GWAS Catalog SNP-Phenotype Associations Dataset (Archived)

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
Stats
  1. 4356 genes
  2. 1007 phenotypes
  3. 8253 gene-phenotype associations

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phenotype Gene Sets

1007 sets of genes associated with phenotypes in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.

Gene Set Description
Fractional exhaled nitric oxide (childhood)
Sex hormone-binding globulin levels
Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)
HDL cholesterol disease cluster belonging to disease group metabolic
Neonatal lupus
Airflow obstruction
Response to irinotecan in non-small-cell lung cancer
Blood pressure measurement (high sodium intervention)
Cystic fibrosis severity
Type 1 diabetes disease cluster belonging to disease group immune
Asparaginase hypersensitivity in acute lymphoblastic leukemia
Lobular breast cancer (menopausal hormone therapy interaction)
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.
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
Diastolic blood pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
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.
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)
Skin sensitivity to sun The response of human skin to sun exposure.
Partial epilepsies
Homeostasis model assessment of beta-cell function (interaction)
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.
Red vs non-red hair color disease cluster belonging to disease group developmental
Asperger disorder
Triglycerides-Blood Pressure (TG-BP)
Brain structure (temporal lobe volume)
Crohn's disease and celiac disease
Parkinson's disease (familial) disease cluster belonging to disease group neurological
Creutzfeldt-Jakob disease (variant)
Soluble levels of adhesion molecules disease cluster belonging to disease group hematological
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.
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
Asthma (toluene diisocyanate-induced) disease cluster belonging to disease group immune
Life threatening arrhythmia
Liver enzyme levels (gamma-glutamyl transferase)
HIV-1 viral setpoint
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.
Fat distribution (HIV)
Alcoholism (alcohol dependence factor score)
Heart rate variability traits disease cluster belonging to disease group cardiovascular
Nonalcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
Blue vs. brown eyes disease cluster belonging to disease group other
Metabolite levels (Pyroglutamine)
Hormone measurements
Alcoholism (12-month weekly alcohol consumption)
Breast cancer (menopausal hormone therapy interaction)
Age-related macular degeneration (CNV vs. GA)
Metabolite levels (HVA/5-HIAA ratio)
Antipsychotic-induced QTc interval prolongation
Congenital heart malformation any structural anomly of the heart that is present from birth
Thyroid hormone levels
Idiopathic pulmonary fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause.
Social autistic-like traits
Reading and spelling
Plasminogen activator inhibitor type 1 levels (PAI-1)
Neuroblastoma (high-risk) disease cluster belonging to disease group cancer
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.
Immune response to smallpox vaccine (IL-6)
Bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode.
Serum IgA levels
Word reading word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words
Asthma and hay fever
Parkinson's disease (motor and cognition)
Visceral adipose tissue adjusted for BMI
Eye color traits
Erectile dysfunction and prostate cancer treatment
Mammographic density disease cluster belonging to disease group other
Age-related macular degeneration (GA)
Parasitemia in Tripanosoma cruzi seropositivity
Alzheimer's disease A dementia that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age 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.|A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that 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.
Clubfoot OMIM mapping confirmed by DO. [SN].
Chronic hepatitis C infection disease cluster belonging to disease group infection
Serum thyroid-stimulating hormone levels
LDL (oxidized)
Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture.
Stearic acid (18:0) plasma levels
Cannabis dependence A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
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.
Ovarian cancer in BRCA1 mutation carriers
Non-small cell lung cancer (survival)
Glycemic traits
Serum dimethylarginine levels (asymmetric/symetric ratio)
Immune reponse to smallpox (secreted IFN-alpha)
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.
Amyotrophic lateral sclerosis (age of onset)
Blood pressure measurement (cold pressor test)
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.
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
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.
Response to antipsychotic treatment in schizophrenia (working memory)
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.
Ischemic stroke
Immune reponse to smallpox (secreted TNF-alpha)
Hip bone size Is a quantification of the size of a human hip bone.
Multiple sclerosis--Brain Glutamate Levels
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
Insulin resistance/response
Age-related macular degeneration (CNV)
Male-pattern baldness disease cluster belonging to disease group other
Allergic dermatitis (nickel)
Aging (time to event)
Lung cancer-asbestos exposure interaction
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
Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
Relative hand skill in reading disability
Exercise treadmill test traits disease cluster belonging to disease group other
Response to mTOR inhibitor (rapamycin)
Complement C3 and C4 levels
Eating disorders (purging via substances)
Crohn's disease (need for surgery)
Iron deficiency
Pancreatic cancer An endocrine gland cancer located_in the pancreas.
Myocardial infarction Xref MGI.
Lipoprotein-associated phospholipase A2 activity change in response to statin therapy
Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)
Body mass (lean) disease cluster belonging to disease group metabolic
Brain structure (hippocampal volume)
Lung function (forced expiratory volume in 1 second)
Rheumatoid arthritis (ACPA-negative)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)
Bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
Thyroid stimulating hormone disease cluster belonging to disease group metabolic
Forced vital capacity The volume of air that is exhaled by a maximal expiration following a maximal inspiration.
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.
Opioid sensitivity
Alzheimer's disease (late onset) disease cluster belonging to disease group neurological
Depression and alcohol dependence
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.
IgE levels in asthmatics
Multiple myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)|A myeloma that is located_in the plasma cells in bone marrow.|A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.
Cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine.
Sleep time measurement of the time at which sleep begins
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.
Circulating myeloperoxidase levels (plasma)
Barrett's esophagus Metaplasia of the lower esophagus that is characterized by replacement of squamous epithelium with columnar epithelium, occurs especially as a result of chronic gastroesophageal reflux, and is associated with an increased risk for esophageal carcinoma.
Cervical cancer A female reproductive organ cancer that is located_in the cervix.
MRI atrophy measures
Urinary albumin excretion disease cluster belonging to disease group metabolic
Rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Beta-2 microglubulin plasma levels
Serum total protein level
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)
Abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta.
Age-related macular degeneration (wet) disease cluster belonging to disease group vision
Gastric cancer disease cluster belonging to disease group cancer
Non-alcoholic fatty liver disease histology (other)
Anxiety and major depressive disorder
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).
Coffee consumption Behaviors associated with the ingesting of coffee
Schizophrenia, schizoaffective disorder or bipolar disorder
Nevirapine-induced rash
Serum protein levels (sST2)
Bone mineral density (paediatric, upper limb)
Systemic lupus erythematosus and Systemic sclerosis
Uterine fibroids disease cluster belonging to disease group unknown
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)
Digit length ratio Is the ratio of 2D:4D used a a marker for prenatal androgen exposure.
Crohn's disease An intestinal disease that involves inflammation located_in intestine.
Prostate cancer (early onset)
Testosterone levels is a quantification of testosterone, typically in serum. Testosterone is a steroid hormone.
Electroencephalographic traits in alcoholism
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
Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Suicide risk
Subcutaneous adipose tissue Adipose tissue which is found underneath the skin.
Alcoholism (alcohol use disorder factor score)
Handedness in dyslexia
Epilepsy (generalized)
Paget's disease
Non-alcoholic fatty liver disease histology (lobular)
Self-employment
Diastolic blood pressure (alcohol consumption interaction)
Periodontitis (CDC/AAP)
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.
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.
Prothrombin time
Tooth agenesis (third molar)
Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)
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.
Keloid A tough heaped-up scar that rises quite abruptly above the rest of the skin. It is irregularly shaped and tends to enlarge progressively. Keloids arise when there is too much collagen formed in the dermis during the repair of connective tissue.
Mean corpuscular volume A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.
Diabetic retinopathy Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION.
Preschool internalizing problems
Hypersomnia (HLA-DQB1*06:02 negative)
Intracranial aneurysm
Periodontitis Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)
Periodontal disease-related phenotypes
Multiple sclerosis or amyotrophic lateral sclerosis
Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)
Glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
Drug-induced liver injury (amoxicillin-clavulanate)
Response to inhaled corticosteroid treatment in asthma (percentage change of FEV1)
Platelet counts
QT interval (interaction)
Circulating vasoactive peptide levels
Sleep depth self-reported assessment of how difficult an individual is to wake
Sleep quality self-reported quality of sleeping
Pulmonary function
Menarche and menopause (age at onset) disease cluster belonging to disease group reproduction
Corneal curvature
Scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Molar-incisor hypomineralization a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)
Renal function-related traits (urea)
Presence of antiphospholipid antibodies
Hemostatic factors and hematological phenotypes disease cluster belonging to disease group hematological
Behavioural disinhibition (generation interaction)
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.
Orthostatic hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Caffeine consumption Behaviors associated with the ingesting of coffee
Economic and political preferences
Non-small cell lung cancer
Cataracts in type 2 diabetes
Job-related exhaustion
Biochemical measures disease cluster belonging to disease group other
Liver enzyme levels A quantification of liver enzymes, typically in blood, used by clinicians to determine liver injury, disease and function.
Nicotine dependence
Plasma thyroid-stimulating hormone levels
Type 2 diabetes disease cluster belonging to disease group metabolic
Dehydroepiandrosterone sulphate levels
Comprehensive strength and appendicular lean mass
Response to Vitamin E supplementation
Refractive error
Psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
Dental caries Localized destruction of the tooth surface initiated by decalcification of the enamel followed by enzymatic lysis of organic structures and leading to cavity formation. If left unchecked, the cavity may penetrate the enamel and dentin and reach the pulp. The three most prominent theories used to explain the etiology of the disease are that acids produced by bacteria lead to decalcification; that micro-organisms destroy the enamel protein; or that keratolytic micro-organisms produce chelates that lead to decalcification.
Arsenic metabolism disease cluster belonging to disease group pharmacogenomic
Asthma (childhood onset) disease cluster belonging to disease group immune
Biomedical quantitative traits disease cluster belonging to disease group other
Puberty onset (genital enlargement)
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.
Social communication problems
Response to dabigatran etexilate treatment
IgM levels Is a quantification of immunoglobulin M, an antibody produced by B cells.
Political ideology
Prostate cancer A male reproductive organ cancer that is located_in the prostate.
Elevated serum carcinoembryonic antigen levels
Response to cerivastatin
Hemoglobin
Caudate nucleus volume The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders
Lipid metabolism phenotypes
Response to cholinesterase inhibitors in Alzheimer's disease
Sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
Hair color Color of hair or fur.
Schizophrenia (cytomegalovirus infection interaction)
Optic nerve measurement (rim area)
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.
Temperament (bipolar disorder)
Height The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
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.
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
Immune reponse to smallpox (secreted IL-1beta)
Atopic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
Smoking cessation Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Insulin-related traits
Electrocardiographic traits disease cluster belonging to disease group cardiovascular
Antibody status in Tripanosoma cruzi seropositivity
Venous thromboembolism (gene x gene interaction)
Serum uric acid levels
Large B-cell lymphoma
Hepcidin levels A serum hepcidin measurement is a measurement of the peptide hormone hepcidin. Hepcidin is secreted by the liver and regulates iron metabolism.
Otosclerosis Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.
Bipolar disorder (body mass index interaction)
Estradiol plasma levels (breast cancer)
Ewing sarcoma A bone cancer that has_material_basis in neural crest cells derived_from undeveloped, undifferentiated neuroectoderm.
Brain lesion load disease cluster belonging to disease group immune
Economic and political preferences (fairness)
Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)
Response to tocilizumab in rheumatoid arthritis
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
Mortality in heart failure
Alcohol consumption Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
HIV-1 progression
Nephropathy A disease affecting the kidneys
Cognitive decline (age-related)
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.
Alcohol dependence (age at onset)
Lung Cancer (DNA repair capacity)
Non-albumin protein levels
Tardive dyskinesia the involuntary movements are tardive, meaning they have a slow or belated onset
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)
Obesity (early onset extreme) disease cluster belonging to disease group metabolic
Body mass index (education interaction)
Serum alkaline phosphatase levels
Response to taxane treatment (placlitaxel)
Optic nerve measurement (cup area)
Response to diuretic therapy in hypertension
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.
Migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
Morphine dose requirement in tonsillectomy and adenoidectomy surgery
Immune reponse to smallpox (secreted IL-12p40)
Leprosy A chronic granulomatous infection caused by MYCOBACTERIUM LEPRAE. The granulomatous lesions are manifested in the skin, the mucous membranes, and the peripheral nerves. Two polar or principal types are lepromatous and tuberculoid.
Cholesterol
Lung adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.
Obesity An eating-related disorder in which excess body fat has accumulated to such an extent that health may be negatively affected. It is commonly defined as a body mass index (weight divided by height squared) of 30 kg/m2 or higher.|A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
Response to methotrexate in rheumatoid arthritis
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.
Urinary symptoms in response to radiotherapy in prostate cancer
Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)
Temporomandibular joint disorders
Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels)
Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)
Ovarian cancer A female reproductive organ cancer that is located_in the ovary.
Nephrolithiasis Formation of stones in the KIDNEY.
Inflammatory biomarkers
Orofacial clefts (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.
Conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Left ventricular mass disease cluster belonging to disease group cardiovascular
Lung cancer (smoking interaction)
Intracranial volume Is a quantification of intracranial volume.
White blood cell types
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.
Wilms tumor
Optic nerve measurement (disc area)
IgA nephropathy A chronic form of glomerulonephritis characterized by deposits of predominantly immunoglobulin A in the mesangial area (glomerular mesangium). Deposits of complement C3 and immunoglobulin G are also often found. Clinical features may progress from asymptomatic hematuria to end-stage kidney disease.
Metabolite levels (HVA)
Magnesium levels
Red blood cell traits
Hepatitis B vaccine response
Protein quantitative trait loci disease cluster belonging to disease group other
AIDS progression disease cluster belonging to disease group infection
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.
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
Thrombin generation potential phenotypes
Systolic blood pressure in sickle cell anemia
Hepatocellular carcinoma A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.|Tumors or cancer of the LIVER.|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002|A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.
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.
Fuchs's corneal dystrophy
Eating disorders
Serum ceruloplasmin levels Quantification of some ceruloplasmin in the blood
Malaria A protozoan disease caused in humans by four species of the PLASMODIUM genus: PLASMODIUM FALCIPARUM; PLASMODIUM VIVAX; PLASMODIUM OVALE; and PLASMODIUM MALARIAE; and transmitted by the bite of an infected female mosquito of the genus ANOPHELES. Malaria is endemic in parts of Asia, Africa, Central and South America, Oceania, and certain Caribbean islands. It is characterized by extreme exhaustion associated with paroxysms of high FEVER; SWEATING; shaking CHILLS; and ANEMIA. Malaria in ANIMALS is caused by other species of plasmodia.|Malaria is a parasitic disease characterized as a vector-borne arthropod infectious acute or chronic disease caused by the presence of sporozoan 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. Occurrance is widespread in tropical and subtropical regions, including parts of the Americas, Asia, and Africa.|A protozoan infection caused by the genus Plasmodium. There are four species of Plasmodium that can infect humans: Plasmodium falciparum, vivax, ovale, and malariae. It is transmitted to humans by infected mosquitoes. Signs and symptoms include paroxysmal high fever, sweating, chills, and anemia.|An Aconoidasida 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.
Dupuytren's disease disease cluster belonging to disease group other
Urinary metabolites
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.
Retinal vascular caliber
Colorectal cancer A large intestine cancer that is located in the colon and/or located in the rectum.
Paclitaxel-induced neuropathy
Subclinical atherosclerosis traits (other) disease cluster belonging to disease group cardiovascular
Epirubicin-induced leukopenia
Knee osteoarthritis
Bone mineral density (hip) disease cluster belonging to disease group metabolic
Tanning
Echocardiographic traits disease cluster belonging to disease group cardiovascular
Treatment response for severe sepsis
Primary tooth development (number of teeth)
Ileal carcinoids
Coagulation factor levels
Sleep-related phenotypes
Esophageal cancer and gastric cancer
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)
Bone mineral density (paediatric, total body less head)
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)
Blood pressure measurement (high sodium and potassium intervention)
Anger
Gamma glutamyl transpeptidase
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.
Hippocampal sclerosis of aging age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus
Response to fenofibrate (adiponectin levels)
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
Endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
Hyperactive-impulsive symptoms disease cluster belonging to disease group psych
Bipolar disorder and schizophrenia
Hematological parameters disease cluster belonging to disease group hematological
Male infertility
Blood metabolite levels
Musician's dystonia
Schizophrenia (treatment refractory)
Renal cell carcinoma A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.|A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma.
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)
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.
Neuroticism disease cluster belonging to disease group psych
Serum selenium levels
Non-substance related behavioral disinhibition
Glioma (high-grade) disease cluster belonging to disease group cancer
Arthritis (juvenile idiopathic) disease cluster belonging to disease group immune
Thoracic aortic aneurysms and dissections
Cognitive decline Loss of previously present mental abilities, generally in adults.
Select biomarker traits disease cluster belonging to disease group other
Crohn's disease (time to surgery)
Venous thromboembolism Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.
Plasma amyloid beta peptide concentrations (ABx-42)
Functional impairment in major depressive disorder, bipolar disorder and schizophrenia
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.
Phosphorus levels
Irritable bowel syndrome A disorder with chronic or recurrent colonic symptoms without a clearcut etiology. This condition is characterized by chronic or recurrent ABDOMINAL PAIN, bloating, MUCUS in FECES, and an erratic disturbance of DEFECATION.|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.
Attention deficit hyperactivity disorder symptoms (interaction) disease cluster belonging to disease group psych
Normalized brain volume
Cutaneous nevi disease cluster belonging to disease group other
Multiple myeloma (IgH translocation)
Menopause (age at onset) disease cluster belonging to disease group reproduction
Vitamin E levels
Response to cytadine analogues (cytosine arabinoside)
Age-related nuclear cataracts
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.
Eosinophil counts
Aortic-valve calcification Deposition of calcium salts in the aortic valve.
Immunoglobulin A disease cluster belonging to disease group immune
Upper aerodigestive tract cancers disease cluster belonging to disease group cancer
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.
Odorant perception (β-ionone)
Osteonecrosis of the jaw
Amyloid A serum levels
Lentiform nucleus volume Is a quantification of the lentiform nucleus (or lenticular nucleus) volume, typically by MRI.
Bitter taste perception
Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)
Asthma or chronic obstructive pulmonary disease
Osteoarthritis A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans.
Amyotrophic lateral sclerosis (sporadic)
Response to alcohol consumption (flushing response)
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)
IgE grass sensitization
Matrix metalloproteinase levels
Renal function-related traits (eGRFcrea)
Celiac disease A food allergy 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.|A malabsorption syndrome that is precipitated by the ingestion of GLUTEN-containing foods, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.|A food hypersensitivity 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.|A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
QRS duration in Tripanosoma cruzi seropositivity
Blood pressure (age interaction)
Urinary uromodulin levels
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.
Recombination rate (females) disease cluster belonging to disease group other
Metabolite levels (HVA/MHPG ratio)
C-reactive protein and white blood cell count
Proinsulin levels
Metabolite levels (MHPG)
Personality dimensions The characteristics in behavior that a certain person has.
Kidney stones Formation of stones in the KIDNEY.
Response to statin therapy disease cluster belonging to disease group pharmacogenomic
Acne (severe)
Multiple sclerosis (severity) disease cluster belonging to disease group immune
Alcoholism (heaviness of drinking)
Response to amphetamines
Lipid traits
Graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Adverse response to chemotherapy in breast cancer (alopecia)
Large artery stroke stroke caused by the blockage of blood flow in one of the large arteries feeding the brain
Testicular germ cell tumor
Staphylococcus aureus infection Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria.
Response to antidepressants disease cluster belonging to disease group psych
Multiple myeloma (hyperdiploidy)
Weight loss (gastric bypass surgery)
Thyroid peroxidase antibody positivity
Breast cancer (survival) disease cluster belonging to disease group cancer
Testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells.
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.
Response to haloperidol in psychosis
Periodontitis (Mean PAL)
Aging traits disease cluster belonging to disease group aging
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.
Vitiligo (non-segmental)
Protein biomarker
Aging A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death (GO:0016265) and may succeed developmental maturation (GO:0021700).
DNA methylation (variation)
Stroke (pediatric)
Attention deficit hyperactivity disorder (inattention symptoms)
Fat body mass The weight of the individual's body fat.
Diabetes (gestational)
Insomnia (caffeine-induced)
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.
Nephropathy (idiopathic membranous)
Palmitoleic acid (16:1n-7) plasma levels
Contrast sensitivity
Breast cancer A thoracic cancer that originates in the mammary gland.
Meningococcal disease Infections with bacteria of the species NEISSERIA MENINGITIDIS.
Polycystic ovary syndrome A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
White matter integrity (interaction)
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.
Electrocardiographic conduction measures disease cluster belonging to disease group cardiovascular
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.
Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)
Hippocampal volume Measurement of the volume of the hippocampus
Obesity and blood pressure
Prion diseases
Response to gemcitabine in pancreatic cancer
Ejection fraction in Tripanosoma cruzi seropositivity
Renal sinus fat
Multiple sclerosis (OCB status)
Response to antipsychotic therapy (extrapyramidal side effects) disease cluster belonging to disease group pharmacogenomic
Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)
Metabolic traits disease cluster belonging to disease group metabolic
Schizophrenia or bipolar disorder
Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)
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.
Visceral adipose tissue/subcutaneous adipose tissue ratio
Coronary artery disease Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
IgG glycosylation
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.
Schizophrenia (negative symptoms)
Breast size Is a quantification of some aspect of breast size
Alcohol consumption (transferrin glycosylation)
Parkinson's disease A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|A neurodegenerative disease that results_from degeneration of the central nervous system that often impairs the sufferer's motor skills, speech, and other functions.
Sickle cell anemia (haemolysis)
C-reactive protein levels
Schizophrenia, bipolar disorder and depression (combined)
Cortical thickness Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease.
Response to antidepressant treatment
Cerebrospinal T-tau levels
Heart rate The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
Cleft plate (environmental tobacco smoke interaction)
Sexual dysfunction (SSRI/SNRI-related)
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.
Coronary artery disease or ischemic stroke
Fasting insulin (interaction)
Drug-induced torsades de pointes
Congenital heart disease OMIM mapping confirmed by DO. [SN].
Airway hyperresponsiveness one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility
Melanoma A malignant neoplasm derived from cells that are capable of forming melanin, which may occur in the skin of any part of the body, in the eye, or, rarely, in the mucous membranes of the genitalia, anus, oral cavity, or other sites. It occurs mostly in adults and may originate de novo or from a pigmented nevus or malignant lentigo. Melanomas frequently metastasize widely, and the regional lymph nodes, liver, lungs, and brain are likely to be involved. The incidence of malignant skin melanomas is rising rapidly in all parts of the world. (Stedman, 25th ed; from Rook et al., Textbook of Dermatology, 4th ed, p2445)|A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
Iron levels disease cluster belonging to disease group metabolic
Mean platelet volume A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood
Iris color Color of the iris.
Migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
Follicule stimulating hormone
Serum metabolite levels
Chronic mucus hypersecretion
C-reactive protein disease cluster belonging to disease group immune
Adiposity disease cluster belonging to disease group metabolic
Esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
Entorhinal cortical thickness
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.
Bone mineral density (paediatric, skull)
Hepatitis B (viral clearance)
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.
Autoimmune hepatitis type-1
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
Major depressive disorder (broad) disease cluster belonging to disease group psych
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.
Body mass in chronic obstructive pulmonary disease
Response to tamoxifen in breast cancer
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.
Renal transplant outcome disease cluster belonging to disease group renal
Liver enzyme levels (alanine transaminase)
Breast Cancer in BRCA1 mutation carriers
Atrioventricular conduction
Protein C levels
Breast cancer in BRCA2 mutation carriers
Blood trace element (Se levels)
Phospholipid levels (plasma)
Myopia (pathological) disease cluster belonging to disease group vision
Dilated cardiomyopathy An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure
QT interval in Tripanosoma cruzi seropositivity
Inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract.
Psychosis (methamphetamine induced)
Response to anti-TNF alpha therapy in inflammatory bowel disease
Chronic obstructive pulmonary disease (severe)
Metabolic syndrome OMIM mapping confirmed by DO. [SN].
Blood metabolite ratios
Cytomegalovirus antibody response
Freckles Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
Visceral fat
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.
Asthma (corticosteroid response)
Brain imaging in schizophrenia (interaction) disease cluster belonging to disease group psych
Parent of origin effect on language impairment (paternal)
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.
Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)
Hippocampal atrophy Atrophy of the hippocampus as a result of some external stress or disease
Nicotine use
Pulmonary function decline
Body mass index and cholesterol (psychopharmacological treatment)
Thiazide-induced adverse metabolic effects in hypertensive patients
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.
Immune reponse to smallpox (secreted IL-10)
Allergic sensitization
Blood pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
F-cell distribution disease cluster belonging to disease group hematological
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.
Sleep duration duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab
Menarche (age at onset) disease cluster belonging to disease group reproduction
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.
D-dimer levels A D dimer measurement is a quantification of a fibrinogen degradation product in blood used in the diagnosis of thrombosis.
Vitamin D insufficiency
Metabolite levels (X-11787)
Corneal astigmatism
Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Response to metformin in type 2 diabetes (glycemic)
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.
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.
Borderline personality disorder features
Metabolite levels (5-HIAA)
Economic and political preferences (feminism/equality)
Insomnia Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition
Hypertriglyceridemia A condition of elevated levels of TRIGLYCERIDES in the blood.
Vitamin D levels
Serum vitamin D-binding protein levels
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.
Serum tamsulosin hydrochloride concentration
Response to antidepressant treatment (citalopram)
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.
Attention deficit hyperactivity disorder (combined symptoms)
Endometrial cancer A uterine cancer that is located_in tissues lining the uterus.
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.
Acute lymphoblastic leukemia (childhood) disease cluster belonging to disease group cancer
Endothelial function traits disease cluster belonging to disease group cardiovascular
Psoriasis A common genetically determined, chronic, inflammatory skin disease characterized by rounded erythematous, dry, scaling patches. The lesions have a predilection for nails, scalp, genitalia, extensor surfaces, and the lumbosacral region. Accelerated epidermopoiesis is considered to be the fundamental pathologic feature in psoriasis.
HIV-1 replication
Self-reported allergy
Body mass index (non-asthmatics)
Methotrexate phramacokinetics (acute lymphoblastic leukemia)
Paraoxonase activity disease cluster belonging to disease group normalvariation
Femoral neck bone geometry and menarche (age at onset)
Gaucher disease severity
Glycemic traits (pregnancy)
Inflammatory bowel disease (early onset) disease cluster belonging to disease group immune
Bipolar disorder (age of onset and psychomotor symptoms)
HDL Cholesterol - Triglycerides (HDLC-TG)
Response to statin therapy (LDL-C)
Type 1 diabetes autoantibodies
Uric acid levels Is a quantification of uric acid, typically in blood. Uric acid is associated with gout, insulin resistance and cardivascular disease.
Age-related hearing impairment (interaction)
Economic and political preferences (immigration/crime)
Cardiac hypertrophy an increase in size of the cardiac tissue, not due to increased cell number
Emphysema-related traits
Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)
Hypertension Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
Lipoprotein-associated phospholipase A2 activity and mass
Atopy
Crohn's disease and psoriasis
Ribavirin-induced anemia
Skin pigmentation Coloration of the skin.
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.
Odorant perception (isobutyraldehyde)
IgE levels in asthmatics (D.f. specific)
Anti-cyclic Citrullinated Peptide Antibody
Gray matter volume (schizophrenia interaction)
Brain cytoarchitecture
Puberty onset disease cluster belonging to disease group developmental
Bipolar disorder A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence.|A major affective disorder marked by severe mood swings (manic or major depressive episodes) and a tendency to remission and recurrence (MeSH).
White matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)
Radiation response
Suicidal ideation in depression or bipolar disorder
Carotid intima media thickness disease cluster belonging to disease group cardiovascular
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 of smoking initiation
Chronic obstructive pulmonary disease A group of disorders affecting the bronchi and the lung parenchyma. It is characterized by chronic and irreversible obstruction of the airflow. It includes chronic bronchitis and pulmonary emphysema.|A disease of chronic diffuse irreversible airflow obstruction. Subcategories of COPD include CHRONIC BRONCHITIS and PULMONARY EMPHYSEMA.|A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.
Cardiac repolarization disease cluster belonging to disease group cardiovascular
Chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells.
Osteoporosis-related phenotypes disease cluster belonging to disease group metabolic
Methamphetamine dependence disease cluster belonging to disease group chemdependency
Pain An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
Pubertal anthropometrics
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
Hypertension risk in short sleep duration
Response to angiotensin II receptor blocker therapy
Response to TNF antagonist treatment disease cluster belonging to disease group pharmacogenomic
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.
Spine bone size Spine bone size is a measurement of the dimensions of the spine.
Sudden cardiac arrest
Breast cancer (prognosis)
Immune response to anthrax vaccine
Insulin-like growth factors disease cluster belonging to disease group unknown
White matter microstructure (global fractional anisotropy)
Smoking behavior Inhaling and exhaling the smoke of tobacco or something similar to tobacco.
Glaucoma An ocular disease, occurring in many forms, having as its primary characteristics an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. The consequences of the increased pressure may be manifested in a variety of symptoms, depending upon type and severity, such as excavation of the optic disk, hardness of the eyeball, corneal anesthesia, reduced visual acuity, seeing of colored halos around lights, disturbed dark adaptation, visual field defects, and headaches. (Dictionary of Visual Science, 4th ed)|Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
Cholesterol and Triglycerides
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)
Bone mineral density (paediatric, lower limb)
Eosinophilic esophagitis (pediatric) disease cluster belonging to disease group other
Helicobacter pylori serologic status
Diabetes related insulin traits disease cluster belonging to disease group metabolic
Smoking initiation initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Response to platinum-based chemotherapy in non-small-cell lung cancer
Lung cancer A respiratory system cancer that is located_in the lung.
Chronic periodontitis
Intraocular pressure
Phytosterol levels
Hepatitis C induced liver cirrhosis liver injury resulting from hepatitis C infection
Metabolite levels (HVA-5-HIAA Factor score)
Obesity (extreme) disease cluster belonging to disease group metabolic
Non-alcoholic fatty liver disease A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
Vascular endothelial growth factor levels
Illicit drug use
Bone properties (heel)
Cardiovascular disease risk factors disease cluster belonging to disease group cardiovascular
Duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295.
Schizophrenia A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.|A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
Vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
Acute lymphoblastic leukemia (B-cell precursor)
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)
Esophageal squamous cell cancer (length of survival)
Response to fenofibrate
Celiac disease and Rheumatoid arthritis
Triglycerides
Folate pathway vitamin levels disease cluster belonging to disease group metabolic
PCA3 expression level
Systemic lupus erythematosus A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Response to antipsychotic treatment disease cluster belonging to disease group pharmacogenomic
Asthma A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.|Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory.|A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).|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 resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.
Heart failure
Retinopathy in non-diabetics
Callous-unemotional behaviour bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness
Myopia (severe)
Smooth-surface caries
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.
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.
Primary sclerosing cholangitis
Suicide attempts in bipolar disorder
Biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Black vs. red hair color disease cluster belonging to disease group other
vWF and FVIII levels
Response to TNF-alpha inhibitors in rheumatoid arthritis
Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)
Bladder cancer (smoking interaction)
Serum dimethylarginine levels (asymmetric)
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
Non-melanoma skin cancer A skin cancer that is located_in tissues of the skin and develops from epithelial cells.
Common traits (Other)
Anthropometric traits Anthropometry is a measurement of the size, weight, and proportions of the human or other primate body.
Post-traumatic stress disorder (asjusted for relatedness)
Blood pressure measurement (low sodium intervention)
Prostate cancer (gene x gene interaction)
Eye color Color of the iris.
Glaucoma (primary open-angle) disease cluster belonging to disease group vision
Homeostasis model assessment of insulin resistance (interaction)
Acenocoumarol maintenance dosage disease cluster belonging to disease group pharmacogenomic
Bipolar disorder (mood-incongruent)
Alzheimer's disease (age of onset)
Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)
Ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Drug-induced liver injury (flucloxacillin) disease cluster belonging to disease group pharmacogenomic
Conduct disorder (interaction) disease cluster belonging to disease group psych
Immune response to measles-mumps-rubella vaccine
Response to iloperidone treatment (QT prolongation) disease cluster belonging to disease group pharmacogenomic
Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)
Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)
Osteoarthritis (hip)
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.
Cerebrospinal AB1-42 levels
Narcolepsy with cataplexy A condition characterized by recurrent episodes of daytime somnolence and lapses in consciousness (microsomnias) that may be associated with automatic behaviors and AMNESIA. CATAPLEXY; SLEEP PARALYSIS, and hypnagogic HALLUCINATIONS frequently accompany narcolepsy. The pathophysiology of this disorder includes sleep-onset rapid eye movement (REM) sleep, which normally follows stage III or IV sleep. (From Neurology 1998 Feb;50(2 Suppl 1):S2-S7)
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.
Alzheimer's disease (cognitive decline)
Waist circumference and related phenotypes disease cluster belonging to disease group metabolic
Essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
Response to taxane treatment (docetaxel)
PR segment measurement of the interval from the offset of the P wave to the onset of the QRS wave complex
Testicular cancer A male reproductive system cancer that is located_in the testicles.
Glioma A cell type cancer that has_material_basis_in glial cells and is located_in brain or located_in spine.
Asthma (sex interaction)
Pulmonary function (interaction)
Systemic sclerosis A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies.|A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
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.
Immune reponse to smallpox (secreted IL-2)
Oleic acid (18:1n-9) plasma levels
Self-rated health The process of questioning an individual, usually by means of a survey to determine general health.
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.
Stroke An artery disease that is characterized by dysfunction of the blood vessels supplying the brain.
Chagas cardiomyopathy in Tripanosoma cruzi seropositivity
Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)
Bone mineral density (spine) disease cluster belonging to disease group metabolic
Neutrophil count Is a quantification of neutrophils in blood.
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
Hematological and biochemical traits
Response to hepatitis C treatment disease cluster belonging to disease group pharmacogenomic
Age-related macular degeneration (extreme sampling)
Orofacial clefts disease cluster belonging to disease group developmental
Lumiracoxib-related liver injury
Obesity and osteoporosis disease cluster belonging to disease group metabolic
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.
Hearing impairment A decreased magnitude of the sensory perception of sound.
Primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)
Sexual dimorphism in anthropometric traits
Alzheimer's disease biomarkers
Aging (time to death)
Alcohol dependence A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)|Disorders related to or resulting from abuse or mis-use of alcohol.
Body mass index (interaction)
Response to radiotherapy in prostate cancer (toxicity)
Cannabis use (initiation)
Erectile dysfunction
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.
Serum prostate-specific antigen levels
Type 2 diabetes (dietary heme iron intake interaction)
Serum dimethylarginine levels (symmetric)
Coronary heart disease Thickening and loss of elasticity of the CORONARY ARTERIES, leading to progressive arterial insufficiency (CORONARY DISEASE).|Pathological processes of CORONARY ARTERIES that may derive from a congenital abnormality, atherosclerotic, or non-atherosclerotic cause.|Narrowing of the coronary arteries due to fatty deposits inside the arterial walls.|An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels.
Gallbladder cancer A biliary tract cancer that is located_in the gallbladder.
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.
Sensory disturbances after bilateral sagittal split ramus osteotomy
Longevity (90 years and older)
Anticoagulant levels
Coronary artery calcification Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries.
RR interval (heart rate) disease cluster belonging to disease group cardiovascular
Vitiligo A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached.
Corneal structure
Carotid atherosclerosis in HIV infection disease cluster belonging to disease group cardiovascular
Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)
Waist-to-hip circumference ratio (interaction)
Information processing speed
Alcohol and nictotine co-dependence
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.
Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)
Anxiety in major depressive disorder
Pit-and-Fissure caries
Waist Circumference - Triglycerides (WC-TG)
Two-hour glucose challenge disease cluster belonging to disease group metabolic
Systolic blood pressure (alcohol consumption interaction)
Blond vs. brown hair color disease cluster belonging to disease group other
β2-Glycoprotein I (β2-GPI) plasma levels
Thyroid volume Is a quantification of the volume of the thyroid.
Chronic lymphocytic leukemia A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease.
Inattentive symptoms disease cluster belonging to disease group psych
Plasma homocysteine levels (post-methionine load test)
Liver enzyme levels (aspartate transaminase)
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.
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.
Renal function-related traits (sCR)
Total ventricular volume
Blood trace element (Zn levels)
Amyotrophic lateral sclerosis A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).|An autosomal dominant inherited form of amyloidosis.|A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)
Colorectal cancer (diet interaction)
Epilepsy (remission after treatment)
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)
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.
Periodontitis (PAL4Q3)
Cortical structure
Hypothyroidism A deficiency of thyroid hormone.
Pancreatitis Inflammation of the pancreas.|INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.
Response to radiotherapy in cancer (late toxicity)
Osteoporosis Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.
Fasting glucose-related traits (interaction with BMI)
Systolic blood pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Free thyroxine concentration
Intelligence (childhood)
Liver enzyme levels (alkaline phosphatase)
Mean arterial pressure (alcohol consumption interaction)
Fibrinogen disease cluster belonging to disease group metabolic
Hip geometry Measurements of the hip.
Sphingolipid levels
Factor VII
Iris characteristics
Sexual dysfunction (female)
Dialysis-related mortality
Tetralogy of Fallot OMIM mapping confirmed by DO. [LS].
Blue vs. green eyes disease cluster belonging to disease group other
LDL cholesterol Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
Response to treatment for acute lymphoblastic leukemia disease cluster belonging to disease group pharmacogenomic
Stroke (ischemic) disease cluster belonging to disease group cardiovascular
Response to citalopram treatment disease cluster belonging to disease group pharmacogenomic
Basal cell carcinoma A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471).
Red blood cell count The number of red blood cells per unit volume in a sample of venous blood.
Neuroblastoma A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)|A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).
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.
Osteosarcoma A sarcoma originating in bone-forming cells, affecting the ends of long bones. It is the most common and most malignant of sarcomas of the bones, and occurs chiefly among 10- to 25-year-old youths. (From Stedman, 25th ed)|A malignant mesenchymal tumor arising from the bone.|A usually aggressive malignant bone-forming mesenchymal tumor, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.
Smoking quantity
Volumetric brain MRI Is a quantification of brain volume using magnetic resonance imaging.
Response to metformin Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a metformin stimulus.
Renal function-related traits (BUN)
Adverse response to lamotrigine and phenytoin
Psychosis (atypical)
Beta thalassemia/hemoglobin E disease disease cluster belonging to disease group hematological
Response to antineoplastic agents
Hepatocellular carcinoma (hepatitis B virus related)
Recombination rate (males) disease cluster belonging to disease group other
Lymphocyte counts A quantification of lymphocytes in blood.
Capecitabine sensitivity
Myeloproliferative neoplasms disease cluster belonging to disease group cancer
Response to temozolomide
Lung function (forced expiratory volume in 1 second to forced vital capacity ratio)
Interleukin-18 levels An IL-18 measurement is the quantification of IL-18, typically in blood.
Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)
Alcohol consumption (maxi-drinks)
Interstitial lung disease
Exfoliation glaucoma or exfoliation syndrome
Puberty onset (breast development)
Urate levels A urate measurement is the quantification of some urate in body fluid
Creutzfeldt-Jakob disease OMIM mapping confirmed by DO. [SN].
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)
Response to acetaminophen (hepatotoxicity)
Weight The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
Dietary macronutrient intake
Methotrexate clearance (acute lymphoblastic leukemia)
Anterior chamber depth
Optic nerve measurement (cup-to-disc ratio)
Exercise (leisure time) disease cluster belonging to disease group other
Longevity The length of time of an organism's life.
Attention deficit hyperactivity disorder and conduct disorder disease cluster belonging to disease group psych
Black vs. blond hair color disease cluster belonging to disease group other
HIV-1 susceptibility
Esophageal cancer (squamous cell)
Educational attainment
Palmitic acid (16:0) plasma levels
IgG levels
Narcolepsy (age of onset)
Urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
Tonometry disease cluster belonging to disease group other
Head circumference (infant)
Nephrotic syndrome (acquired)
Vertical cup-disc ratio
Plasma amyloid beta peptide concentrations (ABx-40)
Metabolite levels (Dihydroxy docosatrienoic acid)
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.
Coronary artery disease or large artery stroke
Brain connectivity
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
Myocardial infarction (early onset) disease cluster belonging to disease group cardiovascular
Retinol levels
Addiction strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds
Cognitive function Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.
Breast cancer (early onset)
Cardiac muscle measurement
Monocyte chemoattractant protein-1 disease cluster belonging to disease group immune
Body mass index (asthmatics)
Fasting insulin-related traits (interaction with BMI)
Myasthenia gravis OMIM mapping confirmed by DO. [SN].
Blood trace element (Cu levels)
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.
Sclerosing cholangitis and ulcerative colitis (combined)
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.
Attention deficit hyperactivity disorder A behavior disorder originating in childhood in which the essential features are signs of developmentally inappropriate inattention, impulsivity, and hyperactivity. Although most individuals have symptoms of both inattention and hyperactivity-impulsivity, one or the other pattern may be predominant. The disorder is more frequent in males than females. Onset is in childhood. Symptoms often attenuate during late adolescence although a minority experience the full complement of symptoms into mid-adulthood. (From DSM-IV)
Breast cancer (male) disease cluster belonging to disease group cancer
Temperament
Circulating myeloperoxidase levels (serum)
Depression (quantitative trait)
Cardiac structure and function disease cluster belonging to disease group cardiovascular
Metabolite levels (5-HIAA/ MHPG Ratio)
Periodontitis (DPAL)
Major mood disorders
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.
Other erythrocyte phenotypes disease cluster belonging to disease group hematological
Lp (a) levels disease cluster belonging to disease group metabolic
Thyroid peroxidase antibody levels
Apolipoprotein Levels
Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)
Estradiol levels Is a quantification of circulating estradiol a circulating steriod sex hormone.
Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)
Disc degeneration (lumbar)
Post-traumatic stress disorder A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event.|A class of traumatic stress disorders with symptoms that last more than one month. There are various forms of post-traumatic stress disorder, depending on the time of onset and the duration of these stress symptoms. In the acute form, the duration of the symptoms is between 1 to 3 months. In the chronic form, symptoms last more than 3 months. With delayed onset, symptoms develop more than 6 months after the traumatic event (MeSH).|An anxiety disorder precipitated by an experience of intense fear or horror while exposed to a traumatic (especially life-threatening) event. The disorder is characterized by intrusive recurring thoughts or images of the traumatic event; avoidance of anything associated with the event; a state of hyperarousal and diminished emotional responsiveness. These symptoms are present for at least one month and the disorder is usually long-term.|An anxiety disease which results from a traumatic experience that results in psychological trauma.
Suicide attempts in depression or bipolar disorder
Response to cytidine analogues (gemcitabine)
Adverse response to carbamapezine
Cerebrospinal P-tau181p levels
Lung function (forced vital capacity)
Plasma plasminogen activator levels
N-glycan levels
Bilirubin levels A bilirubin measurement is a quantification of bilirubin typically measured in serum.
Lung function (forced expiratory flow between 25% and 75% of forced vital capacity)
Type 2 diabetes and other traits disease cluster belonging to disease group metabolic
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.
Hirschsprung's disease A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Platelet aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules.
Soluble ICAM-1 disease cluster belonging to disease group hematological
Tumor biomarkers
Permanent tooth development
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.
Attention deficit hyperactivity disorder (time to onset) disease cluster belonging to disease group psych
Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)
Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)
Chronic kidney disease Conditions in which the KIDNEYS perform below the normal level for more than three months. Chronic kidney insufficiency is classified by five stages according to the decline in GLOMERULAR FILTRATION RATE and the degree of kidney damage (as measured by the level of PROTEINURIA). The most severe form is the end-stage renal disease (CHRONIC KIDNEY FAILURE). (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002)|The end-stage of CHRONIC RENAL INSUFFICIENCY. It is characterized by the severe irreversible kidney damage (as measured by the level of PROTEINURIA) and the reduction in GLOMERULAR FILTRATION RATE to less than 15 ml per min (Kidney Foundation: Kidney Disease Outcome Quality Initiative, 2002). These patients generally require HEMODIALYSIS or KIDNEY TRANSPLANTATION.
Quantitative traits disease cluster belonging to disease group other
Prostate-specific antigen levels A PSA measurement is the quantification of prostate specific antigen typically in blood used in the diagnosis of prostate cancer.
Monocyte count quantification of monocytes in the blood
Periodontal microbiota
Response to antipsychotic treatment in schizophrenia (reasoning)
PR interval in Tripanosoma cruzi seropositivity
Chronic obstructive pulmonary disease (moderate to severe)
Migraine - clinic-based
White matter hyperintensity burden
Hepatitis C induced liver fibrosis
Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)
Mean forced vital capacity from 2 exams disease cluster belonging to disease group cardiovascular
Bipolar disorder and major depressive disorder (combined)
Erythrocyte sedimentation rate Measurement of rate of settling of erythrocytes in anticoagulated blood.
Mathematical ability in children with dyslexia
Economic and political preferences (time)
IFN-related cytopenia
Sjögren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer
Warfarin maintenance dose disease cluster belonging to disease group pharmacogenomic
Response to methotrexate in juvenile idiopathic arthritis
Urinary albumin excretion rate in type 1 diabetes
Response to mTOR inhibitor (everolimus)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)
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.
Metabolic syndrome (bivariate traits)
Chronic kidney disease and serum creatinine levels
Bulimia nervosa An eating disorder that is characterized by a cycle of binge eating (BULIMIA or bingeing) followed by inappropriate acts (purging) to avert weight gain. Purging methods often include self-induced VOMITING, use of LAXATIVES or DIURETICS, excessive exercise, and FASTING.
Urinary metabolites (H-NMR features)
Obesity-related traits disease cluster belonging to disease group metabolic
Lupus nephritis in systemic lupus erythematosus
End-stage renal disease
Response to anti-TNF treatment in rheumatoid arthritis
Lymphoma A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.|A cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs.|A general term for various neoplastic diseases of the lymphoid tissue.|Any of a group of malignant tumors of lymphoid tissue that differ from HODGKIN DISEASE, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant REED-STERNBERG CELLS, a characteristic of Hodgkin's disease.
Serum albumin level
Functional MRI
Birth weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
HIV-1 control disease cluster belonging to disease group infection
Resting heart rate
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.
Chronic obstructive pulmonary disease-related biomarkers
Gout Hereditary metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi.
Economic and political preferences (environmentalism)
Epstein-Barr virus immune response (EBNA-1)
Longevity (85 years and older)
Renal function and chronic kidney disease disease cluster belonging to disease group renal
Brain structure disease cluster belonging to disease group neurological
Hematology traits
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
Androgen levels disease cluster belonging to disease group other
Glioblastoma
Optic disc parameters
Multiple sclerosis (age of onset) disease cluster belonging to disease group immune
Asthma (childhood, severe)
Parkinson's disease (age of onset) disease cluster belonging to disease group neurological
Asthma (bronchodilator response)
Antineutrophil cytoplasmic antibody-associated vasculitis
End-stage coagulation
Esophageal cancer (alcohol interaction)
Conduct disorder (symptom count)
Primary tooth development (time to first tooth eruption)