| Description | SNP-phenotype association p-values curated from published GWAS |
| Measurement | genetic association by data aggregation from genome-wide association and other genetic association studies |
| Association | gene-phenotype associations by manual GWAS curation |
| Category | disease or phenotype associations |
| Resource | GWAS Catalog |
| Citation(s) | |
| Last Updated | 2015 Apr 06 |
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Attribute Similarity
Gene Attribute
Gene Similarity
1007 sets of genes associated with phenotypes in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
| Gene Set | Description |
|---|---|
| β2-Glycoprotein I (β2-GPI) plasma levels | |
| 5-HTT brain serotonin transporter levels | A serotonir transported measurement is the quantification of serotonin transporter. Serotonin transporter regulates the levels of extracellular serotonin. The 5-HTT levels in brain can be measured using PET. |
| Abdominal aortic aneurysm | An aortic aneurysm that is located_in the abdominal aorta. |
| Acenocoumarol maintenance dosage | disease cluster belonging to disease group pharmacogenomic |
| Acne (severe) | |
| Activated 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. |
| Acute lymphoblastic leukemia (B-cell precursor) | |
| Acute lymphoblastic leukemia (childhood) | disease cluster belonging to disease group cancer |
| Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced) | |
| Addiction | strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds |
| Adiponectin levels | Adiponectin measurement is a measurement of the circulating hormone adiponectin in serum. Adiponectin regulated modulates glucose regulation and fatty acid catabolism. Adiponectin levels have been shown to beinversely correlated with with the risk of type 2 diabetes, coronary artery disease, stroke, and several metabolic traits. |
| Adiposity | disease cluster belonging to disease group metabolic |
| Adverse response to carbamapezine | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin) | |
| Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel) | |
| Adverse response to chemotherapy in breast cancer (alopecia) | |
| Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule) | |
| Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU) | |
| Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU) | |
| Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel) | |
| Adverse response to lamotrigine and phenytoin | |
| Age of smoking initiation | |
| Age-related hearing impairment | Age-related hearing impairment is characterized by a symmetric sensorineural hearing loss that is most pronounced in the high frequencies. Age of onset, progression, and severity of age-related hearing impairment (ARHI) show great variation in the population, but with a demonstrable increased prevalence in males. |
| Age-related hearing impairment (interaction) | |
| Age-related macular degeneration | A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. |
| Age-related macular degeneration (CNV vs. GA) | |
| Age-related macular degeneration (CNV) | |
| Age-related macular degeneration (extreme sampling) | |
| Age-related macular degeneration (GA) | |
| Age-related macular degeneration (wet) | disease cluster belonging to disease group vision |
| Age-related nuclear cataracts | |
| Aging | |
| Aging (time to death) | |
| Aging (time to event) | |
| Aging traits | disease cluster belonging to disease group aging |
| AIDS | 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. |
| AIDS progression | disease cluster belonging to disease group infection |
| Airflow obstruction | |
| Airway hyperresponsiveness | one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility |
| Alcohol and nictotine co-dependence | |
| Alcohol consumption | Behaviors associated with the ingesting of alcoholic beverages, including social drinking. |
| Alcohol consumption (maxi-drinks) | |
| Alcohol consumption (transferrin glycosylation) | |
| Alcohol dependence | |
| Alcohol dependence (age at onset) | |
| Alcoholism (12-month weekly alcohol consumption) | |
| Alcoholism (alcohol dependence factor score) | |
| Alcoholism (alcohol use disorder factor score) | |
| Alcoholism (heaviness of drinking) | |
| Allergic dermatitis (nickel) | |
| Allergic rhinitis | A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. |
| Allergic sensitization | |
| 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's 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. |
| Alzheimer's disease (age of onset) | |
| Alzheimer's disease (cognitive decline) | |
| Alzheimer's disease (late onset) | disease cluster belonging to disease group neurological |
| Alzheimer's disease biomarkers | |
| Amyloid A serum levels | |
| 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. |
| Amyotrophic lateral sclerosis (age of onset) | |
| Amyotrophic lateral sclerosis (sporadic) | |
| Androgen levels | disease cluster belonging to disease group other |
| Anger | disease cluster belonging to disease group psych |
| Angiotensin-converting enzyme activity | angiotensin converting ezyme activity level|An angiotensin converting enzyme (ACE) activity measurement measures the ACE activity in the blood. ACE mediates extracellular volume by participation in the renin-angiotensin system and is a therefore target for ACE inhibitors which aim to reduce blood pressure|ACE activity level |
| Ankylosing spondylitis | A bone inflammation disease that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. |
| 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. |
| Anterior chamber depth | |
| Anthropometric traits | Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body. |
| Anti-cyclic Citrullinated Peptide Antibody | |
| Antibody status in Tripanosoma cruzi seropositivity | |
| Anticoagulant levels | |
| Antineutrophil cytoplasmic antibody-associated vasculitis | |
| Antipsychotic-induced QTc interval prolongation | |
| Anxiety and major depressive disorder | |
| Anxiety in major depressive disorder | |
| Aortic root size | The aortic root size is the size of the part of the ascending aorta beginning at the aortic annulus and extending to the sinotubular junction |
| Aortic-valve calcification | Deposition of calcium salts in the aortic valve. |
| Apolipoprotein Levels | |
| Arsenic metabolism | disease cluster belonging to disease group pharmacogenomic |
| Arterial stiffness | An Arterial stiffness measurement is the information output of a non invasive pulse wave velocity assay. Arterial stiffness is a predictor of cardiovascular mortality |
| Arthritis (juvenile idiopathic) | disease cluster belonging to disease group immune |
| Asparaginase hypersensitivity in acute lymphoblastic leukemia | |
| Asperger disorder | |
| 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. |
| Asthma (bronchodilator response) | |
| Asthma (childhood onset) | disease cluster belonging to disease group immune |
| Asthma (childhood, severe) | |
| Asthma (corticosteroid response) | |
| Asthma (sex interaction) | |
| Asthma (toluene diisocyanate-induced) | disease cluster belonging to disease group immune |
| Asthma and hay fever | |
| Asthma or chronic obstructive pulmonary disease | |
| Atopic dermatitis | A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. |
| Atopy | |
| 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. |
| Atrioventricular conduction | |
| Attention deficit hyperactivity disorder | A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. |
| Attention deficit hyperactivity disorder (combined symptoms) | |
| Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms) | |
| Attention deficit hyperactivity disorder (inattention symptoms) | |
| Attention deficit hyperactivity disorder (time to onset) | disease cluster belonging to disease group psych |
| Attention deficit hyperactivity disorder and conduct disorder | disease cluster belonging to disease group psych |
| Attention deficit hyperactivity disorder symptoms (interaction) | disease cluster belonging to disease group psych |
| Autism | 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. |
| Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) | |
| Autoimmune hepatitis type-1 | |
| Axial length | quantification of the distance between the anterior surface of the cornea and the fovea, usually measured by A-scan ultrasonography or optical coherence biometry |
| Barrett's esophagus | |
| Basal cell carcinoma | A skin carcinoma affecting basal cells. |
| Behavioural disinhibition (generation interaction) | |
| Behcet's disease | 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. |
| Beta thalassemia/hemoglobin E disease | disease cluster belonging to disease group hematological |
| Beta-2 microglubulin plasma levels | |
| Biliary atresia | A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. |
| Bilirubin levels | A bilirubin measurement is a quantification of bilirubin typically measured in serum. |
| Biochemical measures | disease cluster belonging to disease group other |
| Biomedical quantitative traits | disease cluster belonging to disease group other |
| Bipolar disorder | A mood disorder that involves alternating periods of mania and depression. |
| Bipolar disorder (age of onset and psychomotor symptoms) | |
| Bipolar disorder (body mass index interaction) | |
| Bipolar disorder (mood-incongruent) | |
| Bipolar disorder and major depressive disorder (combined) | |
| Bipolar disorder and schizophrenia | |
| Bipolar I disorder | A bipolar disorder that is characterized by at least one manic or mixed episode. |
| Birdshot chorioretinopathy | Birdshot chorioretinopathy is a posterior uveitis characterized by multiple cream-colored, hypopigmented choroidal lesions in the fundus and a strong association with HLA-A29 and clinically presenting with blurred vision, floaters, photopsia, scotoma and nyctalopia. |
| Birth weight | The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms. |
| Bitter taste perception | |
| Black vs. blond hair color | disease cluster belonging to disease group other |
| Black vs. red hair color | disease cluster belonging to disease group other |
| Bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| Bladder cancer (smoking interaction) | |
| Blond vs. brown hair color | disease cluster belonging to disease group other |
| Blood metabolite levels | |
| Blood metabolite ratios | |
| Blood pressure | PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. |
| Blood pressure (age interaction) | |
| Blood pressure measurement (cold pressor test) | |
| Blood pressure measurement (high sodium and potassium intervention) | |
| Blood pressure measurement (high sodium intervention) | |
| Blood pressure measurement (low sodium intervention) | |
| Blood trace element (Cu levels) | |
| Blood trace element (Se levels) | |
| Blood trace element (Zn levels) | |
| Blue vs. brown eyes | disease cluster belonging to disease group other |
| Blue vs. green eyes | disease cluster belonging to disease group other |
| Body mass (lean) | disease cluster belonging to disease group metabolic |
| Body mass in chronic obstructive pulmonary disease | |
| 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 mass index (asthmatics) | |
| Body mass index (education interaction) | |
| Body mass index (interaction) | |
| Body mass index (non-asthmatics) | |
| Body mass index and cholesterol (psychopharmacological treatment) | |
| Bone mineral 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. |
| Bone mineral density (hip) | disease cluster belonging to disease group metabolic |
| Bone mineral density (paediatric, lower limb) | |
| Bone mineral density (paediatric, skull) | |
| Bone mineral density (paediatric, total body less head) | |
| Bone mineral density (paediatric, upper limb) | |
| Bone mineral density (spine) | disease cluster belonging to disease group metabolic |
| Bone properties (heel) | |
| Borderline personality disorder features | |
| Brain connectivity | |
| Brain cytoarchitecture | |
| Brain imaging in schizophrenia (interaction) | disease cluster belonging to disease group psych |
| Brain lesion load | disease cluster belonging to disease group immune |
| Brain structure | disease cluster belonging to disease group neurological |
| Brain structure (hippocampal volume) | |
| Brain structure (temporal lobe volume) | |
| Breast cancer | A thoracic cancer that originates in the mammary gland. |
| Breast cancer (early onset) | |
| Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative) | |
| Breast cancer (male) | disease cluster belonging to disease group cancer |
| Breast cancer (menopausal hormone therapy interaction) | |
| Breast cancer (prognosis) | |
| Breast cancer (survival) | disease cluster belonging to disease group cancer |
| Breast Cancer in BRCA1 mutation carriers | |
| Breast cancer in BRCA2 mutation carriers | |
| Breast size | Is a quantification of some aspect of breast size |
| Bronchodilator response in asthma (inhaled corticosteroid treatment interaction) | |
| Bronchopulmonary dysplasia | Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of respiratory distress syndrome in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring. |
| Brugada syndrome | A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. |
| Bulimia nervosa | An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. |
| Butyrylcholinesterase levels | A butyrylcholinesterase measurement is a quanitification of butyrylcholinesterase a non-specific cholinesterase enzyme that hydrolyses many different choline esters. It is found in liver in humans. |
| C-reactive protein | disease cluster belonging to disease group immune |
| C-reactive protein and white blood cell count | |
| C-reactive protein levels | |
| C4b binding protein levels | A C4BP measurement is the quantification of C4BP, it controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. Alpha chain binds C4b. It interacts also with anticoagulant protein S and with serum amyloid P component. (Uniprot defintion) |
| Caffeine consumption | Behaviors associated with the ingesting of coffee |
| Calcium levels | Is a quantification of calcium, typically in serum. Calcium (Ca2+) plays a pivotal role in the physiology and biochemistry of organisms and the cell. It plays an important role in signal transduction pathways, where it acts as a second messenger, in neurotransmitter release from neurons, contraction of all muscle cell types, and fertilization. Many enzymes require calcium ions as a cofactor, those of the blood-clotting cascade being notable examples. Extracellular calcium is also important for maintaining the potential difference across excitable cell membranes, as well as proper bone formation. |
| Callous-unemotional behaviour | bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness |
| Cannabis dependence | A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. |
| Cannabis use (initiation) | |
| Capecitabine sensitivity | |
| Cardiac hypertrophy | an increase in size of the cardiac tissue, not due to increased cell number |
| Cardiac muscle measurement | |
| Cardiac repolarization | disease cluster belonging to disease group cardiovascular |
| Cardiac structure and function | disease cluster belonging to disease group cardiovascular |
| Cardiac Troponin-T levels | Is a quatification of cardiac troponin T, typically measured in blood. Cardiac troponin T measurements are used as a marker of cardiac muscle damage and used in the diagnosis of myocardial infarction. |
| Cardiovascular disease risk factors | disease cluster belonging to disease group cardiovascular |
| Carotid atherosclerosis in HIV infection | disease cluster belonging to disease group cardiovascular |
| Carotid intima media thickness | disease cluster belonging to disease group cardiovascular |
| Cataracts in type 2 diabetes | |
| Caudate nucleus volume | The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders |
| 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. |
| Celiac disease and Rheumatoid arthritis | |
| Central corneal thickness | A measure of the corneal thickness (CCT). This can be measured by contact e.g. ultrasound, confocal microscpy or non contact methods e.g. biometry. Reduced central corneal thickness is used as an indicator for glaucoma. |
| Cerebrospinal AB1-42 levels | |
| Cerebrospinal P-tau181p levels | |
| Cerebrospinal T-tau levels | |
| Cervical cancer | A female reproductive organ cancer that is located_in the cervix. |
| Chagas cardiomyopathy in Tripanosoma cruzi seropositivity | |
| Chemerin levels | A chemerin measurement is a quantification of chemerin typically in serum. Chemerin is an adipokine with important regulatory roles in adipogenesis. In humans, serum total chemerin (i.e. prochemerin plus chemerin) levels are positively associated with body mass index and metabolic syndrome (http://www.ncbi.nlm.nih.gov/pubmed/20363880) |
| Cholesterol | disease cluster belonging to disease group metabolic |
| Cholesterol and Triglycerides | |
| Cholesterol, total | A total cholesterol measurement is the quantification of cholesterol in blood, total cholesterol is defined as the sum of HDL, LDL, and VLDL. |
| Chronic hepatitis B infection | INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact. |
| Chronic hepatitis C infection | disease cluster belonging to disease group infection |
| Chronic kidney disease | Functional anomaly of the kidney persisting for at least three months. |
| Chronic kidney disease and serum creatinine levels | |
| Chronic lymphocytic leukemia | A lymphoblastic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. |
| Chronic mucus hypersecretion | |
| Chronic myeloid leukemia | A myeloid leukemia that is characterized by over production of white blood cells. |
| Chronic obstructive pulmonary disease | |
| Chronic obstructive pulmonary disease (moderate to severe) | |
| Chronic obstructive pulmonary disease (severe) | |
| Chronic obstructive pulmonary disease-related biomarkers | |
| Chronic periodontitis | |
| Circulating myeloperoxidase levels (plasma) | |
| Circulating myeloperoxidase levels (serum) | |
| Circulating vasoactive peptide levels | |
| Cleft plate (environmental tobacco smoke interaction) | |
| Clubfoot | OMIM mapping confirmed by DO. [SN]. |
| Coagulation factor levels | |
| Cocaine dependence | A drug dependence that is a psychological dependency on the regular use of cocaine. |
| Coffee consumption | Behaviors associated with the ingesting of coffee |
| Cognitive decline | Loss of previously present mental abilities, generally in adults. |
| Cognitive decline (age-related) | |
| Cognitive function | Intellectual or mental process whereby an organism becomes aware of or obtains knowledge. |
| Cognitive performance | 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. |
| Cognitive test performance | 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. |
| Colorectal cancer | A large intestine cancer that is located_in the colon and/or located_in the rectum. |
| Colorectal cancer (diet interaction) | |
| Common traits (Other) | |
| Complement C3 and C4 levels | |
| Comprehensive strength and appendicular lean mass | |
| Conduct disorder | A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. |
| Conduct disorder (interaction) | disease cluster belonging to disease group psych |
| Conduct disorder (symptom count) | |
| Congenital heart disease | OMIM mapping confirmed by DO. [SN]. |
| Congenital heart malformation | any structural anomly of the heart that is present from birth |
| Conotruncal heart defects | A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. |
| Contrast sensitivity | |
| Corneal astigmatism | |
| Corneal curvature | |
| Corneal structure | |
| Coronary artery calcification | Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries. |
| 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 artery disease or ischemic stroke | |
| Coronary artery disease or large artery stroke | |
| Coronary heart 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. |
| Cortical structure | |
| Cortical thickness | Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease. |
| Creatinine levels | A serum creatinine measurement is a measure of the metabolite creatinine performed in the serum, and is used in assessment of kidney function. |
| Creutzfeldt-Jakob disease | OMIM mapping confirmed by DO. [SN]. |
| Creutzfeldt-Jakob disease (variant) | |
| Crohn's disease | An intestinal disease that involves inflammation located_in intestine. |
| Crohn's disease (need for surgery) | |
| Crohn's disease (time to surgery) | |
| Crohn's disease and celiac disease | |
| Crohn's disease and psoriasis | |
| Cutaneous nevi | disease cluster belonging to disease group other |
| Cystic fibrosis severity | |
| Cytomegalovirus antibody response | |
| D-dimer levels | A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis. |
| Dehydroepiandrosterone sulphate levels | |
| Dengue shock syndrome | A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. |
| Dental caries | |
| Depression (quantitative trait) | |
| Depression and alcohol dependence | |
| Diabetes (gestational) | |
| Diabetes related insulin traits | disease cluster belonging to disease group metabolic |
| Diabetic retinopathy | |
| Dialysis-related mortality | |
| Diastolic blood pressure | PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. |
| Diastolic blood pressure (alcohol consumption interaction) | |
| Dietary macronutrient intake | |
| Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined) | |
| Digit length ratio | Is the ratio of 2D:4D used a a marker for prenatal androgen exposure. |
| Dilated cardiomyopathy | An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart. |
| Disc degeneration (lumbar) | |
| DNA methylation (variation) | |
| 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-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. |
| Drug-induced liver injury (amoxicillin-clavulanate) | |
| Drug-induced liver injury (flucloxacillin) | disease cluster belonging to disease group pharmacogenomic |
| Drug-induced torsades de pointes | |
| Duodenal ulcer | Adding UMLS CUI for Curling Ulcer C0013295. |
| Dupuytren's disease | disease cluster belonging to disease group other |
| Eating disorders | |
| Eating disorders (purging via substances) | |
| Echocardiographic traits | disease cluster belonging to disease group cardiovascular |
| Economic and political preferences | |
| Economic and political preferences (environmentalism) | |
| Economic and political preferences (fairness) | |
| Economic and political preferences (feminism/equality) | |
| Economic and political preferences (immigration/crime) | |
| Economic and political preferences (time) | |
| Educational attainment | |
| Ejection fraction in Tripanosoma cruzi seropositivity | |
| Electrocardiographic conduction measures | disease cluster belonging to disease group cardiovascular |
| Electrocardiographic traits | disease cluster belonging to disease group cardiovascular |
| Electroencephalographic traits in alcoholism | |
| Elevated serum carcinoembryonic antigen levels | |
| Emphysema-related traits | |
| End-stage coagulation | |
| End-stage renal disease | |
| Endometrial cancer | A uterine cancer that is located_in tissues lining the uterus. |
| Endometriosis | |
| Endothelial function traits | disease cluster belonging to disease group cardiovascular |
| Entorhinal cortical thickness | |
| Eosinophil counts | |
| Eosinophilic esophagitis (pediatric) | disease cluster belonging to disease group other |
| 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. |
| Epilepsy (generalized) | |
| Epilepsy (remission after treatment) | |
| Epirubicin-induced leukopenia | |
| Epstein-Barr virus immune response (EBNA-1) | |
| Erectile dysfunction | |
| Erectile dysfunction and prostate cancer treatment | |
| Erythrocyte sedimentation rate | Measurement of rate of settling of erythrocytes in anticoagulated blood. |
| Esophageal adenocarcinoma | Esophageal adenocarcinoma (EAC) is a sub-type of esophageal carcinoma (EC; see this term) affecting the glandular cells of the lower esophagus at the junction with the stomach. |
| Esophageal cancer | A gastrointestinal system cancer that is located_in the esophagus. |
| Esophageal cancer (alcohol interaction) | |
| Esophageal cancer (squamous cell) | |
| Esophageal cancer and gastric cancer | |
| Esophageal squamous cell cancer (length of survival) | |
| Essential tremor | A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. |
| Estradiol levels | Is a quantification of circulating estradiol a circulating steriod sex hormone. |
| Estradiol plasma levels (breast cancer) | |
| Event-related brain oscillations | The measurement of wave-like oscillations of electric potential between parts of the brain recorded by EEG that are the result of a specific stimulus |
| Ewing sarcoma | A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm. |
| Exercise (leisure time) | disease cluster belonging to disease group other |
| Exercise treadmill test traits | disease cluster belonging to disease group other |
| Exfoliation glaucoma or exfoliation syndrome | |
| Eye color | Color of the iris. |
| Eye color traits | |
| F-cell distribution | disease cluster belonging to disease group hematological |
| Facial morphology | Any measurable or observable characteristic related to the shape, structure, color or pattern of the region of the body that includes the front part of the head from the chin to the top of the forehead, where the mouth, eyes, nose, and other features are located. |
| Factor VII | |
| Fasting glucose-related traits | An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating. |
| Fasting glucose-related traits (interaction with BMI) | |
| Fasting insulin (interaction) | |
| Fasting insulin-related traits | A fasting blood insulin measurement is a measurement of insulin in the blood at a predetermined point after the patient has fasted |
| Fasting insulin-related traits (interaction with BMI) | |
| Fasting plasma glucose | An fasting blood glucose measurement is a measurement of glucose in the blood of a patient at some defined time point after eating. |
| Fat body mass | The weight of the individual's body fat. |
| Fat distribution (HIV) | |
| Femoral neck bone geometry | Femoral neck bone geometry is the quantification of the dimensions of the femoral neck bone of the femur. Femoral neck bone geometry is used in determining risk of hip fracture. |
| Femoral neck bone geometry and menarche (age at onset) | |
| Fetal hemoglobin levels | A fetal hemoglobin measurement is the quantification of fetal hemoglobin typically measured in the blood of children for diagnosis of congenital disease. |
| Fibrinogen | disease cluster belonging to disease group metabolic |
| Folate pathway vitamin levels | disease cluster belonging to disease group metabolic |
| Follicular lymphoma | A non-Hodgkin lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). |
| Follicule stimulating hormone | |
| Forced vital capacity | The volume of air that is exhaled by a maximal expiration following a maximal inspiration. |
| Fractional exhaled nitric oxide (childhood) | |
| Freckles | disease cluster belonging to disease group developmental |
| Freckling | The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. |
| Free thyroxine concentration | |
| Fuchs's corneal dystrophy | |
| Functional impairment in major depressive disorder, bipolar disorder and schizophrenia | |
| Functional MRI | |
| Gallbladder cancer | A biliary tract cancer that is located_in the gallbladder. |
| Gambling | An activity distinguished primarily by an element of risk in trying to obtain a desired goal, e.g., playing a game of chance for money. |
| Gamma gluatamyl transferase levels | Serum gamma-glutamyl transferase level measurement is the quantification of gamma-glutamyl transferase in blood. Gamma-glutamyl transferase is used as a marker for liver/bile duct problems and alcohol abuse. |
| Gamma glutamyl transpeptidase | |
| Gastric cancer | disease cluster belonging to disease group cancer |
| Gaucher disease severity | |
| Glaucoma | |
| Glaucoma (primary open-angle) | disease cluster belonging to disease group vision |
| Glioblastoma | |
| Glioma | A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine. |
| Glioma (high-grade) | disease cluster belonging to disease group cancer |
| 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 |
| Glomerulosclerosis | A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. |
| Glycated hemoglobin levels | An A1C measurement is a quantification of glycated A1C hemoglobin in blood used as an index for blood glucose level over several months. |
| Glycemic traits | |
| Glycemic traits (pregnancy) | |
| 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. |
| Gray matter volume (schizophrenia interaction) | |
| Hair color | Color of hair or fur. |
| Hair morphology | Any measurable or observable characteristic related to the shape, structure, color, or pattern of the fine, keratinized filamentous growths arising from the epidermis of mammals. |
| Handedness in dyslexia | |
| HDL cholesterol | disease cluster belonging to disease group metabolic |
| HDL Cholesterol - Triglycerides (HDLC-TG) | |
| Head circumference (infant) | |
| Hearing impairment | A decreased magnitude of the sensory perception of sound. |
| Heart failure | disease cluster belonging to disease group cardiovascular |
| Heart rate | The number of times the HEART VENTRICLES contract per unit of time, usually per minute. |
| Heart rate variability traits | disease cluster belonging to disease group cardiovascular |
| Height | The distance from the sole to the crown of the head with body standing on a flat surface and fully extended. |
| Helicobacter pylori serologic status | |
| 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. |
| Hematological and biochemical traits | |
| Hematological parameters | disease cluster belonging to disease group hematological |
| Hematology traits | |
| Hemoglobin | disease cluster belonging to disease group hematological |
| Hemostatic factors and hematological phenotypes | 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 (viral clearance) | |
| Hepatitis B vaccine response | |
| Hepatitis C induced liver cirrhosis | liver injury resulting from hepatitis C infection |
| Hepatitis C induced liver fibrosis | |
| Hepatocellular carcinoma | A liver carcinoma that has_material_basis_in undifferentiated hepatocytes. |
| Hepatocellular carcinoma (hepatitis B virus related) | |
| Hepcidin levels | A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism. |
| Hip bone size | Is a quantification of the size of a human hip bone. |
| Hip geometry | Measurements of the hip. |
| Hippocampal atrophy | Atrophy of the hippocampus as a result of some external stress or disease |
| Hippocampal sclerosis of aging | age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus |
| Hippocampal volume | Measurement of the volume of the hippocampus |
| Hirschsprung's disease | A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. |
| HIV-1 control | disease cluster belonging to disease group infection |
| HIV-1 progression | |
| HIV-1 replication | |
| HIV-1 susceptibility | |
| HIV-1 viral setpoint | |
| HIV-associated dementia | A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.|A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems. |
| Hodgkin's lymphoma | A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. |
| Homeostasis model assessment of beta-cell function (interaction) | |
| Homeostasis model assessment of insulin resistance (interaction) | |
| Homocysteine levels | A homocysteine measurement is the quantification of homocsyteine in blood or urine and is used in the diagnosis of B12 and/or folate deficiency, and as part of a cardiac risk assessment. |
| Hormone measurements | |
| Hyperactive-impulsive symptoms | disease cluster belonging to disease group psych |
| Hypersomnia (HLA-DQB1*06:02 negative) | |
| Hypertension | |
| Hypertension risk in short sleep duration | |
| Hypertriglyceridemia | An abnormal increase in the level of triglycerides in the blood. |
| 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. |
| IFN-related cytopenia | |
| IgA nephropathy | A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. |
| IgE grass sensitization | |
| IgE levels | A serum immunoglobulin E measurement is the measurement of the IgE antibody isotype produced by plasma cells in response to an immunogen and which function as antibodies, measured in serum. IgE's main function is immunity to parasites such as parasitic worms and it plays an essential role in the allergy disorder, and is especially associated with type I hypersensitivity. |
| IgE levels in asthmatics | |
| IgE levels in asthmatics (D.f. specific) | |
| IgG glycosylation | |
| IgG levels | |
| IgM levels | Is a quantification of immunoglobulin M, an antibody produced by B cells. |
| Ileal carcinoids | |
| Illicit drug use | |
| Immune reponse to smallpox (secreted IFN-alpha) | |
| Immune reponse to smallpox (secreted IL-10) | |
| Immune reponse to smallpox (secreted IL-12p40) | |
| Immune reponse to smallpox (secreted IL-1beta) | |
| Immune reponse to smallpox (secreted IL-2) | |
| Immune reponse to smallpox (secreted TNF-alpha) | |
| Immune response to anthrax vaccine | |
| Immune response to measles-mumps-rubella vaccine | |
| Immune response to smallpox vaccine (IL-6) | |
| Immunoglobulin A | disease cluster belonging to disease group immune |
| Inattentive symptoms | disease cluster belonging to disease group psych |
| Infantile hypertrophic pyloric stenosis | This condition is caused by diffuse hypertrophy and hyperplasia of the smooth muscle of the antrum of the stomach and pylorus. It usually occurs in infants aged 2-8 weeks. The pyloric muscle hypertrophy results in narrowing of the pyloric canal, which can then become easily obstructed. Genetic studies have identified susceptibility loci for infantile hypertrophic pyloric stenosis (IHPS) and molecular studies have concluded that smooth muscle cells are not properly innervated in this condition. |
| Inflammatory biomarkers | |
| Inflammatory bowel disease | An intestinal disease characterized by inflammation located_in all parts of digestive tract. |
| Inflammatory bowel disease (early onset) | disease cluster belonging to disease group immune |
| Information processing speed | |
| Insomnia | |
| Insomnia (caffeine-induced) | |
| Insulin resistance/response | |
| Insulin-like growth factors | disease cluster belonging to disease group unknown |
| Insulin-related traits | |
| Intelligence | The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions. |
| Intelligence (childhood) | |
| Interleukin-18 levels | An IL-18 measurement is the quantification of IL-18, typically in blood. |
| Interstitial lung disease | |
| Intracranial aneurysm | |
| Intracranial volume | Is a quantification of intracranial volume. |
| Intraocular pressure | |
| Iris characteristics | |
| Iris color | Color of the iris. |
| Iron deficiency | |
| Iron levels | disease cluster belonging to disease group metabolic |
| Iron status biomarkers | An iron biomarker measurement is a measurement of some molecule e.g. protein or metabolite which is used as a measure of iron metabolism |
| Irritable bowel syndrome | A syndrome that is a functional bowel disorder characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. |
| Ischemic stroke | |
| Job-related exhaustion | |
| Kawasaki disease | 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. |
| 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. |
| Kidney stones | OMIM mapping confirmed by DO. [SN]. |
| Knee osteoarthritis | |
| Large artery stroke | stroke caused by the blockage of blood flow in one of the large arteries feeding the brain |
| Large B-cell lymphoma | |
| LDL (oxidized) | |
| LDL cholesterol | Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol. |
| Left ventricular mass | disease cluster belonging to disease group cardiovascular |
| Lentiform nucleus volume | Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI. |
| 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. |
| Life threatening arrhythmia | |
| Lipid metabolism phenotypes | |
| Lipid traits | |
| Lipoprotein-associated phospholipase A2 activity and mass | |
| Lipoprotein-associated phospholipase A2 activity change in response to statin therapy | |
| Liver enzyme levels | A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function. |
| Liver enzyme levels (alanine transaminase) | |
| Liver enzyme levels (alkaline phosphatase) | |
| Liver enzyme levels (aspartate transaminase) | |
| Liver enzyme levels (gamma-glutamyl transferase) | |
| Lobular breast cancer (menopausal hormone therapy interaction) | |
| Longevity | The length of time of an organism's life. |
| Longevity (85 years and older) | |
| Longevity (90 years and older) | |
| Lp (a) levels | disease cluster belonging to disease group metabolic |
| Lumiracoxib-related liver injury | |
| Lung adenocarcinoma | A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin. |
| Lung cancer | A respiratory system cancer that is located_in the lung. |
| Lung Cancer (DNA repair capacity) | |
| Lung cancer (smoking interaction) | |
| Lung cancer-asbestos exposure interaction | |
| Lung function (forced expiratory flow between 25% and 75% of forced vital capacity) | |
| Lung function (forced expiratory volume in 1 second to forced vital capacity ratio) | |
| Lung function (forced expiratory volume in 1 second) | |
| Lung function (forced vital capacity) | |
| Lupus nephritis in systemic lupus erythematosus | |
| Lymphocyte counts | A quantification of lymphocytes in blood. |
| Lymphoma | A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. |
| Magnesium levels | |
| Major depressive disorder | An endogenous depression that is characterized by an all-encompassing low mood accompanied by low self-esteem, and by loss of interest or pleasure in normally enjoyable activities. |
| Major depressive disorder (broad) | disease cluster belonging to disease group psych |
| Major mood disorders | |
| 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. |
| Male infertility | |
| Male-pattern baldness | disease cluster belonging to disease group other |
| Mammographic density | disease cluster belonging to disease group other |
| Mathematical ability in children with dyslexia | |
| Matrix metalloproteinase levels | |
| Mean arterial pressure (alcohol consumption interaction) | |
| Mean corpuscular hemoglobin | The MCH is the average mass of hemoglobin per red blood cell in a sample of blood and is calculated by dividing the total mass of hemoglobin by the RBC count |
| Mean corpuscular hemoglobin concentration | The mean corpuscular gemoglobin concentration is a measure of the concentration of hemoglobin in a given volume of packed red blood cell |
| Mean corpuscular volume | A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample. |
| Mean forced vital capacity from 2 exams | disease cluster belonging to disease group cardiovascular |
| Mean platelet volume | A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood |
| 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. |
| Memory performance | Is a quantification of a subject's activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. Memory performance is typically assessed by some clinical memory test and is used in the diagnosis of diseases such as Alzheimer's disease. |
| Menarche (age at onset) | disease cluster belonging to disease group reproduction |
| Menarche and menopause (age at onset) | disease cluster belonging to disease group reproduction |
| 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 disease | Infections with bacteria of the species NEISSERIA MENINGITIDIS. |
| Menopause (age at onset) | disease cluster belonging to disease group reproduction |
| Metabolic syndrome | OMIM mapping confirmed by DO. [SN]. |
| Metabolic syndrome (bivariate traits) | |
| Metabolic traits | disease cluster belonging to disease group metabolic |
| Metabolite levels | The quantification of some metabolite.|This is an annotation class for metabolite measurements where the exact metabolite measurements are unknown. Do not annotate to this class. |
| Metabolite levels (X-11787) | |
| Metabolite levels (5-HIAA) | |
| Metabolite levels (5-HIAA/ MHPG Ratio) | |
| Metabolite levels (Dihydroxy docosatrienoic acid) | |
| Metabolite levels (HVA) | |
| Metabolite levels (HVA-5-HIAA Factor score) | |
| Metabolite levels (HVA/5-HIAA ratio) | |
| Metabolite levels (HVA/MHPG ratio) | |
| Metabolite levels (MHPG) | |
| Metabolite levels (Pyroglutamine) | |
| Methamphetamine dependence | disease cluster belonging to disease group chemdependency |
| Methotrexate clearance (acute lymphoblastic leukemia) | |
| Methotrexate phramacokinetics (acute lymphoblastic leukemia) | |
| Migraine | A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. |
| Migraine - clinic-based | |
| Migraine with aura | A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. |
| Migraine without aura | A migraine that is characterized by migraine headaches that are not accompanied by an aura. |
| Molar-incisor hypomineralization | a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors |
| Monocyte chemoattractant protein-1 | disease cluster belonging to disease group immune |
| Monocyte count | quantification of monocytes in the blood |
| Monocyte early outgrowth colony forming units | A monocyte early outgrowth colony forming unit measurement is the result of a cell culture assay in which monocytes are plated on fibronectin plates and morphology and growth assessed in an assay which correlates circulating cells and vascular function. The output of the assay is a measure of how many colonies were formed, at what point and their morphology. |
| Morphine dose requirement in tonsillectomy and adenoidectomy surgery | |
| Mortality in heart failure | |
| MRI atrophy measures | |
| Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma) | |
| Multiple myeloma | A myeloma that is located_in the plasma cells in bone marrow. |
| Multiple myeloma (hyperdiploidy) | |
| Multiple myeloma (IgH translocation) | |
| 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. |
| Multiple sclerosis (age of onset) | disease cluster belonging to disease group immune |
| Multiple sclerosis (OCB status) | |
| Multiple sclerosis (severity) | disease cluster belonging to disease group immune |
| Multiple sclerosis or amyotrophic lateral sclerosis | |
| Multiple sclerosis--Brain Glutamate Levels | |
| Musician's dystonia | |
| Myasthenia gravis | OMIM mapping confirmed by DO. [SN]. |
| Myeloproliferative neoplasms | disease cluster belonging to disease group cancer |
| Myocardial infarction | Xref MGI. |
| Myocardial infarction (early onset) | disease cluster belonging to disease group cardiovascular |
| Myopia (pathological) | disease cluster belonging to disease group vision |
| Myopia (severe) | |
| N-glycan levels | |
| Narcolepsy | A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. |
| Narcolepsy (age of onset) | |
| Narcolepsy with cataplexy | |
| Nasopharyngeal carcinoma | A pharynx cancer that is located_in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. |
| Neonatal lupus | |
| Nephrolithiasis | OMIM mapping confirmed by DO. [SN]. |
| Nephropathy | A urinary system disease that is located_in the kidney. |
| Nephropathy (idiopathic membranous) | |
| Nephrotic syndrome (acquired) | |
| Neuroblastoma | An autonomic nervous system neoplasm that derives_from immature nerve cells. |
| Neuroblastoma (high-risk) | disease cluster belonging to disease group cancer |
| Neuroticism | disease cluster belonging to disease group psych |
| Neutrophil count | Is a quantification of neutrophils in blood. |
| Nevirapine-induced rash | |
| Nicotine dependence | |
| Nicotine use | |
| Non-albumin protein levels | |
| Non-alcoholic fatty liver disease | A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. |
| Non-alcoholic fatty liver disease histology (lobular) | |
| Non-alcoholic fatty liver disease histology (other) | |
| Non-melanoma skin cancer | A skin cancer that is located_in tissues of the skin and develops from epithelial cells. |
| Non-obstructive azoospermia | Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. Can be differentiated from obstructive azoospermia on the basis of testicular biopsy. |
| Non-small cell lung cancer | |
| Non-small cell lung cancer (survival) | |
| Non-substance related behavioral disinhibition | |
| Non-word repetition | non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words |
| Nonalcoholic fatty liver disease | A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use. |
| Normalized brain volume | |
| Obesity | OMIM mapping confirmed by DO. [SN]. |
| Obesity (early onset extreme) | disease cluster belonging to disease group metabolic |
| Obesity (extreme) | disease cluster belonging to disease group metabolic |
| Obesity and blood pressure | |
| Obesity and osteoporosis | disease cluster belonging to disease group metabolic |
| Obesity-related traits | disease cluster belonging to disease group metabolic |
| Odorant perception (β-ionone) | |
| Odorant perception (isobutyraldehyde) | |
| Oleic acid (18:1n-9) plasma levels | |
| Opioid sensitivity | |
| Optic disc parameters | |
| Optic nerve measurement (cup area) | |
| Optic nerve measurement (cup-to-disc ratio) | |
| Optic nerve measurement (disc area) | |
| Optic nerve measurement (rim area) | |
| Orofacial clefts | disease cluster belonging to disease group developmental |
| Orofacial clefts (interaction) | |
| Orthostatic hypotension | A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. |
| Osteoarthritis | An arthritis that has_material_basis_in worn out cartilage located_in joint. |
| Osteoarthritis (hip) | |
| Osteonecrosis of the jaw | |
| 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. |
| Osteoporosis-related phenotypes | disease cluster belonging to disease group metabolic |
| Osteosarcoma | A bone cancer that is located_in bone that has_material_basis_in cells of mesenchymal origin. |
| Other erythrocyte phenotypes | disease cluster belonging to disease group hematological |
| Otosclerosis | A labyrinthine disease characterized by an abnormal bone growth in the middle ear. |
| Ovarian cancer | A female reproductive organ cancer that is located_in the ovary. |
| Ovarian cancer in BRCA1 mutation carriers | |
| Ovarian reserve | Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones. |
| P wave duration | measurement of the time from start to finish of the P wave, in the electrocardiograph illustrating the initial deflection of the cardiac cycle, representing the excitation of the atria. |
| Paclitaxel-induced neuropathy | |
| Paget's disease | |
| Pain | An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. |
| Palmitic acid (16:0) plasma levels | |
| Palmitoleic acid (16:1n-7) plasma levels | |
| Pancreatic cancer | An endocrine gland cancer located_in the pancreas. |
| Pancreatitis | |
| 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. |
| Paraoxonase activity | disease cluster belonging to disease group normalvariation |
| Parasitemia in Tripanosoma cruzi seropositivity | |
| Parent of origin effect on language impairment (paternal) | |
| Parkinson's disease | A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. |
| Parkinson's disease (age of onset) | disease cluster belonging to disease group neurological |
| Parkinson's disease (familial) | disease cluster belonging to disease group neurological |
| Parkinson's disease (motor and cognition) | |
| Partial epilepsies | |
| PCA3 expression level | |
| Periodontal disease-related phenotypes | |
| Periodontal microbiota | |
| Periodontitis | |
| Periodontitis (CDC/AAP) | |
| Periodontitis (DPAL) | |
| Periodontitis (Mean PAL) | |
| Periodontitis (PAL4Q3) | |
| Peripheral artery disease | An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. |
| Permanent tooth development | |
| Personality dimensions | The characteristics in behavior that a certain person has. |
| Phospholipid levels (plasma) | |
| Phosphorus levels | |
| Phytosterol levels | |
| Pit-and-Fissure caries | |
| Plasma amyloid beta peptide concentrations (ABx-40) | |
| Plasma amyloid beta peptide concentrations (ABx-42) | |
| Plasma homocysteine levels (post-methionine load test) | |
| Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) | |
| Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) | |
| Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) | |
| Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) | |
| Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) | |
| Plasma plasminogen activator levels | |
| Plasma thyroid-stimulating hormone levels | |
| Plasminogen activator inhibitor type 1 levels (PAI-1) | |
| Platelet aggregation | disease cluster belonging to disease group hematological |
| Platelet counts | |
| Political ideology | |
| Polycystic ovary syndrome | OMIM mapping confirmed by DO. [SN]. |
| Post-traumatic stress disorder | An anxiety disorder which results from a traumatic experience that results in psychological trauma. |
| Post-traumatic stress disorder (asjusted for relatedness) | |
| PR interval | A PR interval is an electrocardiography measurement which measures from the beginning of the P wave to the beginning of the QRS complex in the heart's electrical cycle |
| PR interval in Tripanosoma cruzi seropositivity | |
| PR segment | measurement of the interval from the offset of the P wave to the onset of the QRS wave complex |
| Preeclampsia | A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. |
| Preschool internalizing problems | |
| Presence of antiphospholipid antibodies | |
| Primary biliary cirrhosis | A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. |
| Primary sclerosing cholangitis | |
| Primary tooth development (number of teeth) | |
| Primary tooth development (time to first tooth eruption) | |
| Prion diseases | |
| Progranulin levels | A progranulin measurement is a quantification of progranulin, typically in blood. Progranulins are secreted glycosylated peptides implicated in frontotemporal disease, and low levels of progranulin are a risk factor for frontotemporal disease |
| Progressive supranuclear palsy | A movement disease characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. |
| Proinsulin levels | |
| Prostate cancer | A male reproductive organ cancer that is located_in the prostate. |
| Prostate cancer (early onset) | |
| Prostate cancer (gene x gene interaction) | |
| Prostate-specific antigen levels | A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer. |
| Protein biomarker | |
| Protein C levels | |
| Protein quantitative trait loci | disease cluster belonging to disease group other |
| Prothrombin time | |
| Psoriasis | A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). |
| Psoriatic arthritis | A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis. |
| Psychosis (atypical) | |
| Psychosis (methamphetamine induced) | |
| Pubertal anthropometrics | |
| Puberty onset | disease cluster belonging to disease group developmental |
| Puberty onset (breast development) | |
| Puberty onset (genital enlargement) | |
| Pulmonary function | |
| Pulmonary function (interaction) | |
| Pulmonary function decline | |
| QRS duration | QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle |
| QRS duration in Tripanosoma cruzi seropositivity | |
| QT interval | The QT interval is a measure of the time between the start of the Q wave and the end of the T wave in the heart's electrical cycle |
| QT interval (interaction) | |
| QT interval in Tripanosoma cruzi seropositivity | |
| Quantitative traits | disease cluster belonging to disease group other |
| Radiation response | |
| Reading and spelling | |
| Recombination rate (females) | disease cluster belonging to disease group other |
| Recombination rate (males) | disease cluster belonging to disease group other |
| Red blood cell count | The number of red blood cells per unit volume in a sample of venous blood. |
| Red blood cell traits | |
| Red vs non-red hair color | disease cluster belonging to disease group developmental |
| Refractive error | |
| Relative hand skill in reading disability | |
| Renal cell carcinoma | A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. |
| Renal function and chronic kidney disease | disease cluster belonging to disease group renal |
| Renal function-related traits (BUN) | |
| Renal function-related traits (eGRFcrea) | |
| Renal function-related traits (sCR) | |
| Renal function-related traits (urea) | |
| Renal sinus fat | |
| Renal transplant outcome | disease cluster belonging to disease group renal |
| Resistin levels | Is a quantification of resistin, a cytokine secreted by immune and epithelial cells in human and associated with obseity and type II diabetes by some studies |
| Response to acetaminophen (hepatotoxicity) | |
| Response to alcohol consumption (flushing response) | |
| Response to amphetamines | |
| Response to angiotensin II receptor blocker therapy | |
| Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy) | |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy) | |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy) | |
| Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy) | |
| Response to anti-TNF alpha therapy in inflammatory bowel disease | |
| Response to anti-TNF treatment in rheumatoid arthritis | |
| Response to antidepressant treatment | |
| Response to antidepressant treatment (citalopram) | |
| Response to antidepressants | disease cluster belonging to disease group psych |
| Response to antineoplastic agents | |
| Response to antipsychotic therapy (extrapyramidal side effects) | disease cluster belonging to disease group pharmacogenomic |
| Response to antipsychotic treatment | disease cluster belonging to disease group pharmacogenomic |
| Response to antipsychotic treatment in schizophrenia (reasoning) | |
| Response to antipsychotic treatment in schizophrenia (working memory) | |
| Response to cerivastatin | |
| Response to cholinesterase inhibitors in Alzheimer's disease | |
| Response to citalopram treatment | disease cluster belonging to disease group pharmacogenomic |
| Response to cytadine analogues (cytosine arabinoside) | |
| Response to cytidine analogues (gemcitabine) | |
| Response to dabigatran etexilate treatment | |
| Response to diuretic therapy in hypertension | |
| Response to fenofibrate | |
| Response to fenofibrate (adiponectin levels) | |
| Response to gemcitabine in pancreatic cancer | |
| Response to haloperidol in psychosis | |
| Response to hepatitis C treatment | disease cluster belonging to disease group pharmacogenomic |
| Response to iloperidone treatment (QT prolongation) | disease cluster belonging to disease group pharmacogenomic |
| Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1) | |
| Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer | |
| Response to irinotecan in non-small-cell lung cancer | |
| Response to metformin | |
| Response to metformin in type 2 diabetes (glycemic) | |
| Response to methotrexate in juvenile idiopathic arthritis | |
| Response to methotrexate in rheumatoid arthritis | |
| Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure) | |
| Response to mTOR inhibitor (everolimus) | |
| Response to mTOR inhibitor (rapamycin) | |
| Response to platinum-based chemotherapy in non-small-cell lung cancer | |
| Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels) | |
| Response to radiotherapy in cancer (late toxicity) | |
| Response to radiotherapy in prostate cancer (toxicity) | |
| Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels) | |
| Response to statin therapy | disease cluster belonging to disease group pharmacogenomic |
| Response to statin therapy (LDL-C) | |
| Response to tamoxifen in breast cancer | |
| Response to taxane treatment (docetaxel) | |
| Response to taxane treatment (placlitaxel) | |
| Response to temozolomide | |
| Response to TNF antagonist treatment | disease cluster belonging to disease group pharmacogenomic |
| Response to TNF-alpha inhibitors in rheumatoid arthritis | |
| Response to tocilizumab in rheumatoid arthritis | |
| Response to treatment for acute lymphoblastic leukemia | disease cluster belonging to disease group pharmacogenomic |
| Response to Vitamin E supplementation | |
| Resting heart rate | |
| 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 vascular caliber | |
| Retinol levels | |
| Retinopathy in non-diabetics | |
| Rhegmatogenous retinal detachment | A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. |
| Rheumatoid arthritis | An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. |
| Rheumatoid arthritis (ACPA-negative) | |
| Ribavirin-induced anemia | |
| RR interval (heart rate) | disease cluster belonging to disease group cardiovascular |
| Sagittal craniosynostosis | A kind of craniosynostosis affecting the sagittal suture. |
| Sarcoidosis | A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. |
| Schizophrenia | A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. |
| Schizophrenia (cytomegalovirus infection interaction) | |
| Schizophrenia (negative symptoms) | |
| Schizophrenia (treatment refractory) | |
| Schizophrenia or bipolar disorder | |
| Schizophrenia, bipolar disorder and depression (combined) | |
| Schizophrenia, schizoaffective disorder or bipolar disorder | |
| Sclerosing cholangitis and ulcerative colitis (combined) | |
| Scoliosis | A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. |
| Select biomarker traits | disease cluster belonging to disease group other |
| Self-employment | |
| Self-rated health | The process of questioning an individual, usually by means of a survey to determine general health. |
| Self-reported allergy | |
| Sensory disturbances after bilateral sagittal split ramus osteotomy | |
| Serum albumin level | |
| Serum alkaline phosphatase levels | |
| Serum ceruloplasmin levels | Quantification of some ceruloplasmin in the blood |
| Serum dimethylarginine levels (asymmetric) | |
| Serum dimethylarginine levels (asymmetric/symetric ratio) | |
| Serum dimethylarginine levels (symmetric) | |
| Serum IgA levels | |
| Serum metabolite levels | |
| Serum prostate-specific antigen levels | |
| Serum protein levels (sST2) | |
| Serum selenium levels | |
| Serum tamsulosin hydrochloride concentration | |
| Serum thyroid-stimulating hormone levels | |
| Serum total protein level | |
| Serum uric acid levels | |
| Serum vitamin D-binding protein levels | |
| Sex hormone-binding globulin levels | |
| Sexual dimorphism in anthropometric traits | |
| Sexual dysfunction (female) | |
| Sexual dysfunction (SSRI/SNRI-related) | |
| Sickle cell anemia (haemolysis) | |
| Sjögren's syndrome | |
| Skin pigmentation | Coloration of the skin. |
| Skin sensitivity to sun | The response of human skin to sun exposure. |
| Sleep depth | self-reported assessment of how difficult an individual is to wake |
| Sleep duration | duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab |
| Sleep quality | self-reported quality of sleeping |
| Sleep time | measurement of the time at which sleep begins |
| Sleep-related phenotypes | |
| Smoking behavior | Inhaling and exhaling the smoke of tobacco or something similar to tobacco. |
| Smoking cessation | Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke. |
| Smoking initiation | initation of the habit of smoking, the inhaling and exhaling of tobacco smoke. |
| Smoking quantity | |
| Smooth-surface caries | |
| Social autistic-like traits | |
| Social communication problems | |
| Soluble ICAM-1 | disease cluster belonging to disease group hematological |
| Soluble leptin receptor levels | is a quantification of circulating soluble leptin receptor levels, these are inversely associated with diabetes risk factors, including adiposity and insulin resistance, and highly correlated with the expression levels of leptin receptor. |
| Soluble levels of adhesion molecules | disease cluster belonging to disease group hematological |
| Sphingolipid levels | |
| Spine bone size | Spine bone size is a measurement of the dimensions of the spine. |
| Staphylococcus aureus infection | Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria. |
| Stearic acid (18:0) plasma levels | |
| Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN) | |
| Stroke | An artery disease that is characterized by dysfunction of the blood vessels supplying the brain. |
| Stroke (ischemic) | disease cluster belonging to disease group cardiovascular |
| Stroke (pediatric) | |
| Subclinical atherosclerosis traits (other) | disease cluster belonging to disease group cardiovascular |
| Subcutaneous adipose tissue | Is a quantification of a particular location of adipose tissue. |
| Substance dependence | A substance-related disorder that involves the continued use of alcohol or other drugs despite despite problems related to use of the substance. |
| Sudden cardiac arrest | |
| 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. |
| Suicidal ideation in depression or bipolar disorder | |
| Suicide attempts in bipolar disorder | |
| Suicide attempts in depression or bipolar disorder | |
| Suicide risk | |
| Sunburns | An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight. |
| Systemic lupus erythematosus | 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. |
| Systemic lupus erythematosus and Systemic sclerosis | |
| Systemic sclerosis | A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. |
| Systolic blood pressure | PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS. |
| Systolic blood pressure (alcohol consumption interaction) | |
| Systolic blood pressure in sickle cell anemia | |
| Tanning | disease cluster belonging to disease group other |
| Tardive dyskinesia | the involuntary movements are tardive, meaning they have a slow or belated onset |
| Telomere length | A measurement of telomere length measures the number of TTAGGG repeats at the end of the chromosome. As cell division proceeds telomeres shorten, telomere length is measure of cellular aging. |
| Temperament | |
| Temperament (bipolar disorder) | |
| Temporomandibular joint disorders | |
| Testicular cancer | A male reproductive system cancer that is located_in the testicles. |
| Testicular germ cell cancer | A testicular cancer that has_material_basis_in germ cells. |
| Testicular germ cell tumor | |
| Testosterone levels | is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone. |
| Tetralogy of Fallot | OMIM mapping confirmed by DO. [LS]. |
| Thiazide-induced adverse metabolic effects in hypertensive patients | |
| Thoracic aortic aneurysms and dissections | |
| Thrombin generation potential phenotypes | |
| Thyroid cancer | An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage. |
| Thyroid function | Physiological activity and functions of the highly vascular thyroid gland, such as producing the thyroid hormones which are concerned in regulating the metabolic rate of the body. |
| Thyroid hormone levels | |
| Thyroid peroxidase antibody levels | |
| Thyroid peroxidase antibody positivity | |
| Thyroid stimulating hormone | disease cluster belonging to disease group metabolic |
| Thyroid volume | Is a quantification of the volume of the thyroid. |
| Tonometry | disease cluster belonging to disease group other |
| Tooth agenesis (third molar) | |
| Total ventricular volume | |
| Tourette syndrome | A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. |
| Treatment response for severe sepsis | |
| Triglycerides | disease cluster belonging to disease group metabolic |
| Triglycerides-Blood Pressure (TG-BP) | |
| 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 biomarkers | |
| Two-hour glucose challenge | disease cluster belonging to disease group metabolic |
| Type 1 diabetes | disease cluster belonging to disease group immune |
| Type 1 diabetes autoantibodies | |
| Type 1 diabetes nephropathy | Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 1 diabetes hyperglycaemia starts in the first decades of life and is usually the only recognized cause of nephropathy. |
| Type 2 diabetes | disease cluster belonging to disease group metabolic |
| Type 2 diabetes (dietary heme iron intake interaction) | |
| Type 2 diabetes and other traits | disease cluster belonging to disease group metabolic |
| Type 2 diabetes nephropathy | Diabetic nephropathy is a progressive kidney disease caused by angiopathy of capillaries in the kidney glomeruli. In type 2 diabetes hyperglycaemia starts after the forties, usually when the kidneys have already suffered the long‐term consequences of ageing and of other recognized promoters of chronic renal injury such as arterial hypertension, obesity, dyslipidaemia, and smoking. |
| Ulcerative colitis | A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. |
| Upper aerodigestive tract cancers | disease cluster belonging to disease group cancer |
| Urate levels | A urate measurement is the quantification of some urate in body fluid |
| Uric acid levels | Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease. |
| Urinary albumin excretion | disease cluster belonging to disease group metabolic |
| Urinary albumin excretion rate in type 1 diabetes | |
| Urinary bladder cancer | An urinary system cancer that results_in malignant growth located_in the urinary bladder. |
| Urinary metabolites | |
| Urinary metabolites (H-NMR features) | |
| Urinary symptoms in response to radiotherapy in prostate cancer | |
| Urinary uromodulin levels | |
| Uterine fibroids | disease cluster belonging to disease group unknown |
| Vascular dementia | A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. |
| Vascular endothelial growth factor levels | |
| Venous thromboembolism | Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream. |
| Venous thromboembolism (gene x gene interaction) | |
| Vertical cup-disc ratio | |
| Visceral adipose tissue adjusted for BMI | |
| Visceral adipose tissue/subcutaneous adipose tissue ratio | |
| Visceral fat | |
| Vitamin B12 levels | is a quantification of Vitamin B12, vitamin B12 or vitamin B-12, is a water-solublevitamin with a key role in the normal functioning of the brain and nervous system, and for the formation of blood. It is one of the eight B vitamins. It is normally involved in themetabolism of every cell of the human body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. It is the largest and most structurally complicated vitamin and can be produced industrially only through bacterial fermentation-synthesis. |
| Vitamin D insufficiency | |
| Vitamin D levels | |
| Vitamin E levels | |
| Vitiligo | A hypersensitivity reaction type II disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. |
| Vitiligo (non-segmental) | |
| Volumetric brain MRI | Is a quantification of brain volume using magnetic resonance imaging. |
| vWF and FVIII levels | |
| 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 Circumference - Triglycerides (WC-TG) | |
| Waist circumference and related phenotypes | disease cluster belonging to disease group metabolic |
| 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) |
| Waist-to-hip circumference ratio (interaction) | |
| Warfarin maintenance dose | disease cluster belonging to disease group pharmacogenomic |
| Wegener's granulomatosis | An autoimmune disease that is a vasculitis that is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. |
| Weight | The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. |
| Weight loss (gastric bypass surgery) | |
| White blood cell 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. |
| White blood cell types | |
| White matter hyperintensity burden | |
| White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy | |
| White matter integrity | White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function. |
| White matter integrity (interaction) | |
| White matter microstructure (global fractional anisotropy) | |
| Wilms tumor | |
| Word reading | word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words |
| YKL-40 levels | Is a quantification of the secreted glycoprotein YKL-40 (Chitinase-3-like protein 1) YKL-40 has been associated with asthma, inflammatory disease and cancer progression. |
