drop in estrogen or testosterone which results_in the thinning of bone tissue and loss of bone mineral density.
Otosclerosis A labyrinthine disease characterized by an abnormal bone growth in the middle ear.
Ovarian Neoplasms
P-Selectin disease cluster belonging to disease group unknown
Paget's disease trait belonging to MESH category other
Pancreatic Neoplasms
Panic Disorder An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress.
Parietal Lobe disease cluster belonging to disease group aging
Parkinson Disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
Partial Thromboplastin Time The time required for the appearance of FIBRIN strands following the mixing of PLASMA with phospholipid platelet substitute (e.g., crude cephalins, soybean phosphatides). It is a test of the intrinsic pathway (factors VIII, IX, XI, and XII) and the common pathway (fibrinogen, prothrombin, factors V and X) of BLOOD COAGULATION. It is used as a screening test and to monitor HEPARIN therapy.
Peptides, Cyclic disease cluster belonging to disease group immune
Periodontitis
Peroxidase disease cluster belonging to disease group cardiovascular
Perphenazine disease cluster belonging to disease group pharmacogenomic
Personality Behavior-response patterns that characterize the individual.
Phenylalanine disease cluster belonging to disease group metabolic
Phosphatidylcholines disease cluster belonging to disease group metabolic
Phospholipids disease cluster belonging to disease group metabolic
Phosphorus disease cluster belonging to disease group metabolic
Phytosterols disease cluster belonging to disease group cardiovascular
Platelet Aggregation disease cluster belonging to disease group hematological
Platelet Count The number of PLATELETS per unit volume in a sample of venous BLOOD.
Polycystic Ovary Syndrome OMIM mapping confirmed by DO. [SN].
Polysaccharides disease cluster belonging to disease group metabolic
Potassium disease cluster belonging to disease group metabolic
Precursor Cell Lymphoblastic Leukemia-Lymphoma disease cluster belonging to disease group cancer
Prion Diseases
Prostate-Specific Antigen disease cluster belonging to disease group normalvariation
Prostatic Neoplasms
Protein C disease cluster belonging to disease group cardiovascular
Psoriasis A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales).
Psychomotor Performance The coordination of a sensory or ideational (cognitive) process and a motor activity.
Pulmonary Disease, Chronic Obstructive
Pulse disease cluster belonging to disease group cardiovascular
Pyloric Stenosis, Hypertrophic
Receptors, Interleukin-6 disease cluster belonging to disease group immune
Receptors, Leptin disease cluster belonging to disease group metabolic
Receptors, Transferrin disease cluster belonging to disease group metabolic
Receptors, Tumor Necrosis Factor disease cluster belonging to disease group cardiovascular
Receptors, Tumor Necrosis Factor, Type II disease cluster belonging to disease group cardiovascular
Recombination, Genetic Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Religion and Psychology
Resistin disease cluster belonging to disease group normalvariation
Respiration Disorders
Respiratory Function Tests Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
Response to radiation disease cluster belonging to disease group other
Restless Legs Syndrome A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them.
Retinal Vein Central retinal vein and its tributaries. It runs a short course within the optic nerve and then leaves and empties into the superior ophthalmic vein or cavernous sinus.
Rhabdomyolysis Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Rhinitis, Allergic, Seasonal
Risperidone disease cluster belonging to disease group pharmacogenomic
Sarcoma, Ewing disease cluster belonging to disease group cancer
Schizophrenia A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness.
Scleroderma, Systemic
Sclerosis
Sepsis Systemic inflammatory response to infection.
Serotonin Plasma Membrane Transport Proteins disease cluster belonging to disease group neurological
Serum Albumin disease cluster belonging to disease group metabolic
Serum Amyloid A Protein disease cluster belonging to disease group metabolic
Sex Hormone-Binding Globulin A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.|http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin
Sexual Dysfunctions, Psychological
Skin Pigmentation Coloration of the skin.
Sleep
Smoking disease cluster belonging to disease group cancer
Smoking Cessation Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Sneezing The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT.
Socioeconomic Factors disease cluster belonging to disease group other
Sodium disease cluster belonging to disease group metabolic
Sphingolipids disease cluster belonging to disease group metabolic
Sphingomyelins disease cluster belonging to disease group metabolic
Spondylitis, Ankylosing
Stevens-Johnson Syndrome
Stomach Neoplasms
Stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Subcutaneous Fat disease cluster belonging to disease group metabolic
Substance-Related Disorders
Suicidal Ideation A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm.
Suicide, Attempted The unsuccessful attempt to kill oneself.
Suntan An induced skin pigment ( MELANIN) darkening after exposure to SUNLIGHT or ULTRAVIOLET RAYS. The degree of tanning depends on the intensity and duration of UV exposure, and genetic factors.
Supranuclear Palsy, Progressive
Survival Time of survival is an information entity which is about the length of time a material entity has survived after some adverse event, such as infection from a disease.
Tamoxifen disease cluster belonging to disease group pharmacogenomic
Taste
tau Proteins disease cluster belonging to disease group neurological
Telomere A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
Temporal Lobe disease cluster belonging to disease group neurological
Testicular Neoplasms
Testosterone disease cluster belonging to disease group metabolic
Thyroid Neoplasms
Thyrotropin disease cluster belonging to disease group cardiovascular
Thyroxine disease cluster belonging to disease group cardiovascular
Tissue Plasminogen Activator disease cluster belonging to disease group cardiovascular
Tobacco Use Disorder
Tooth Eruption disease cluster belonging to disease group developmental
Transferrin
Triglycerides disease cluster belonging to disease group metabolic
Tuberculosis A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes.
Tumor Necrosis Factor-alpha Tumor necrosis factor (TNF, cachexin or cachectin formerly known as tumor necrosis factor-alpha or TNF-α) is a cytokine involved in systemic inflammation and is a member of a group of cytokines that stimulate the acute phase reaction. It is produced chiefly by activated macrophages, although it can be produced by other cell types as well.
Tunica Media disease cluster belonging to disease group cardiovascular
Uric Acid disease cluster belonging to disease group metabolic
Urinalysis disease cluster belonging to disease group renal
Urinary Bladder Neoplasms
Varicose Veins A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin.
Vascular Calcification Abnormal calcification of the vasculature.
Vascular Diseases
Vascular Endothelial Growth Factor A disease cluster belonging to disease group cardiovascular
Venous Thromboembolism Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.
Venous Thrombosis Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow.
Ventricular Function, Left The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance.
Visual Cortex disease cluster belonging to disease group vision
Vital Capacity The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
Vitamin A disease cluster belonging to disease group metabolic
Vitamin B 12 disease cluster belonging to disease group metabolic
Vitamin B 6 disease cluster belonging to disease group metabolic
Vitamin D
Vitamin E disease cluster belonging to disease group metabolic
Vitamin K disease cluster belonging to disease group metabolic
Vitiligo A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes.
von Willebrand Factor
Waist Circumference The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation.
Waist-Hip Ratio The waist circumference measurement divided by the hip circumference measurement. For both men and women, a waist-to-hip ratio (WHR) of 1.0 or higher is considered at risk for undesirable health consequences, such as heart disease and ailments associated with OVERWEIGHT. A healthy WHR is 0.90 or less for men, and 0.80 or less for women. (National Center for Chronic Disease Prevention and Health Promotion, 2004)
Walking disease cluster belonging to disease group cardiovascular
Warfarin disease cluster belonging to disease group pharmacogenomic