GWAS Catalog SNP-Phenotype Associations 2025 Dataset

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 2025 Oct 09
Stats
  1. 14821 genes
  2. 4492 phenotypes
  3. 105739 gene-phenotype associations

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phenotype Gene Sets

4492 sets of genes associated with phenotypes in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.

Gene Set Description
Lymphocyte percentage of white cells
Erythrocyte methylated 6-mercaptopurine metabolite concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia
DNA-incorporated thioguanine levels in 6-mercaptopurine-treated acute lymphoblastic leukaemia
Erythrocyte thioguanine concentration in 6-mercaptopurine-treated acute lymphoblastic leukaemia
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
Modic changes
Meconium ileus in cystic fibrosis
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.
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
Lung function (FVC)
High light scatter reticulocyte count
Nicotine dependence symptom count
High light scatter reticulocyte percentage of red cells
Lymphocyte count A quantification of lymphocytes in blood.
Basophil count
Mean corpuscular volume A mean corpuscular volume is the result of calculation of the mean volume of erythrocytes in a blood sample.
Monocyte count quantification of monocytes in the blood
Mean platelet volume A measurement of mean platelet volume is a machine-calculated measurement of the average size of platelets found in blood
Platelet count The number of PLATELETS per unit volume in a sample of venous BLOOD.
Red blood cell count
Breast cancer (estrogen-receptor positive)
Breast cancer (progesterone-receptor positive)
Alzheimer's disease or fasting glucose levels (pleiotropy)
Alzheimer's disease or fasting insulin levels (pleiotropy)
Alzheimer's disease or HDL levels (pleiotropy)
Thiopurine-induced myelosuppression in inflammatory bowel disease
FEV1
Lung function (FEV1/FVC)
Attention deficit hyperactivity disorder or intracranial volume (pleiotropy)
Attention deficit hyperactivity disorder or putamen volume (pleiotropy)
Ocular sarcoidosis
Ocular sarcoidosis in sarcoidosis
Autism spectrum disorder A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
Alzheimer's disease (late onset) disease cluster belonging to disease group neurological
Opioid exposure
Nicotine metabolite ratio in current smokers
Aortic valve stenosis An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve.
Hemoglobin
Conjunctival UV autofluorescence (CUVAF)
Immature fraction of reticulocytes
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.
Pelvic organ prolapse Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.
Serum metabolite levels
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.
Platelet distribution width
Gut microbiota (bacterial taxa, hurdle binary method)
Autoimmune thyroid disease disease cluster belonging to disease group immune
Attention deficit hyperactivity disorder (inattention symptoms)
Attention deficit hyperactivity disorder (hyperactivity-impulsivity symptoms)
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)
Reticulocyte count
Reticulocyte fraction of red cells
Red cell distribution width
CV-A6-associated hand, foot, and mouth disease (severe vs mild)
Breast cancer A thoracic cancer that originates in the mammary gland.
White blood cell count
Estrogen level change in anastrozole-treated breast cancer
Nonalcoholic fatty liver disease
Rheumatic heart disease A heart valve disease that is characterized by repeated inflammation with fibrinous repair. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords.It is caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage.
Cardiovascular death or myocardial infarction in response to clopidogrel treatment
Platelet reactivity in response to clopidogrel treatment
Cardiovascular death, myocardial infarction or stroke in response to clopidogrel treatment
Stent thrombosis in response to clopidogrel treatment
Diastolic blood pressure
Systolic blood pressure
Receptive language ability
Parent of origin effect on receptive language ability (paternal)
Thrombin-induced platelet aggregation
Acute anterior uveitis in ankylosing spondylitis
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.
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)
Response to radiotherapy in nasopharyngeal carcinoma (acute oral mucositis)
Interleukin-6 levels
Stroke A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)|A sudden, nonconvulsive loss of neurologic function due to an ischemic or hemorrhagic intracranial vascular event. In general, cerebrovascular accidents are classified by anatomic location in the brain, vascular distribution, etiology, age of the affected individual, and hemorrhagic vs. nonhemorrhagic nature (MeSH).|A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.|Tissue NECROSIS in any area of the brain, including the CEREBRAL HEMISPHERES, the CEREBELLUM, and the BRAIN STEM. Brain infarction is the result of a cascade of events initiated by inadequate blood flow through the brain that is followed by HYPOXIA and HYPOGLYCEMIA in brain tissue. Damage may be temporary, permanent, selective or pan-necrosis.
Lung adenocarcinoma (survival time) in never smokers
Nontraumatic osteonecrosis of the femoral head
Parkinson's disease progression (motor)
Parkinson's disease progression (cognitive)
Parkinson's disease progression (composite)
Diabetic neuropathy in type 2 diabetes
Macrovascular complications in type 2 diabetes
Ophthalmic complications in type 2 diabetes
Fasting plasma glucose
Tau burden
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
Prostate cancer A male reproductive organ cancer that is located_in the prostate.
Glucocorticoid receptor gene expression in B-cell precursor acute lymphoblastic leukaemia
prednisolone sensitivity in B-cell precursor acute lymphoblastic leukaemia
dexamethasone sensitivity in B-cell precursor acute lymphoblastic leukaemia
Serum C-reactive protein concentration
Serum C-reactive protein concentration in non-obese individuals
Serum C-reactive protein concentration in obesity
Serum C-reactive protein concentration in low fat diet
Serum C-reactive protein concentration in high fat diet
Serum C-reactive protein concentration in visceral obesity (waist-hip ratio)
Serum C-reactive protein concentration in visceral obesity (waist circumference)
Serum interleukin-6 concentration in active individuals
Neonatal white matter microstructure
Restless legs syndrome in migraine without aura
Restless legs syndrome in migraine
Concussion
High myopia
Cerebrospinal fluid t-tau:AB1-42 ratio
Long QT syndrome An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles).
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.
Childhood ALL/LBL (acute lymphoblastic leukemia/lymphoblastic lymphoma) treatment-related venous thromboembolism
Serum uric acid levels
Dietary fat liking
Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer
Clozapine concentration in schizophrenia
N-desmethylclozapine concentration in schizophrenia
Clozapine-to-N-desmethylclozapine metabolic ratio in schizophrenia
Gestational insulin sensitivity
Mean reticulocyte volume
LDL cholesterol levels
HDL cholesterol levels disease cluster belonging to disease group cardiovascular
Total cholesterol levels
Total triglycerides levels
Mean spheric corpuscular volume
Neutrophil percentage of white cells
Obese vs. thin
Obesity (extreme) disease cluster belonging to disease group metabolic
Normal body mass index vs. thin
Plateletcrit
Essential hypertension (time to event)
Hyperlipidemia (time to event)
Osteoarthrosis (time to event)
Asthma (time to event)
Coronary atherosclerosis (time to event)
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.
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.
Type 2 diabetes (time to event)
Carotid intima media thickness x smoking interaction
Adverse response to inhaled corticosteroid treatment x age interaction in asthma
Creativity
Left ventricular end-diastolic volume
Left ventricular end-systolic volume
Left ventricular ejection fraction
Emotional recognition
Neutrophil count Is a quantification of neutrophils in blood.
Weight gain in amisulpride-treated first-episode psychosis
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.
Adult diffuse glioma (IDH mutation)
Adult diffuse glioma (IDH wildtype)
Adult diffuse glioma (IDH mutation, 1p/19q non-codeleted)
Adult diffuse glioma (TERT mutation only)
Anthracycline-induced cardiotoxicity in early breast cancer
Drug-induced liver injury (flucloxacillin) disease cluster belonging to disease group pharmacogenomic
Glycated hemoglobin levels in type 1 diabetes
Crohn's disease An intestinal disease that involves inflammation located_in intestine.
Spontaneous coronary artery dissection
Sweet taste preference
Urine 6-bromotryptophan levels in chronic kidney disease
Bladder cancer
Endometriosis or migraine
Venous thromboembolism Obstruction of a vein or VEINS (embolism) by a blood clot ( THROMBUS) in the blood stream.
Systolic blood pressure x educational attainment (some college) interaction (2df)
Systolic blood pressure x educational attainment (graduated college) interaction (2df)
Diastolic blood pressure x educational attainment (graduated college) interaction (2df)
Mean arterial pressure x educational attainment (some college) interaction (2df)
Mean arterial pressure x educational attainment (graduated college) interaction (2df)
Pulse pressure x educational attainment (some college) interaction (2df)
Postoperative myocardial infarction after cardiac surgery
Postoperative stroke after cardiac surgery
Postoperative acute renal failure after cardiac surgery
Postoperative atrial fibrillation after cardiac surgery
Postoperative complication after cardiac surgery
Peak expiratory flow
Arsenic metabolism disease cluster belonging to disease group pharmacogenomic
Monocyte percentage of white cells
Intracranial aneurysm
Tourette syndrome
Estimated glomerular filtration rate in coronary artery disease and impaired kidney function
Crohn's disease or systemic sclerosis
Calcific aortic valve stenosis A type of aortic valve stenosis associated with calcification of the aortic heart valve.
Thyroid volume in Hashimoto’s thyroiditis
Insomnia symptoms (never/rarely vs. usually)
Insomnia symptoms (never/rarely vs. sometimes/usually)
IgG N-glycosylation phenotypes (multivariate analysis)
Thyroxine levels
Triiodothyronine levels
Triiodothyronine/thyroxine ratio
Serum urea levels
Gut microbiota (bacterial taxa, rank normal transformation method)
Polycystic ovary syndrome (reproductive subtype)
Polycystic ovary syndrome (metabolic subtype)
Polycystic ovary syndrome (indeterminate subtype)
Sepsis (hospital admission)
Pneumonia (28-day mortality)
Sepsis (28-day mortality)
Sepsis (90-day mortality)
Benign childhood epilepsy with centro-temporal spikes
Cardiorespiratory fitness (800m run time)
Cognitive impairment in depression
First year height change in growth hormone-treated short stature
Type 2 diabetes disease cluster belonging to disease group metabolic
Chronic rhinosinusitis
Nasal polyps
Chronotype (sMEQ score)
Evening vs. morning chronotype (sMEQ score)
Evening vs. morning chronotype (self-assessed)
Depressive symptoms x herpes simplex 1 infection interaction
Depression x herpes simplex 1 infection interaction
Response to antiepileptic mood-stabilizing treatment in bipolar disorder
Autism spectrum disorders (social interaction)
L-selectin levels
White matter hyperintensity volume x hypertension interaction (2df)
Triglyceride levels in HIV infection
White matter hyperintensity volume (adjusted for hypertension)
LDL cholesterol levels in HIV infection
White matter hyperintensity volume
HDL cholesterol levels in HIV infection
Parental lifespan
Homeostasis model assessment of insulin resistance
Fasting glucose disease cluster belonging to disease group metabolic
Plasma selenium concentration
Response to selenium supplementation (change in plasma selenium concentration)
Caffeine consumption from coffee or tea
Caffeine consumption from coffee
Caffeine consumption from tea
Problematic alcohol use
Leg fat mass (lean adjusted)
Leg lean mass (fat adjusted)
Leg fat mass and leg lean mass (pleiotropy)
Tumor necrosis factor levels
Vaginal microbiome composition (L. iners)
Vaginal microbiome composition (G. vaginalis)
Vaginal microbiome composition (Shannon diversity index)
Vaginal microbiome composition (community state type)
Vaginal microbiome composition (L. crispatus)
Arterial stiffness (carotid-femoral pulse wave velocity)
Arterial stiffness (brachial-femoral pulse wave velocity)
Arterial stiffness (brachial-ankle pulse wave velocity)
Pancreatic beta-cell glucose sensitivity
Sarcoidosis A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs.
circulating leptin levels
circulating leptin levels adjusted for BMI
Nonalcoholic steatohepatitis
Distal/Left-sided colorectal cancer
Proximal colorectal cancer
Distal colorectal cancer
Rectal cancer
Colon cancer A colorectal cancer that is located_in the colon.
Severe COVID-19 infection with respiratory failure (analysis I)
Severe COVID-19 infection with respiratory failure (analysis II)
Liver fat content (MRI proton density fat fraction measure)
Liver fibrosis and steatohepatitis severity (MRI cT1 measure)
Cutaneous mastocytosis
Systemic mastocytosis
Cutaneous mastocytosis (adult)
Mastocytosis OMIM mapping confirmed by DO. [LS].
Cutaneous mastocytosis (childhood)
Hepatocyte growth factor levels
Septic shock (28-day mortality)
Septic shock resolution
Height
Total carotid plaque area (excess vs minimal atherosclerosis)
Early-onset ischemic stroke
Periventricular white matter hyperintensities
Neuroblastoma (pediatric)
Allergic disease (asthma, hay fever and/or eczema) (age of onset)
Electrocardiographic traits (multivariate)
Allergic disease (asthma, hay fever and/or eczema) (multivariate analysis)
Brain morphology (MOSTest)
Cortical thickness (MOSTest)
Subcortical volume (MOSTest)
Brain morphology (min-P)
Aging traits (healthspan, parental lifespan or longevity) (multivariate analysis)
Cortical surface area (min-P)
Cortical thickness (min-P)
Subcortical volume (min-P)
Deep white matter hyperintensities
Atopic dermatitis A dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking.
Fasting triglyceride levels
Postprandial triglyceride levels
Postprandial triglyceride response
Leukoderma in response to rhododendrol
Brugada syndrome A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death.
Chronic kidney disease x type 2 diabetes interaction
Peripheral arterial disease x type 2 diabetes interaction
Coronary heart disease x type 2 diabetes interaction
Acute ischemic stroke x type 2 diabetes interaction
Retinopathy x type 2 diabetes interaction
Neuropathy x type 2 diabetes interaction
Pancreatic cancer An endocrine gland cancer located_in the pancreas.
Cortical surface area (MOSTest)
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.
Motor fluctuations in levodopa treated Parkinson's disease
Levodopa-induced dyskinesia in levodopa treated Parkinson's disease
Corneal hysteresis
Corneal resistance factor
Response to esketamine in treatment resistant depression
Response to esketamine (responder status) in treatment resistant depression
spontaneous preterm birth x maternal stress interaction (1df)
Ceramide levels (C24:0)
Ceramide levels (C22:0)
Trigger finger
Rheumatoid arthritis An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint.
Age-related macular degeneration Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.|Degenerative changes in the macula lutea of the retina.
Fractures (paediatric)
Anti-Epstein-Barr virus nuclear antigen (EBNA) IgG levels
Persistent chemotherapy-induced alopecia in breast cancer
Sudden cardiac arrest in coronary artery disease
Oral cavity cancer A gastrointestinal system cancer that is located_in the oral cavity.
Oropharynx cancer A pharynx cancer that is located_in the oropharynx.
Hypopharyngeal or laryngeal cancer
Head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.|A carcinoma of any tissue within the head and neck region.
Male-pattern baldness disease cluster belonging to disease group other
Self-rated health
Glaucoma (primary open-angle)
Household income
Length of menstrual cycle
Simvastatin-induced myopathy
Atorvastatin-induced myopathy
Statin-induced myopathy (severe)
Statin-induced myopathy
Anorectal malformation
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).
Interstitial lung diseases in rheumatoid arthritis
Iron status biomarkers (total iron binding capacity)
Iron status biomarkers (iron levels)
Iron status biomarkers (transferrin saturation)
Iron status biomarkers (ferritin levels)
Chemerin levels
First fracture in long-term childhood cancer survivors (time to event)
Myocardial infarction Xref MGI.
Bipolar disorder (age of onset <21) or attention deficit hyperactivity disorder
Bipolar disorder or attention deficit hyperactivity disorder
Granulocyte percentage of myeloid white cells
Granulocyte count
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.
Systemic juvenile idiopathic arthritis disease cluster belonging to disease group immune
Posterior cortical atrophy and Alzheimer's disease
Eosinophil percentage of white cells
Endometrial cancer A uterine cancer that is located_in tissues lining the uterus.
Arthritis (juvenile idiopathic) disease cluster belonging to disease group immune
Mathematical ability
C-reactive protein levels or HDL-cholesterol levels (pleiotropy)
C-reactive protein levels or triglyceride levels (pleiotropy)
C-reactive protein levels or LDL-cholesterol levels (pleiotropy)
Number of children ever born
Age at first birth
C-reactive protein levels or total cholesterol levels (pleiotropy)
Cancer (pleiotropy)
Cancer A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease.
Response to selective serotonin reuptake inhibitors in depression
Response to bupropion and depression
Response to citalopram or escitalopram in depression
Response to selective serotonin reuptake inhibitors and depression
Response to antidepressants in depression
Non-response to citalopram or escitalopram and depression
Response to citalopram or escitalopram and depression
Non-response to antidepressants and depression
Non-response to selective serotonin reuptake inhibitors and depression
Non-response to bupropion and depression
Response to antidepressants and depression
Response to bupropion in depression
Core binding factor acute myeloid leukemia
Eosinophil count
Sum neutrophil eosinophil counts
Cerebrospinal fluid AB1-42 levels
Cerebrospinal P-tau181p levels
Cerebrospinal T-tau levels
Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) to 1,3,7-trimethylxanthine (caffeine) ratio)
Nonsyndromic cleft lip with cleft palate
Neutrophil percentage of granulocytes
Caffeine metabolism (plasma 1,7-dimethylxanthine (paraxanthine) level)
Caffeine metabolism (plasma 3,7-dimethylxanthine (theobromine) level)
Caffeine metabolism (plasma 1,3,7-trimethylxanthine (caffeine) level)
Caffeine metabolism (plasma 1,3-dimethylxanthine (theophylline) level)
Bone mineral density (femoral neck)
Bone mineral density (total hip)
Bone mineral density (spine) disease cluster belonging to disease group metabolic
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.
Macular telangiectasia type 2
Monocyte-lymphocyte ratio
Abdominal aortic aneurysm An aortic aneurysm that is located_in the abdominal aorta.
Response to carboplatin in ovarian cancer (MTT IC50)
Response to carboplatin and paclitaxel in ovarian cancer (Caspase 3/7 EC50)
Response to paclitaxel in ovarian cancer (Caspase 3/7 EC50)
Response to paclitaxel in ovarian cancer (MTT IC50)
Response to carboplatin and paclitaxel in ovarian cancer (MTT IC50)
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.
Renal underexcretion gout
Renal overload gout
Erythrocyte cadmium concentration
Erythrocyte cadmium concentration in never smokers
Heroin dependence An opiate dependence that involves the continued use of heroin despite problems related to use of the substance.
Sum basophil neutrophil counts
Sciatica caused by lumbar disc herniation (treated with microdiscectomy)
Skin fluorescence in type 1 diabetes
Breast cancer (estrogen-receptor negative)
Serum parathyroid hormone levels
Urinary electrolytes (magnesium/calcium ratio)
Tonsillectomy
Neuroticism disease cluster belonging to disease group psych
Depressive symptoms measurement (somatic complaints domain)
Excessive daytime sleepiness
Sleep duration duration of sleep, measured either via a self-reporting questionnaire, interview or through obversation in a sleep lab
Sleep traits (multi-trait analysis)
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
Colorectal cancer A large intestine cancer that is located in the colon and/or located in the rectum.
Hemoglobin concentration
Eosinophil percentage of granulocytes
White blood cell count (basophil)
Midgestational circulating levels of organochlorine pesticides
Midgestational circulating levels of PCBs (fetal genetic effect)
Midgestational circulating levels of PBDEs
Midgestational circulating levels of PBDEs (fetal genetic effect)
Midgestational circulating levels of PCBs
Sum eosinophil basophil counts
Epilepsy and lamotrigine-induced maculopapular eruptions
Multiple myeloma (survival)
Trichloroethylene-induced hypersensitivity syndrome
Hypersomnia during a major depressive episode in bipolar disorder
Post bronchodilator FEV1
Postprandial triglyceride response to high fat diet meal
MGMT methylation in smokers
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.
Platelet thrombus formation
Adolescent idiopathic scoliosis
Sight-threatening diabetic retinopathy in type 2 diabetes
Warfarin maintenance dose disease cluster belonging to disease group pharmacogenomic
Post bronchodilator FEV1/FVC ratio in COPD
Lipoprotein (a) levels
Lung disease severity in cystic fibrosis
White matter lesion progression
White matter lesion progression (adjusted for white matter lesion burden at baseline)
Staphylococcus aureus infection Staphylococcus aureus infection is a bacterial disease caused by infection from the Staphylococcus aureus bacteria.
Skin and soft tissue Staphylococcus aureus infection
Fibrinogen levels
Late-onset myasthenia gravis
Gastric cancer disease cluster belonging to disease group cancer
Cardia gastric cancer
Non-cardia gastric cancer
Pelvic organ prolapse (moderate/severe)
Survival in colorectal cancer
Survival in colorectal cancer (non-distant metastatic)
Survival in colorectal cancer (distant metastatic)
Response to lithium treatment in bipolar disorder (continuous phenotype)
Response to lithium treatment in bipolar disorder (dichotomous phenotype)
Frontotemporal dementia A basal ganglia disease characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
Hearing loss in noise exposure
Childhood body mass index
Sense of smell
Cannabis use
High fetal hemoglobin in sickle cell disease
Bone mineral density (Ward's triangle area)
Takayasu arteritis
Axial length
Corneal curvature
Change in intraocular pressure in response to steroid treatment (triamcinolone acetonide)
Thrombosis formation within a tissue or the vascular lumen of a thrombus, an aggregation of coagulated blood containing platelets, fibrin, and entrapped cellular elements
Psoriatic arthritis A syndrome that occurs in humans with psoriasis who also experience symptoms similar to arthritis.
Squamous cell carcinoma A carcinoma that derives_from squamous epithelial cells.
Basal metabolic rate
Ulcerative colitis A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores.
Body fat percentage
Alzheimer disease and age of onset
Epstein Barr virus nuclear antigen 1 IgG levels
Epstein Barr virus nuclear antigen 1 IgG levels or multiple sclerosis
Glucocorticoid-induced osteonecrosis (time dependent analysis)
Glucocorticoid-induced osteonecrosis (age 10 years and older)
Glucocorticoid-induced osteonecrosis
Post bronchodilator FEV1/FVC ratio
Longitudinal change in brain amyloid plaque burden
Hepatocellular carcinoma in hepatitis B infection
Classic bladder exstrophy
Sex hormone levels
Cannabis use (initiation)
IgA nephropathy
HIV-1 viral setpoint
Pediatric autoimmune diseases
Pulse pressure disease cluster belonging to disease group cardiovascular
Mean arterial pressure
Influenza A (H1N1) severity
Mild influenza (H1N1) infection
Influenza A (H1N1) infection
Severe influenza A (H1N1) infection
Ischemic stroke
Cerebrospinal fluid clusterin levels
Plasma clusterin levels
Cerebrospinal fluid clusterin levels in APOEe4- carriers
Response to Pazopanib in cancer (hepatotoxicity)
LDL peak particle diameter (total fat intake interaction)
Triptolide cytotoxicity
Liver fibrosis severity in HIV/hepatitis C co-infection
Thyroid-associated orbitopathy in graves' disease
Celiac disease and Rheumatoid arthritis
Diastolic blood pressure response to hydrochlorothiazide in hypertension
Systolic blood pressure response to hydrochlorothiazide in hypertension
Parkinson's disease (familial, age at onset)
Ideal cardiovascular health (clinical)
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 interval (sulfonylurea treatment interaction)
QT interval (sulfonylurea treatment interaction)
JT interval (sulfonylurea treatment interaction)
Clinical laboratory measurements
Cluster headache A type of headache characterized by repeated attacks of unilateral pain lasting 15 to 180 minutes and associated with local autonomic signs.
Pneumococcal bacteremia
Bacteremia An infection that has as part bacteria located in the blood.
Ischemic stroke (cardioembolic)
Verbal-numerical reasoning
Educational attainment
Reaction time
Gastroesophageal reflux disease Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER.
Migraine A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing.
Migraine without aura A migraine that is characterized by migraine headaches that are not accompanied by an aura.
Pathological gambling An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life.
Bone mineral density (hip) disease cluster belonging to disease group metabolic
Gestational age at birth (maternal effect)
Asparaginase-induced acute pancreatitis in acute lymphoblastic leukemia (onset time)
Gestational age at birth in premature rupture of membrane-initiated deliveries (maternal effect)
Sjogren's syndrome A hypersensitivity reaction type II disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva.
Chronotype
Morning vs. evening chronotype
EGFR mutation-positive lung adenocarcinoma
Sleep duration (oversleepers vs undersleepers)
Small intestine neuroendocrine tumor
Subcutaneous adipose tissue Adipose tissue which is found underneath the skin.
Pericardial adipose tissue adjusted for height and weight
Visceral adipose tissue adjusted for BMI
Pericardial fat
Visceral adipose tissue/subcutaneous adipose tissue ratio
Visceral adipose tissue/subcutaneous adipose tissue ratio adjusted for BMI
Visceral adipose tissue
Alcohol consumption
Alcohol consumption (heavy vs. light/non-drinkers)
Subcutaneous adipose tissue attenuation (Hounsfield unit scale)
Visceral adipose tissue attenuation (Hounslow unit scale)
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.
Extraversion A state in which attention is largely directed outward from the self.
Subjective well-being
Endometrial endometrioid carcinoma
Clozapine-induced agranulocytosis/granulocytopenia in treatment-resistant schizophrenia
Depression A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure.
Primary biliary cholangitis
Hemoglobin levels disease cluster belonging to disease group hematological
Postoperative atrial fibrillation in coronary artery bypass grafting surgery
Rotator cuff tears
Suicide behavior
Suicide ideation score in major depressive disorder
Suicide
Suicide attempts in major depressive disorder
Response to montelukast in asthma (change in FEV1)
Ear protrusion
Antitragus size
Ear morphology
Lobe size
Lobe attachment
Helix rolling
Folding of antihelix
Mucinous ovarian carcinoma
Metastasis at diagnosis in osteosarcoma
Soluble receptor for advanced glycation end-product levels
Atopic march
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.
Setpoint viral load in HIV-1 infection
Dysphagia Difficulty in swallowing.
Plasma homocysteine levels disease cluster belonging to disease group metabolic
Cholesterol, total
LDL cholesterol Cholesterol which is contained in or bound to low density lipoproteins (LDL), including CHOLESTEROL ESTERS and free cholesterol.
HDL cholesterol disease cluster belonging to disease group metabolic
Triglycerides
Response to interferon beta in multiple sclerosis
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.
Response to fenofibrate (LDL cholesterol levels)
Response to fenofibrate (HDL cholesterol levels)
Response to fenofibrate (total cholesterol levels)
Response to fenofibrate (triglyceride levels)
Parental extreme longevity (95 years and older)
middle facial morphology traits (quantitative measurement)
lower facial morphology traits (quantitative measurement)
facial morphology traits (multivariate analysis)
Hirschsprung disease
Severity of facial solar lentigines
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.
Developmental language disorder
Developmental language disorder (linguistic errors)
Developmental language disorder (syntactic complexity)
Lung cancer A respiratory system cancer that is located_in the lung.
Smoking status (current vs former)
Smoking behaviour (cigarettes smoked per day)
Lung adenocarcinoma A non-small cell lung carcinoma that derives_from epithelial cells of glandular origin.
Discordance in emotional problems in monozygotic twins
Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder
Cutaneous malignant melanoma disease cluster belonging to disease group cancer
Fentanyl consumption in laparoscopic-assisted colectomy (first 24 hours)
Left superior temporal gyrus thickness (schizophrenia interaction)
Anthracycline-induced cardiotoxicity in childhood cancer
Staphylococcus aureus nasal carriage (persistent)
Staphylococcus aureus nasal carriage (intermittent)
Diabetic kidney disease
Coronary artery aneurysm in Kawasaki disease
Cannabis dependence symptom count
Membranous nephropathy
Anti-thyroid drug induced agranulocytosis
Non-chemotherapy drug induced agranulocytosis
S-phenylmercapturic acid levels in smokers
Estrogen receptor status in HER2 negative breast cancer
Estrogen receptor status in breast cancer
Attention function in attention deficit hyperactive disorder
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)
Pre bronchodilator FEV1
Pre bronchodilator FEV1/FVC ratio
Urinary metabolites
Myositis An inflammatory process affecting the skeletal muscles. Causes include infections, injuries, and autoimmune disorders.|Inflammation of a muscle or muscle tissue.
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.
Postburn hypertrophic scarring severity
Bone mineral density (spine) and age at menarche
Bone mineral density (hip) and age at menarche
Soluble interleukin-2 receptor subunit alpha
Mitral valve prolapse A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Antipsychotic drug-induced weight gain
Antipsychotic drug-induced weight gain (time interaction)
Plasma lactate levels
Eating disorder in bipolar disorder
Bipolar disorder and eating disorder
Nicotine dependence
Carotid intima media thickness
Adiponectin levels
Adiponectin levels (BMI-adjusted)
Response to serotonin reuptake inhibitors in non-psychotic unipolar depression
Severe malaria disease cluster belonging to disease group infection
Cingulate cortical amyloid beta load
Longitudinal alcohol consumption
Juvenile osteochondritis dissecans
Corticobasal degeneration
Acute kidney injury in coronary artery bypass surgery (creatinine rise)
Joint damage progression in ACPA-negative rheumatoid arthritis
Cardiovascular disease in hypertension (ACE inhibitor interaction)
Cardiovascular disease in hypertension (calcium channel blocker interaction)
Myocardial infarction in hypertension (calcium channel blocker interaction)
Gastric adenocarcinoma (histologically verified)
Gait variability
Gait rhythm
Tandem gait
Neuropathic pain in type 2 diabetes
Rheumatoid factor seropositivity in rheumatoid arthritis
Major depressive disorder (stressful life events interaction)
Spherical equivalent (joint analysis main effects and education interaction)
Aggressiveness in attention deficit hyperactivity disorder
Myeloid white cell count
Loneliness
Loneliness (linear analysis)
Loneliness (multivariate analysis)
Optic cup area
Vertical cup-disc ratio
Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)
Basophil percentage of white cells
Small vessel stroke
Basophil percentage of granulocytes
Venous thromboembolism adjusted for sickle cell variant rs77121243-T
Resting heart rate
Creatinine levels
Urea levels
Waist-to-hip ratio adjusted for body mass index
Clopidogrel active metabolite levels
Response to clopidogrel therapy
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.
Carotid plaque burden
Gallbladder cancer A biliary tract cancer that is located_in the gallbladder.
Inflammatory bowel disease An intestinal disease characterized by inflammation located_in all parts of digestive tract.
Drug-induced liver injury (terbinafine)
Drug-induced hepatocellular liver injury
Drug-induced cholestatic/mixed liver injury
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.
Optic disc area
Intraocular pressure
Presence of antiphospholipid antibodies
Resistance to antihypertensive treatment in hypertension
Chronic bronchitis and chronic obstructive pulmonary disease
Chronic bronchitis in chronic obstructive pulmonary disease
Manganese levels
Molybdenum levels
Cadmium levels
Copper levels
Mercury levels
Lead levels
Zinc levels
Psoriasis vulgaris disease cluster belonging to disease group immune
Cutaneous psoriasis
Vascular endothelial growth factor levels
White matter hyperintensities in ischemic stroke
Vitamin D levels
Calcaneal bone ultrasound measurement (speed of sound)
Glaucoma (high intraocular pressure)
Anxiety disorder (factor score)
Inguinal hernia An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal.
Rapid functional decline in sporadic amyotrophic lateral sclerosis
Sex ratio
Triglyceride levels
Waist circumference The measurement around the body at the level of the ABDOMEN and just above the hip bone. The measurement is usually taken immediately after exhalation.
Waist circumference adjusted for body mass index
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.
Post bronchodilator FEV1 in COPD
Manic episodes in bipolar disorder
Depressive episodes in bipolar disorder
Depressive and manic episodes in bipolar disorder
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)
Yu-Zhi constitution type in type 2 diabetes
Response to simvastatin treatment (PCSK9 protein level change)
Response to inhaled glucocorticoid treatment in asthma (change in FEV1)
Longevity The length of time of an organism's life.
NT-proBNP levels in acute coronary syndrome
Eyebrow thickness
Scalp hair shape
Monobrow thickness
Hair greying
Beard thickness
Hair color Color of hair or fur.
Advanced age-related macular degeneration
Low high density lipoprotein cholesterol levels
Balding
Cerebral amyloid deposition (PET imaging)
Cognitive decline rate in late mild cognitive impairment
Periodontal disease-related phenotype (Socransky)
Periodontal disease related phenotype (PCT3)
Periodontal disease related phenotype (PCT5)
Betaine levels in individuals undergoing cardiac evaluation
Obstructive sleep apnea trait (apnea hypopnea index)
Obstructive sleep apnea (average oxygen saturation during sleep)
Obstructive sleep apnea trait (average respiratory event duration)
Response to cyclophosphamide in systemic lupus erythematosus with lupus nephritis
Congenital left-sided heart lesions
Incident coronary heart disease
Incident myocardial infarction
Survival in endocrine treated breast cancer (estrogen-receptor positive)
Response to zileuton treatment in asthma (FEV1 change interaction)
Bone mineral accretion in asthma (oral corticosteroid dose interaction)
Paclitaxel-induced cytotoxicity
Pyoderma gangrenosum in inflammatory bowel disease
Erythema nodosum in inflammatory bowel disease
Exudative age-related macular degeneration
Myasthenia gravis OMIM mapping confirmed by DO. [SN].
Subcortical brain region volumes
Ischemic stroke (large artery atherosclerosis)
Ischemic stroke (small artery occlusion)
Ischemic stroke (undetermined subtype)
White matter hyperintensity burden
Systolic blood pressure (cigarette smoking interaction)
Thoracic-to-hip circumference ratio
Cerebral amyloid deposition in APOEe4 non-carriers (PET imaging)
Cerebrospinal fluid p-Tau181p:AB1-42 ratio
Cerebral amyloid deposition positivity (PET imaging)
Exploratory eye movement dysfunction in schizophrenia (responsive search score)
Exploratory eye movement dysfunction in schizophrenia (number of eye fixations)
antipsychotic drug dosage in schizophrenia or schizoaffective disorder
Glomerular filtration rate in non diabetics (creatinine)
Glomerular filtration rate in diabetics (creatinine)
Glomerular filtration rate (cystatin C)
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.
Glomerular filtration rate (creatinine)
Exploratory eye movement dysfunction in schizophrenia (cognitive search score)
Obsessive-compulsive symptoms
Serum lycopene concentrations
Early response to risperidone in schizophrenia
Perioperative myocardial infarction in coronary artery bypass surgery
Blond vs non-blond hair color
Brown vs. non-brown hair color
Light vs. dark hair color
Red vs non-red hair color disease cluster belonging to disease group developmental
Black vs. non-black hair color
Cognitive function
Motion sickness OMIM mapping confirmed by DO. [SN].
Response to Homoharringtonine (cytotoxicity)
C-reactive protein levels in ischemic stroke
Fibrinogen levels in ischemic stroke
Platinum-induced myelosuppression in non-small cell lung cancer
Total ventricular volume (Alzheimer's disease interaction)
Entorhinal cortical thickness
Entorhinal cortical volume
Whole-brain volume
Hippocampal volume Measurement of the volume of the hippocampus
Entorhinal cortical thickness (Alzheimer's disease interaction)
Total ventricular volume
Entorhinal cortical volume (Alzheimer's disease interaction)
Whole-brain volume (Alzheimer's disease interaction)
Alzheimer's disease or small vessel stroke
Response to anti-TNF therapy in rheumatoid arthritis
World class endurance athleticism
Forced expiratory volume in 1 second (occupational environmental exposures interaction)
Calcium levels
Serum alpha1-antitrypsin levels
Urinary albumin-to-creatinine ratio in diabetes
Urinary albumin-to-creatinine ratio in non-diabetics
Urinary albumin-to-creatinine ratio
Dementia and core Alzheimer's disease neuropathologic changes
Neurofibrillary tangles Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Neuritic plaque
Kidney stones
Microalbuminuria
Lewy body disease
Vascular brain injury
Hippocampal sclerosis
Cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
Proteinuria in chronic kidney disease
Glomerular filtration rate in chronic kidney disease
Proteinuria and chronic kidney disease
Pediatric areal bone mineral density (radius)
Pediatric bone mineral content (radius)
Low bone mineral density (spine)
Low bone mineral density (hip)
Colorectal or endometrial cancer
Skin colour saturation
Perceived skin darkness
Skin sensitivity to sun The response of human skin to sun exposure.
Obesity in adult survivors of childhood cancer exposed to cranial radiation
Obesity in adult survivors of childhood cancer not exposed to cranial radiation
Magnesium levels
Lachrymal/Salivary gland lesion in type 1 autoimmune pancreatitis
Cough in response to angiotensin-converting enzyme inhibitor drugs
Nickel levels
Chromium levels
Cobalt levels
Aluminium levels
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.
IgG1 response to Plasmodium falciparum antigen (GLURP)
IgG response to Plasmodium falciparum antigens (GLURP, MSP2 FC27, MSP2 3D7)
Glioblastoma
Non-glioblastoma glioma
Glioma
Adenocarcinoma A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures.|A malignant epithelial tumor with a glandular organization.
Early childhood aggressive behavior
Middle childhood and early adolescence aggressive behavior
Childhood and early adolescence aggressive behavior
Colorectal cancer (oestrogen-progestogen hormone therapy interaction)
Body mass index (age interaction)
Airway imaging phenotypes
Emphysema imaging phenotypes
Percentage gas trapping
Progression free survival in metastatic colorectal cancer (CAPOX-B vs CAPOX-B plus cetuximab)
Asparaginase hypersensitivity in acute lymphoblastic leukemia
Lapatinib-induced hepatotoxicity
Multiple myeloma and monoclonal gammopathy
Sporadic pituitary adenoma
Peak creatinine levels in vancomycin therapy
Breast size Is a quantification of some aspect of breast size
Photic sneeze reflex
Hypothyroidism A deficiency of thyroid hormone.
Chin dimples
Allergy
Childhood ear infection
Depressive symptoms (stressful life events interaction)
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.
Palmitoleic acid (16:1n-7) levels
Vaccenic acid (18:1n-7) levels
Oleic acid (18:1n-9) levels
Gondoic acid (20:1n-9) levels
Executive inhibition (Stroop WIT and CIT) in attention deficit hyperactivity disorder
Body mass index (change over time) in gastrointestinal cancer or chronic obstructive pulmonary disease
Body mass index (change over time) in cancer or chronic obstructive pulmonary disease
Body mass index (change over time) in lung cancer
Body mass index (change over time) in gastrointestinal cancer
Body mass index (change over time) in chronic obstructive pulmonary disease
Body mass index (change over time) in lung cancer or chronic obstructive pulmonary disease
Body mass index (change over time) in cancer
Essential tremor A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms.
Night sleep phenotypes
Hepatocellular carcinoma in post hepatitis C eradication by interferon therapy
Acute-on-chronic liver failure in hepatitis B
Emotional dysregulation
Thyroid cancer An endocrine gland cancer located_in the thryoid gland located in the neck below the thyroid cartilage.
Carotenoid levels (alpha-carotene)
Circulating chromogranin peptide levels
CTACK levels
Growth-regulated protein alpha levels
Eotaxin levels
Gut microbiota (bacterial taxa)
Menarche (age at onset) disease cluster belonging to disease group reproduction
Age at voice drop
Prostate-specific antigen levels
Prostate-specific antigen levels (conditioned on lead SNPs)
Monobrow
Myopia A refractive error in which rays of light entering the EYE parallel to the optic axis are brought to a focus in front of the RETINA when accommodation (ACCOMMODATION, OCULAR) is relaxed. This results from an overly curved CORNEA or from the eyeball being too long from front to back. It is also called nearsightedness.
Nose size
Joint mobility (Beighton score)
Systolic blood pressure (long-term average)
Diastolic blood pressure (long-term average)
Mean arterial pressure (long-term average)
Paneth cell defects in Crohn's disease
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.
Alzheimer's disease (APOE e4 interaction)
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe ocular complications
Serum galactose-deficient IgA1 levels
Multiple system atrophy (pathologically confirmed)
Multiple system atrophy OMIM mapping confirmed by DO. [LS].
Post traumatic stress disorder symptom count in trauma-exposed individuals
Alcohol misuse (trauma interaction)
Adiponectin levels in pregnancy
Body fat mass
Spine bone mineral density and alcohol drinking
Osteoarthritis (with total hip replacement)
Bortezomib-induced peripheral neuropathy in multiple myeloma
Immune response to measles vaccine (measles-specific neutralising antibody titre)
Immune response to measles vaccine (measles-induced IFN gamma)
Urinary 1,3-butadiene metabolite levels in smokers
Skin pigmentation Coloration of the skin.
Systemic sclerosis
Vasculitis associated with antineutrophil cytoplasmic antibody reactive to myeloperoxidase
Antineutrophil cytoplasmic antibody-associated vasculitis
Isovolumetric relaxation time
Peak velocity of the mitral A-wave
Left ventricle diastolic internal dimension
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
Ratio of the peak velocity of the mitral E-Wave divided by the peak velocity of the mitral A-wave.
Left ventricular mass disease cluster belonging to disease group cardiovascular
Left ventricular fractional shortening
Liver injury in anti-retroviral drug treated HIV
Liver injury in combined anti-retroviral and anti-tuberculosis drug-treated HIV with tuberculosis
Daytime sleep phenotypes
QRS duration QRS duration is a measurement of the combined duration of the Q, R and S waves of the human heart's electric cycle
QRS complex (12-leadsum)
QRS complex (Cornell)
QRS complex (Sokolow-Lyon)
Liver injury in anti-tuberculosis drug treatment
Methadone dose in opioid dependence
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).
Self-reported tiredness
Trans-epidermal water loss
Interleukin-2 receptor antagonist levels
Platelet-derived growth factor BB levels
Macrophage inflammatory protein 1b levels
Immunoglobulin light chain (AL) amyloidosis
Opioid dependence disease cluster belonging to disease group chemdependency
Gut microbiota (functional units)
QT interval (tricyclic/tetracyclic antidepressant use interaction)
RR interval (tricyclic/tetracyclic antidepressant use interaction)
Incident atrial fibrillation
Prevalent atrial fibrillation
Exhaled nitric oxide output
Exhaled nitric oxide levels disease cluster belonging to disease group other
Nicotine metabolite ratio
Lung function (FEV1)
Rheumatoid arthritis (rheumatoid factor and/or anti-cyclic citrullinated peptide seropositive)
Protein C levels
Gallstone disease
Interleukin-18 levels
Interleukin-17 levels
Interleukin-7 levels
Interleukin-13 levels
Interleukin-10 levels
Stem cell growth factor beta levels
TRAIL levels
Endometriosis The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
Ovarian disease with few adhesions
Deep ovarian and/or rectovaginal disease with dense adhesions
Plasma thyroid-stimulating hormone levels
Small cell lung carcinoma An anaplastic, highly malignant, and usually bronchogenic carcinoma composed of small ovoid cells with scanty neoplasm. It is characterized by a dominant, deeply basophilic nucleus, and absent or indistinct nucleoli. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1286-7)|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.|A highly aggressive subtype of lung carcinoma characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis. (NCI05)
Lung cancer in ever smokers
Lung cancer in never smokers
Nonalcoholic steatohepatitis-derived hepatocellular carcinoma
Heart rate variability traits (RMSSD)
Heart rate variability traits (SDNN)
Heart rate variability traits (pvRSA/HF)
Autism spectrum disorder or schizophrenia
Testicular germ cell tumor
Insomnia complaints
Insomnia complaints (continuous)
Insomnia complaints (dichotomous)
Major depression and alcohol dependence
Extrinsic epigenetic age acceleration
Intrinsic epigenetic age acceleration
Problematic alcohol use in trauma-exposed individuals
Facial emotion recognition
Facial emotion recognition (happy faces)
Facial emotion recognition (sad faces)
Facial emotion recognition (angry faces)
Facial emotion recognition (fearful faces)
Late-onset Alzheimer's disease
Vaso-occlusive pain in sickle-cell anemia
Menopause (age at onset) disease cluster belonging to disease group reproduction
Heart rate The number of times the HEART VENTRICLES contract per unit of time, usually per minute.
Food allergy A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system.
Peanut allergy
Hen's egg allergy
Allergic disease (asthma, hay fever or eczema)
Paclitaxel disposition in epithelial ovarian cancer
Carboplatin disposition in epthelial ovarian cancer
Alcohol consumption over the past year
Colorectal adenoma (advanced)
Diastolic blood pressure x sodium interaction (1df test)
Systolic blood pressure x sodium interaction (2df test)
Diastolic blood pressure x sodium interaction (2df test)
Mean arterial pressure x sodium interaction (2df test)
Juvenile idiopathic arthritis (oligoarticular or rheumatoid factor-negative polyarticular)
Lipoprotein(a) levels adjusted for apolipoprotein(a) isoforms
Cerebrospinal fluid t-tau levels
Age-related macular degeneration (SNP x mitochondrial G12771A interaction)
Verbal memory performance (immediate recall change)
Verbal memory performance (residualized delayed recall level)
Pediatric non-alcoholic fatty liver disease activity score
Liver fibrosis in pediatric non-alcoholic fatty acid liver disease
Pediatric nonalcoholic steatohepatitis
Fear of pain
Disturbances of the gamma-frequency band of electroencephalography measures in schizophrenia
Fear of minor pain
Hepatocellular carcinoma in hepatitis C infection
Atopy
Primary biliary cirrhosis A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts.
Alcohol consumption in current drinkers
Amyotrophic lateral sclerosis (sporadic)
Graves' disease An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland.
Hashimoto thyroiditis
Autoimmune thyroid diseases (Graves disease or Hashimoto's thyroiditis)
IgG bisecting N-acetyl glucosamine phenotypes (multivariate analysis)
IgG sialylation phenotypes (multivariate analysis)
IgG galactosylation phenotypes (multivariate analysis)
IgG disialylation phenotypes (multivariate analysis)
IgG monogalactosylation phenotypes (multivariate analysis)
IgG monosialylation phenotypes (multivariate analysis)
IgG digalactosylation phenotypes (multivariate analysis)
IgG fucosylation phenotypes (multivariate analysis)
Neuroblastoma (11q deletion)
Neuroblastoma (MYCN amplification)
Shingles
Chickenpox A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.
Cold sores
Mumps A viral infectious disease that results_in inflammation located_in salivary gland, has_material_basis_in Mumps virus, which is transmitted_by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted_by contaminated fomites. The infection has_symptom fever, has_symptom headache, has_symptom muscle aches, has_symptom tiredness, has_symptom loss of appetite, has_symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face.
Plantar warts
Preterm birth (maternal effect) (maternal pre-pregnancy BMI interaction)
Spontaneous preterm birth (maternal effect)
Knee osteoarthritis
Yeast infection
Myringotomy
Bacterial meningitis
Urinary tract infection frequency
Hepatitis A A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice.
Strep throat
Mononucleosis
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.
Scarlet fever An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash.
Pneumonia A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing.
1,5-anhydroglucitol levels
Squamous cell lung carcinoma
Cerebral blood flow
Gut microbiota (beta diversity)
Attention deficit hyperactivity disorder symptom score
Diabetes in response to antihypertensive drug treatment (treatment strategy interaction)
Resistin levels
Hepcidin/transferrin saturation ratio
Hepcidin/ferritin ratio
Hepcidin levels
Otitis media A otitis which involves inflammation of the middle ear.
Otitis media (chronic)
Otitis media (recurrent)
Emphysema distribution in smoking
Kidney disease (end stage renal disease vs non-end stage renal disease) in type 1 diabetes
Kidney disease (end stage renal disease vs normoalbuminuria) in type 1 diabetes
Chronic kidney disease (severe chronic kidney disease vs normal kidney function) in type 1 diabetes
Kidney disease (early and late stages) in type 1 diabetes
HIV progression (CD4 and viral load)
Response to platinum-based neoadjuvant chemotherapy in cervical cancer
L-arginine levels
B-cell malignancies (chronic lymphocytic leukemia, Hodgkin lymphoma or multiple myeloma) (pleiotropy)
Nonsyndromic cleft lip with or without cleft palate disease cluster belonging to disease group developmental
Plasma t-tau levels
Primary sclerosing cholangitis
Pediatric bone mineral content (femoral neck)
Pediatric bone mineral density (femoral neck)
Pediatric bone mineral density (spine)
Pediatric bone mineral content (spine)
Pediatric bone mineral density (hip)
Interferon gamma-induced protein 10 levels
Macrophage Migration Inhibitory Factor levels
Monocyte chemoattractant protein-1 levels
Interleukin-12p70 levels
Interleukin-16 levels
Systolic blood pressure change trajectory
Idiopathic osteonecrosis of the femoral head
Early-onset Parkinson's disease
Vitamin B12 levels
Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)
Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)
Systolic blood pressure x smoking status (ever vs never) interaction (2df test)
Diastolic blood pressure x smoking status (ever vs never) interaction (1df test)
Obstructive sleep apnea during REM sleep (apnea hypopnea index)
Severe malaria (adjusted for sickle cell variant rs334)
Progression free survival in serous epithelial ovarian cancer treated with carboplatin and paclitaxel
Overall survival in serous epithelial ovarian cancer treated with paclitaxel and cisplatin
Tooth agenesis A tooth disease characterized by failure to develop on or more missing teeth.
Tooth agenesis (mandibular second premolars)
Tooth agenesis (maxillary lateral incisors)
Tooth agenesis (maxillary second premolars)
Systolic blood pressure (dietary potassium intake interaction)
Nasopharyngeal carcinoma
Nodular sclerosis Hodgkin lymphoma
Mixed cellularity Hodgkin lymphoma
Hodgkin's lymphoma A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell.
Colonoscopy-negative controls vs population controls
Smoking status (heavy vs light)
Caudate activity during reward
White matter microstructure in first episode schizophrenia (right posterior cingulate cortex)
Total mean fractional anisotropy measurement in first episode schizophrenia
White matter microstructure in first episode schizophrenia (left posterior cingulate cortex)
White matter microstructure in first episode schizophrenia (left inferior parietal cortex)
Abnormal white matter microstructure in first episode schizophrenia (multivariate analysis)
White matter microstructure in first episode schizophrenia (left anterior cingulate cortex)
White matter microstructure in first episode schizophrenia (right anterior cingulate cortex)
Craniofacial microsomia
Estrone conjugates/estrone ratio in resected early stage estrogen-receptor positive breast cancer
Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer
Plasma estrone levels in resected estrogen-receptor positive breast cancer
Plasma androstenedione levels in resected early stage-receptor positive breast cancer
Plasma estrone conjugates levels in resected early stage estrogen-receptor positive breast cancer
Facial morphology (factor 3, length of philtrum)
Motor development (prenatal lead exposure interaction)
Mental development (prenatal lead exposure interaction)
Borderline personality disorder A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods.
Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (continuous)
Resistance to Mycobacterium tuberculosis in HIV-positive individuals measured by a negative tuberculin skin test (dichotomous)
Rate of cognitive decline in mild cognitive impairment (time interaction)
Anorexia nervosa (excluding migration to or from binge-eating disorder or bulimia nervosa)
Facial morphology (factor 17, height of vermillion upper lip)
Neurocognitive impairment in HIV-1 infection (continuous)
HIV-associated neurocognitive disorder (mild neurocognitive disorder or asymptomatic neurocognitive impairment)
HIV-associated neurocognitive disorder (mild neurocognitive disorder)
HIV-associated neurocognitive disorder
Neurocognitive impairment in HIV-1 infection (dichotomous)
HIV-associated neurocognitive disorder (asymptomatic neurocogntive impairment)
Facial morphology (factor 9, facial height related to vertical position of nasion)
Peripheral arterial disease (traffic-related air pollution interaction)
Facial morphology (factor 22)
Aggressive periodontitis A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium.
Weight
Lean body mass
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)
Trunk fat mass
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.
Hip circumference adjusted for BMI
Red blood cell density in sickle cell anemia
Obstetric antiphospholipid syndrome
Cocaine use disorder
Cocaine use disorder x non-traditional parental care interaction
Cocaine use disorder x change in residence interaction
Cocaine use disorder x household tobacco use interaction
Diastolic blood pressure response to thiazide and thiazide-like diuretics in hypertension
Systolic blood pressure response to thiazide and thiazide-like diuretics in hypertension
Apolipoprotein A1 levels
Urinary metabolite levels in chronic kidney disease
Graft survival time in renal transplantation (donor effect)
Graft survival time in renal transplantation (donor effect) x APOL1 genotype interaction
Salivary metabolite levels
Cardioembolic stroke (CCSp classification)
Cardioembolic stroke (TOAST classification)
Cardioembolic stroke (CCS and TOAST classification)
Cardioembolic stroke (CCS or TOAST classification)
Large artery stroke (CCSp classification)j
Large artery stroke (TOAST classification)
Large artery stroke (CCS and TOAST classification)
Large artery stroke (CCS or TOAST classification)
Small vessel stroke (CCSp classification)
Small vessel stroke (CCS and TOAST classification)
Small vessel stroke (CCS or TOAST classification)
Cardioembolic stroke (CCSc classification)
Gout (combined type)
Gout (normal type)
Femoral neck bone mineral density
Trunk fat mass adjusted for trunk lean mass
Femoral neck bone mineral density and trunk fat mass adjusted by trunk lean mass
Idiopathic downbeat nystagmus
Eosinophilic granulomatosis with polyangiitis (ANCA negative)
Eosinophilic granulomatosis with polyangiitis
Bilirubin levels
Relative fat intake
Relative protein intake
Relative carbohydrate intake
Relative sugar intake
Carotid intima media thickness (mean)
Carotid intima media thickness (maximum)
Aortic valve area
Hematological and biochemical traits
Physiological traits
Cholesterol
Lung function disease cluster belonging to disease group other
Machado-Joseph disease (age at onset)
TPE interval (resting)
TPE interval (response to exercise)
TPE interval (recovery after exercise)
Serum immune biomarker levels
Cerebrospinal fluid immune biomarker levels
Obsessive compulsive disorder severity
Compulsion score in obsessive compulsive disorder
Obsession score in obsessive compulsive disorder
Brain imaging measurements (variance)
Meat-related diet
Pork consumption
Poultry consumption
Raw vegetable consumption
Serum alkaline phosphatase levels
Gamma glutamyl transferase levels
Childhood maltreatment
Diastolic blood pressure x quantitative lifestyle risk score interaction (1df test)
Diastolic blood pressure x quantitative lifestyle risk score interaction (2df test)
Diastolic blood pressure x dichotomous lifestyle risk score interaction (1df test)
Diastolic blood pressure x dichotomous lifestyle risk score interaction (2df test)
Systolic blood pressure x quantitative lifestyle risk score interaction (1df test)
Systolic blood pressure x quantitative lifestyle risk score interaction (2df test)
Systolic blood pressure x dichotomous lifestyle risk score interaction (1df test)
Systolic blood pressure x dichotomous lifestyle risk score interaction (2df test)
Adult onset Still's disease
Heel bone mineral density
Fractures
Vertical cup-disc ratio (adjusted for vertical disc diameter)
Vertical cup-disc ratio (multi-trait analysis)
Apolipoprotein B levels
BMI at adiposity peak
Age at adiposity rebound
BMI at adiposity rebound
Fish- and plant-related diet
Beef consumption
Bipolar disorder or body mass index
Bipolar disorder or type 2 diabetes
Coronary artery disease in type 1 diabetes
Processed meat consumption
Oily fish consumption
Non-oily fish consumption
Lamb consumption
Fruit consumption
Cooked vegetable consumption
Mosaic loss of chromosome Y (Y chromosome dosage)
Voxel-wise structural brain imaging measurements in Alzheimer’s disease
Metopic nonsyndromic craniosynostosis
Cerebral cortex AV-45 amyloid PET measurement
Smoking initiation (ever regular vs never regular)
Urinary metabolite modules (eigenmetabolites) in chronic kidney disease
Hallux valgus Lateral deviation of the great toe (i.e., in the direction of the little toe).
Lipoprotein (a) levels in response to niacin in statin-treated individuals
HDL cholesterol change in response to niacin in statin-treated individuals
Rapid automised naming and rapid alternating stimulus test performance
Latent naming speed
Rapid automised naming of letters
Rapid alternating stimulus test for letters/numbers
Thoracic aortic calcification levels
Abdominal aortic calcification levels
Knee pain
Age-related hearing impairment (low/mid frequency)
Age-related hearing impairment (high frequency)
Hypotension and cognitive impairment
Proliferative diabetic retinopathy
Chronic postoperative pain
Type 2 diabetes (adjusted for BMI)
Anxiety Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Anxiety disorders
Low density lipoprotein cholesterol levels
Parkinson's disease or first degree relation to individual with Parkinson's disease
LDL cholesterol levels x short total sleep time interaction (2df test)
LDL cholesterol levels x long total sleep time interaction (2df test)
Triglyceride levels x long total sleep time interaction (2df test)
HDL cholesterol levels x short total sleep time interaction (2df test)
Disability (impaired activities of daily living)
Cutaneous melanoma or hair colour
Nevus count or cutaneous melanoma
Eosinophilic esophagitis An esophagitis characterized by inflammation involving eosinophils located_in esophagus.
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.
Glaucoma (multi-trait analysis)
Heart failure
Intracerebral hemorrhage bleeding within the cerebrum
Hypertriglyceridemia A condition of elevated levels of TRIGLYCERIDES in the blood.
High fasting blood glucose
Low HDL-cholesterol levels
Metabolic syndrome
Refractive error
Serum metabolite levels (CMS)
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.
Serum sclerostin levels
Protein level change in low calorie diet obesity intervention
Retinal detachment OMIM mapping confirmed by DO. [SN].
Retinal detachment or retinal break
Retinal detachment with retinal break
Protein levels in obesity
Cataracts (operation)
Cortical thickness Is a quantification of the thickness of brain cortex, e.g. measured by MRI, used in the diagnosis of Alzheimer's disease.
Youthful appearance (self-reported)
Smoking initiation initation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Smoking cessation Discontinuation of the habit of smoking, the inhaling and exhaling of tobacco smoke.
Smoking status (current vs never)
Smoking status (current vs mixed)
Plasma free amino acid levels (adjusted for one other PFAA)
Body fat distribution (trunk fat ratio)
Non-del(5q) myelodysplastic syndromes
NASH resolution in nonalcoholic steatohepatitis
Pruritus in nonalcoholic steatohepatitis
Skin pigmentation (conditioned on rs1426654 and rs35397)
Occipital lobe volume
Parietal lobe volume
Temporal lobe volume
Stress urinary incontinence
Triglyceride levels x short total sleep time interaction (2df test)
HDL cholesterol levels x long total sleep time interaction (1df test)
Triglyceride levels x short total sleep time interaction (1df test)
HDL cholesterol levels x short total sleep time interaction (1df test)
LDL cholesterol levels x long total sleep time interaction (1df test)
LDL cholesterol levels x short total sleep time interaction (1df test)
Idiopathic pulmonary fibrosis Chronic and progressive fibrosis of the lung parenchyma of unknown cause.
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
Proportion of activated microglia (inferior temporal cortex)
Proportion of activated microglia (midfrontal cortex)
JT interval
Activity variability during wake
Sleep duration (> 10 hours)
Sleep (1/2-day periodicity)
Sleep start time
Sleep (1/3-day periodicity)
Sleep end time
Sleep (1-day periodicity)
Sleep activity levels
Plasma free amino acid levels (adjusted for twenty other PFAAs)
Corneal astigmatism
Refractive astigmatism
Lifetime anxiety disorder
Cerebrospinal fluid sTREM-2 levels
Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis
Two-hour glucose
Impaired insulin sensitivity in response to n-3 PUFA supplementation
LDL cholesterol levels x loop diuretics use interaction
Triglyceride levels x loop diuretics use interaction
Cortical surface area (visual PC2)
HDL cholesterol levels x thiazide or thiazide-like diuretics use interaction
LDL cholesterol levels x thiazide or thiazide-like diuretics use interaction
Triglyceride levels x thiazide or thiazide-like diuretics use interaction
HDL cholesterol levels x loop diuretics use interaction
Interleukin-6 receptor subunit alpha levels
C-X-C motif chemokine 10 levels
CCL24 levels
MHC class I polypeptide-related sequence A levels
CD40 ligand levels
CXCL5 levels
kallikrein-11 levels
epithelial cell adhesion molecule levels
interleukin 17 receptor B levels
interleukin 12 receptor subunit beta-1 levels
vascular endothelial growth factor D levels
E-selectin levels
melanoma-derived growth regulatory protein levels
CCL19 levels
Cortical surface area (global PC1)
Post-bronchodilator lung function in asthma (FVC)
Lung function (FVC) in asthma
Post-bronchodilator lung function in asthma (FEV1/FVC)
LDL cholesterol x physical activity interaction (1df test)
HDL cholesterol x physical activity interaction (1df test)
Response to (pegylated) interferon in HBeAg-negative hepatitis B
Response to (pegylated) interferon in HBeAG-positive hepatitis B
Response to (pegylated) interferon in chronic hepatitis B
HDL cholesterol levels x long total sleep time interaction (2df test)
Levodopa wearing off effect (time symptoms uncontrolled) in Parkinson's disease (response to zonisamide)
COVID-19 (critical illness vs population)
Mastocytosis (KIT D816V positive)
Testosterone levels x fluid intelligence interaction
Body fat distribution (leg fat ratio)
Body fat distribution (arm fat ratio)
Plasma free amino acid levels
Plasma free proline levels
Plasma free asparagine levels
High density lipoprotein cholesterol levels
Physiological dysregulation (Mahalanobis distance)
Hand grip strength (Mahalanobis distance)
Smoking status (heavy vs never)
Lung function in heavy smokers (low FEV1 vs high FEV1)
Lung function in never smokers (high FEV1 vs average FEV1)
Lung function in heavy smokers (high FEV1 vs average FEV1)
Lung function (low FEV1 vs high FEV1)
Lung function in never smokers (low FEV1 vs average FEV1)
Lung function in never smokers (low FEV1 vs high FEV1)
B-cell acute lymphoblastic leukaemia
B-cell acute lymphoblastic leukaemia (high-hyperdiploidy)
Circulating leptin levels in high cardiovascular risk
Circulating leptin levels x sex interaction in high cardiovascular risk
Hippocampal atrophy rate
Circulating leptin levels or fasting insulin levels
Circulating leptin levels or HOMA-B
Circulating leptin levels or HOMA-IR
Circulating leptin levels or type 2 diabetes
Complement factor H binding to malondialdehyde
Response to antiepileptic drugs in genetic generalized epilepsy
Response to valproic acid in genetic generalized epilepsy
Response to lamotrigine in genetic generalized epilepsy
Response to levetiracetam in genetic generalized epilepsy
Response to lamotrigine and valproic acid in genetic generalized epilepsy
White matter hyperintensities
White matter integrity (fractional anisotropy)
White matter integrity (mean diffusivity)
Eye color Color of the iris.
Eye color (brightness)
Eye color (saturation)
Eye color (hue)
Skin, hair and eye pigmentation (multivariate analysis)
Thyroid autoantibody positivity (anti-thyroglobulin (TgAb) and/or anti-thyroid peroxidase (TPOAb) levels)
Anti-chlamydia trachomatis IgG seropositivity
Dietary macronutrient intake
Coronary artery disease in diabetes
General cognitive ability
Dysmenorrheic pain severity
Menstruation quality of life impact (dysmenorrhea)
Pain medicine use during menstruation
Menstruation quality of life impact (fever)
Response to long-chain n-3 polyunsaturated fatty acid supplementation (change in triglyceride levels)
Café-au-lait macule number in neurofibromatosis type1
Mucinous adenocarcinoma in colorectal cancer
End-stage renal disease
End stage renal disease x APOL1 genotype interaction
End stage renal disease in APOL1 risk genotype-negative individuals
Delta-5 desaturase activity response to n3-polyunsaturated fat supplement
Delta-6 desaturase activity response to n3-polyunsaturated fat supplement
Hepatitis B surface antigen seroclearance in chronic hepatitis B infection
Penicillin allergy
Systolic blood pressure night-to-day ratio in hypertension
Diastolic blood pressure night-to-day ratio in hypertension
Elevated fasting plasma glucose
Parkinson's disease (age of onset) disease cluster belonging to disease group neurological
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.
Change in serum metabolite levels
Change in serum metabolite levels (CMS)
Decreased low contrast letter acuity in multiple sclerosis
Glucagon levels in response to oral glucose tolerance test (decremental area under the curve for 0-30 minutes)
HDL cholesterol x physical activity interaction (2df test)
LDL cholesterol x physical activity interaction (2df test)
Nonunion in individuals with fractures
Opioid use cessation
Acute respiratory distress syndrome in sepsis
Estimated glomerular filtration rate
Serum creatinine levels
Allergic rhinitis A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites.
Allergic sensitization
Type 1 diabetes in high risk HLA genotype individuals (time to event)
Type 1 diabetes autoantibodies in high risk HLA genotype individuals (time to event)
Freckles Disorders of increased melanin pigmentation that develop without preceding inflammatory disease.
Double-edged eyelids
Thick vs thin eyebrows
Straight vs curly hair
Excessive hairiness
Excessive sweating
Age spots
Household income (MTAG)
Cerebrospinal fluid α-synuclein levels
Self-reported risk-taking behaviour
Alzheimer's disease (onset between ages 58 and 79)
Alzheimer's disease (onset at age over 80)
Low tan response
Rosacea symptom severity
Neuromyelitis optica A central nervous system disease characterized by acute neuritis located_in eye and demyelination located_in optic nerve and located_in spinal cord.
Neuromyelitis optica (AQP4-IgG-positive)
Plasma proprotein convertase subtilisin/kexin type 9 levels in stable coronary artery disease
Spherical equivalent or myopia (age of diagnosis)
Aseptic loosening in total joint arthroplasty
Optic disc size
Lactose tolerance test
Uric acid levels
Blood glucose levels
Severe aplastic anemia
Cryptosporidiosis A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection.
Gynecologic disease
Gynecologic disease (multivariate analysis)
Cervical cancer A female reproductive organ cancer that is located_in the cervix.
Cervical cancer (MTAG)
Ovarian cancer (MTAG)
Prostate cancer (early onset)
Prostate cancer (advanced)
Cerebrospinal fluid beta-site APP cleaving enzyme levels
Current cigarettes per day in chronic obstructive pulmonary disease
Plasma neurofilament light levels
Non-melanoma skin cancer
Circulating odd-numbered chain saturated fatty acid levels (C17:0)
Disease free survival in colon cancer
Survival in colon cancer
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.
Optic nerve head parameters (multi-trait analysis)
Intraocular pressure and central corneal thickness (multi-trait analysis)
Frontotemporal dementia with GRN mutation (age at onset)
Behavioural changes in frontotemporal lobe dementia
Memory dysfunction in frontotemporal lobe dementia
Frontotemporal dementia (age at onset)
Language impairment in frontotemporal lobe dementia
Parkinsonism in frontotemporal lobe dementia
Frontotemporal dementia with GRN mutation
Parkinson's disease in GBA mutation carriers
Uric acid elevation in response to thiazide-like diuretic in hypertension
Hallucinations in long-term cannabis use
Bone mineral content
Bone mineral density
Central retinal vein equivalent
Central retinal arteriolar equivalent
Cerebrospinal fluid neurofilament light levels
Diabetic macular edema in type 2 diabetes
Proliferative diabetic retinopathy in type 2 diabetes
Uterine fibroids disease cluster belonging to disease group unknown
Uterine fibroids (MTAG)
Ovarian cancer A female reproductive organ cancer that is located_in the ovary.
Opioid use disorder
Airflow obstruction in ever smokers
Blood protein levels in cardiovascular risk
Cirrhosis
Cutaneous squamous cell carcinoma disease cluster belonging to disease group cancer
Complete remission in asthma
Short-term memory (visuospatial task)
Long-term memory (delayed word recall task)
Dermatomyositis or juvenile dermatomyositis
Polymyositis
Idiopathic inflammatory myopathy
Serum total polyunsaturated fatty acid concentration in metabolic syndrome
Serum linoleic acid concentration in metabolic syndrome
Serum omega-3 polyunsaturated fatty acid concentration in metabolic syndrome
Serum omega-6 to omega-3 polyunsaturated fatty acid ratio in metabolic syndrome
Serum omega-6 polyunsaturated fatty acid concentration in metabolic syndrome
Serum polyunsaturated fatty acid concentration x sex interaction in metabolic syndrome
Serum docosahexaenoic fatty acid concentration in metabolic syndrome
Serum polyunsaturated fatty acid concentration x Mediterranean diet adherence interaction in metabolic syndrome
Urate levels
Memory decline disease cluster belonging to disease group aging
Alcohol consumption (drinks per week)
Coffee consumption Behaviors associated with the ingesting of coffee
Green tea consumption
Milk consumption
Yoghurt consumption
Natto consumption
Tofu consumption
Midgestational total 25-hydroxyvitamin D levels (maternal genetic effect)
Neonatal total 25-hydroxyvitamin D levels (maternal genetic effect)
Midgestational total 25-hydroxyvitamin D levels (fetal genetic effect)
Neonatal total 25-hydroxyvitamin D levels (fetal genetic effect)
Fish intake frequency
Alcohol consumption (drinkers vs non-drinkers)
Response to ketogenic dietary therapies in epilepsy
Drug-induced liver injury in interferon-beta-treated multiple sclerosis
Basal ganglia growth
White matter growth
Cerebellum growth
Cerebral cortical growth
Right lateral prefrontal cortical growth
Huntington's disease (age at onset)
Coronary heart disease
Diabetes mellitus A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.|A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.
Type 1 diabetes disease cluster belonging to disease group immune
Urinary calcium excretion
Urinary magnesium excretion
Urinary uric acid excretion
Reading disability
Serum cancer antigen 19.9 levels
Serum cancer antigen 125 (CA 125) levels
Schizophrenia (MTAG)
Osteoporosis-related phenotypes (MTAG)
Clozapine-induced myocarditis in schizophrenia
Urinary volume
Insulin-related traits (multivariate analysis)
Eczema
Cleft lip with or without cleft palate x maternal periconceptional alcohol use interaction (parent of origin effect)
Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect)
Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect)
Serum folate levels
Serum alpha-fetoprotein levels
Serum carcinoembryonic antigen levels
Serum cancer antigen 15.3 levels
Osteoarthritis of the hand
Leukocyte telomere length
Post bronchodilator percent predicted FEV1 in smoking
Post bronchodilator FEV1/FVC ratio in smoking
Electrocardiogram morphology (amplitude at temporal datapoints)
Thyroid nodules
Thrombocytopenia in coronary artery bypass surgery
Midgestational cytokine/chemokine levels (maternal genetic effect)
Neonatal cytokine/chemokine levels (maternal genetic effect)
Midgestational cytokine/chemokine levels (fetal genetic effect)
Neonatal cytokine/chemokine levels (fetal genetic effect)
Iris color (a* coordinate)
Iris color (L* coordinate)
Iris heterochromicity
Iris color (b* coordinate)
General factor of neuroticism
tricyclic pyrone compound response (IC50)
Confectionary intake
Plasma factor VII activating protease levels
Adverse response to antithyroid drugs in Graves disease
Morning person
Glioblastoma (age-stratified)
Worry/vulnerability (special factor of neuroticism)
Anxiety/tension (special factor of neuroticism)
Vestibular neuritis
Plasma parathyroid hormone levels
Cognitive flexibility
Aspartate aminotransferase levels
Rumination (response to stress)
Brooding (response to stress)
Reflection (response to stress)
3-month functional outcome in ischaemic stroke (modified Rankin score)
3-month functional outcome in non-lacunar ischaemic stroke (modified Rankin score)
3-month functional outcome in lacunar ischaemic stroke (modified Rankin score)
Chronic central serous retinopathy
Neutrophil level response to clozapine in treatment-resistant schizophrenia
Severe aortic features in Marfan syndrome
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.
Ewing sarcoma A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms. -- 2004|A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.|A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)|A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.
Leisure-time exercise behaviour
Leisure-time exercise behaviour (age-stratified)
Glomerular filtration rate change in heart transplantation
Energy expenditure
Energy intake Total number of calories taken in daily whether ingested or by parenteral routes.
Femoral neck length
Narrowest width of the femoral neck
Femoral neck section modulus
Alanine aminotransferase levels
cognitive impairment (MMSE score) in Parkinson’s disease
Response to antidepressants (symptom improvement)
Remission after antidepressant treatment in major depression
Shoulder impingement or rotator cuff tear
Shoulder impingement
Non-Richardson's syndrome vs Richardson's syndrome in progressive supranuclear palsy
Sudden cardiac arrest
Warfarin maintenance dose (adjusted for clinical factors)
Bronchopulmonary dysplasia in preterm infants
Gemcitabine-induced early high-grade neutropenia in pancreatic cancer
Response to dolutegravir (body weight gain)
Cortical volume
Body mass index and systolic blood pressure (bivariate analysis)
Systolic blood pressure and diastolic blood pressure (bivariate analysis)
Body mass index and diastolic blood pressure (bivariate analysis)
Gut microbiota relative abundance (Prevotella)
Gut microbiota relative abundance (Bifidobacterium)
Gut microbiota relative abundance (Bacteroides)
Gut microbiota relative abundance (Streptococcus)
Gut microbiota relative abundance (unclassified genus belonging to family Clostridiaceae)
Gut microbiota relative abundance (Parabacteroides)
Gut microbiota relative abundance (Ruminococcus belonging to family Erysipelotrichaceae)
Gut microbiota relative abundance (unclassified genus belonging to family Lachnospiraceae)
Gut microbiota relative abundance (Blautia)
Airway obstruction (FEV1/FVC<70%) in never smokers
Airway obstruction (FEV1/FVC<lower limit of normal) in never smokers
Emphysema annual change measurement in smokers (adjusted lung density)
Emphysema annual change measurement in smokers (percent low attenuation area)
Meningococcal C functional antibody titers post childhood immunization
Lipoprotein (a) levels in coronary artery disease (percutaneous coronary intervention)
Hepatitis C (spontaneous viral clearance)
Anti-drug antibodies in autoimmune disease (time to event)
Obsessive-compulsive traits
Mitochondrial DNA copy number (white blood cells)
Mitochondrial DNA copy number
Psychological distress disease cluster belonging to disease group psych
Breakfast cereal skipping frequency
Breakfast skipping
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.
Opioid overdose severity score
Multisite chronic pain
Medial temporal lobe substructure volumes
Glomerular filtration rate in type 2 diabetes
Glomerular filtration rate in diabetes
Early diabetic kidney disease in type 2 diabetes
Diabetic kidney disease in type 2 diabetes
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.
Osteoarthritis (hip)
Osteoarthritis of the hip or knee
Gut microbiota relative abundance (Sutterella)
Gut microbiota relative abundance (Faecalibacterium)
Gut microbiota relative abundance (Oscillospira)
Gut microbiota relative abundance (unclassified genus belonging to family Erysipelotrichaceae)
Gut microbiota relative abundance (unclassified genus belonging to the order Clostridiales)
Gut microbiota relative abundance (Eubacterium belonging to family Erysipelotrichaceae)
Gut microbiota alpha diversity (Chao1 index)
Gut microbiota alpha diversity (PD_whole_tree index)
Gut microbiota relative abundance (unclassified genus belonging to family Ruminococcaceae)
Gut microbiota relative abundance (Ruminococcus belonging to family Lachnospiraceae)
Gut microbiota relative abundance (unassigned genus belonging to family Clostridiales)
Gut microbiota alpha diversity (Shannon index)
Gut microbiota relative abundance (Coprococcus)
Gut microbiota relative abundance (Dorea)
Gut microbiota relative abundance (unassigned genus belonging to family Lachnospiraceae)
Gut microbiota beta diversity (weighted UniFrac distance)
Rapid automised naming of pictures
Rapid automised naming of digits
Short-term memory (digit-span task)
Non-word reading non-word reading is the complex cognitive process of decoding symbols in order to derive that they do not form meaningful words
Word spelling
Phoneme awareness
Word reading word reading is the complex cognitive process of decoding symbols in order to construct or derive meaningful words
Blood cell traits (multivariate analysis)
Thyroid stimulating hormone levels
Bitter non-alcoholic beverage consumption
Bitter alcoholic beverage consumption
Tea consumption
Myeloproliferative neoplasms disease cluster belonging to disease group cancer
Non-HDL cholesterol levels
Walking pace
Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)
Severe skin toxicity response to cetuximab in colorectal cancer
Sedentary behaviour duration
Physical activity (walking duration)
Physical activity (moderate intensity activity duration)
Physical activity (overall physical activity time)
Thiopurine-induced early leukopenia in Crohn's disease
Fasting blood proinsulin levels
Insulinogenic index
Insulin disposition index
Proinsulin levels (late-phase conversion)
Proinsulin levels (early-phase conversion)
Fasting blood glucose
Hemoglobin A1c levels
Coffee consumption (cups per day)
Cortical surface area disease cluster belonging to disease group neurological
Adverse response to chemotherapy (amenorrhea) in breast cancer
Carbamazepine-induced reaction with eosinophilia and systemic symptoms
Carbamazepine-induced serious cutaneous adverse reaction
Annualised percent change of cerebrospinal fluid AB1-42 levels
Serum oxytocin levels
Order dimension in obsessive compulsive disorder
Sensation seeking
Lack of perseverance
Impulsivity
Impulsivity (attentional)
Lack of premeditation
Positive urgency
Impulsivity (motor)
Negative urgency
Impulsivity (non-planning)
Drug experimentation measurement
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.
Type 2 diabetes nephropathy including microalbuminuria
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.
Thyrotoxic periodic paralysis Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Keratoconus A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape.
Body fat percentage and type 2 diabetes (pairwise)
Body mass index and HDL-C (pairwise)
Body fat percentage and triglycerides (pairwise)
Body fat percentage and HDL-C (pairwise)
Body fat percentage and fasting glucose (pairwise)
Body fat percentage and LDL-C (pairwise)
Body fat percentage and fasting insulin (pairwise)
Body fat percentage and coronary artery disease (pairwise)
Body mass index and LDL-C (pairwise)
Body mass index and triglycerides (pairwise)
Body mass index and fasting insulin (pairwise)
Body mass index and fasting glucose (pairwise)
Left–right brain asymmetry
Rotator cuff injury
Body mass index and type 2 diabetes (pairwise)
Waist-hip ratio and HDL-C (pairwise)
Waist-hip ratio and LDL-C (pairwise)
Waist-hip ratio and triglycerides (pairwise)
Waist-hip ratio and systolic blood pressure (pairwise)
Waist-hip ratio and coronary artery disease (pairwise)
Body mass index and systole blood pressure (pairwise)
Body mass index and coronary artery disease (pairwise)
Waist-hip ratio and type 2 diabetes (pairwise)
Odorant perception
Drug-induced liver injury (isoniazid-containing anti-tuberculosis drugs)
Liver fibrogenesis (alpha smooth muscle actin levels)
Liver fibrosis (total hepatic collagen content)
Myeloperoxidase-DNA complexes
Urinary albumin excretion disease cluster belonging to disease group metabolic
T-Cell Immunoglobulin and Mucin domain 1 levels
Ambidextrousness
Left-handedness
Cognitive performance in schizophrenia or bipolar disorder
Depression in multiple sclerosis (pre-diagnosis)
Depression in multiple sclerosis (post-diagnosis)
Depression in multiple sclerosis
Shigella-associated diarrhea
Systolic blood pressure (education interaction)
Diastolic blood pressure (education interaction)
Central serous retinopathy
Skeletal muscle index
Asthma (moderate or severe)
Fulminant type 1 diabetes
Podoconiosis
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
Postherpetic neuralgia
Chronic pain Persistent pain, usually defined as pain that has laster longer than 3 to 6 months.
Hypo-HDL-cholesterolemia
Hypertrophic cardiomyopathy (sarcomere positive)
Hypertrophic cardiomyopathy A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).|A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
Hypertrophic cardiomyopathy (sarcomere negative)
Cervical high-risk human papilloma virus infection (persistent)
Cervical high-risk human papilloma virus infection
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.
Pancreatic ductal adenocarcinoma x smoking interaction
Low hand grip strength (60 years and older) (EWGSOP)
Low hand grip strength (60 years and older) (FNIH)
Estrone-3-glucuronide levels
Chronic lymphocytic leukemia (time to first treatment)
smoking initiation in schizophrenia
Cigarettes smoked per day in Schizophrenia
Childhood asthma exacerbations in long-acting beta2-agonist treatment
Vegetable consumption
Rocuronium dose requirement in breast cancer surgery
Beta blocker survival benefit in heart failure with reduced ejection fraction (time to all cause mortality x beta blocker interaction)
Estimated glomerular filtration rate (creatinine, Rapid3)
Estimated glomerular filtration rate (creatinine, CKDi25)
Metamizole-induced agranulocytosis or neutropenia
Metamizole-induced agranulocytosis
Type 1 diabetes (age at diagnosis)
Orofacial clefts disease cluster belonging to disease group developmental
Aortic vascular smooth muscle cell calcification in response to osteogenic stimuli
Aortic vascular smooth muscle cell proliferation in response to IL-1 beta
Body composition traits
Serum type 1 collagen metabolite levels
Serum total cholesterol levels
Type 2 diabetes or prostate cancer (pleiotropy)
Pediatric central nervous system tumors (early onset)(pleiotropy)
Pediatric central nervous system tumors (late onset)(pleiotropy)
Pediatric central nervous system tumors (pleiotropy)
Response to immune checkpoint inhibitors in melanoma (immune-related adverse events)
Tuberculosis susceptibility in HIV infection
Waist-to-hip ratio adjusted for BMI
Bell's palsy A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve).
Skin reflectance (Melanin index)
Eye morphology
Chin morphology
Nose morphology
Achilles tendon injury
Tinnitus Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
RR interval (heart rate) disease cluster belonging to disease group cardiovascular
Asthma (adult onset)
Asthma (childhood onset) disease cluster belonging to disease group immune
Thyroglobulin plasma levels
Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)
Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)
Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy)
Tinnitus in cisplatin-treated testicular cancer
Voxel-wise structural brain imaging measurements
Calcaneus stiffness index
Visceral fat
Facial attractiveness (male raters)
Facial attractiveness (female raters)
Peginterferon alfa-2a treatment response in chronic hepatitis B infection
Alcohol use disorder
Executive function (trail making test B)
perceptual and visual search speed (trail making test A) (age interaction)
Depression in smokers
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.
Asthma onset (childhood vs adult)
Postoperative survival time in hepatocellular carcinoma
Lumbar spine bone mineral density (trabecular)
Lumbar spine bone mineral density (integral)
Estimated glomerular filtration rate after 1 year in renal transplantation (donor effect)
Estimated glomerular filtration rate after 5 years in renal transplantation (recipient effect)
Estimated glomerular filtration rate after 5 years in renal transplantation (donor effect)
Estimated glomerular filtration rate change in renal transplantation (recipient effect)
Estimated glomerular filtration rate change in renal transplantation (donor effect)
Estimated glomerular filtration rate after 1 year in renal transplantation (recipient effect)
Diarrhoea-associated Entamoeba histolytica infection
Carotid plaque maximum area
Maximum stenosis
Sum of carotid plaque area
Mean area of carotid plaque
Mean degree of stenosis
Sum of stenosis
Response to hepatitis B vaccine
Coronary artery calcification Calcification, that is, pathological deposition of calcium salts, affecting the coronary arteries.
Cardiovascular disease in type 2 diabetes
Adiponectin levels x Mediterranean diet adherence interaction
Visceral fat, circulating phospholipid PC(16:0/2:0) and white matter microstructure (shared variance)
BMI x environmental factors (including physical activity) interaction
BMI x environmental factors (excluding physical activity) interaction
Fever and diarrhea in mesalamine-treated irritable bowel disease
Facial morphology traits (63 three-dimensional facial segments)
Diabetic peripheral neuropathy in type 2 diabetes
Sick sinus syndrome Xref MGI.
Cardiovascular event in colchicine-treated recent myocardial infarction (time to event)
Relapse in treatment-naive multiple sclerosis (time to event)
Oxidized LDL cholesterol levels
Breast cancer in BRCA2 mutation carriers
Brain-derived neurotrophic factor levels
Extranodal natural killer T-cell lymphoma (nasal type)
Childhood onset ulcerative colitis
Macular thickness
Response to cognitive-behavioural therapy in anxiety and major depressive disorders
Response to cognitive-behavioural therapy in anxiety disorder
Response to cognitive-behavioural therapy in major depressive disorder
Fragile X syndrome A neurodegenerative disease that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in a loss of FMR1 function.
Daytime nap
Mental health related quality of life
Physical health related quality of life
Rapid response to perioperative phenylephrine (change in mean arterial pressure)
Rapid response to perioperative phenylephrine (change in systolic blood pressure)
Glaucoma (low intraocular pressure)
Kleine-Levin syndrome A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.
Low myopia
Mitochondrial heteroplasmy measurement
ghrelin levels
Low myopia vs hyperopia
HOMA-B (corrected for HOMA-IR)
Lacunar stroke
Persistent hepatitis B virus infection
Chronic hepatitis B infection vs asymptomatic persistence
Hepatitis B virus-related hepatocellular carcinoma vs chronic hepatitis B infection
Hepatitis B virus-related hepatocellular carcinoma vs hepatitis B virus-related decompensated cirrhosis
DDT metabolite (p,p'-DDE levels)
Hyperopia
Triglyceride levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder
HDL levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder
LDL levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder
Total cholesterol levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder
Triglyceride levels x SSRI levels (escitalopram or citalopram) interaction in schizophrenia or bipolar disorder
BMI x SSRI levels interaction in schizophrenia or bipolar disorder
HDL levels x SSRI levels interaction in schizophrenia or bipolar disorder
LDL levels x SSRI levels interaction in schizophrenia or bipolar disorder
Total cholesterol levels x SSRI levels interaction in schizophrenia or bipolar disorder
BMI x SSRI defined daily dose interaction in schizophrenia or bipolar disorder
HDL levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder
LDL levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder
HDL levels x fish oil supplementation interaction (2df)
Total cholesterol levels x fish oil supplementation interaction (2df)
HDL levels x fish oil supplementation interaction (1df)
Total cholesterol levels x fish oil supplementation interaction (1df)
Triglyceride levels x fish oil supplementation interaction (1df)
LDL levels x fish oil supplementation interaction (1df)
Triglyceride levels x fish oil supplementation interaction (2df)
LDL levels x fish oil supplementation interaction (2df)
Total cholesterol levels x SSRI defined daily dose interaction in schizophrenia or bipolar disorder
Clostridioides difficle infection in antibiotics-users
Clostridioides difficle infection
Obstructive sleep apnea A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep.
Obstructive sleep apnea (BMI adjusted)
Inflammatory skin disease
Blood pressure (smoking interaction)
Superior frontal gyrus grey matter volume
White matter microstructure (global fractional anisotropy)
Conduct disorder (symptom count)
Conduct disorder A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated.
Clubfoot OMIM mapping confirmed by DO. [SN].
Response to radiotherapy in cancer (late toxicity)
Renal function and chronic kidney disease disease cluster belonging to disease group renal
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.
Glycated hemoglobin levels
Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)
Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)
Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)
Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid)
Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid)
Toenail selenium levels
Blood and toenail selenium levels
Sepsis from pneumonia (survival)
Vitamin B levels in ischemic stroke
Electroencephalogram traits
Resting oxygen saturation in chronic osbtructive pulmonary disease (pulse oxymetry)
Mitochondrial DNA levels
Acute lymphoblastic leukemia (childhood) disease cluster belonging to disease group cancer
Glucose homeostasis traits
Asymmetrical dimethylarginine levels
Symmetrical dimethylarginine levels
Suicide attempts in depression or bipolar disorder
Asthma (corticosteroid response)
CD4:CD8 lymphocyte ratio
CD8-positive T-lymphocyte count
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.
Digestive system disease (Barrett's esophagus and esophageal adenocarcinoma combined)
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.
Longevity (90 years and older)
Serum IgA levels
Pulmonary artery enlargement and chronic obstructive pulmonary disease
Pulmonary artery enlargement in chronic obstructive pulmonary disease
Autism spectrum disorder-related traits
Laryngeal squamous cell carcinoma A laryngeal carcinoma that has_material_basis_in squamous cells.
Age-related cataracts
Age-related cataracts (age at onset)
Longevity (85 years and older)
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.
Breast cancer (survival)
Hemoglobin A2 levels in sickle cell anemia
Lipid traits
Hearing function
Osteoarthritis biomarkers
Obesity-related traits disease cluster belonging to disease group metabolic
Fibrinogen disease cluster belonging to disease group metabolic
Autism A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-IV)|An autism spectrum disease that is a disorder of neural development characterized by impaired social interaction and communication, and by restricted and repetitive behavior observed in children before a child is three years old.
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
Thrombin generation potential phenotypes
Nicotine use
Illicit drug use
Behavioural disinhibition (generation interaction)
Non-substance related behavioral disinhibition
Glycemic traits (pregnancy)
C-reactive protein levels
Pulse pressure (alcohol consumption interaction)
Systolic blood pressure (alcohol consumption interaction)
Diastolic blood pressure (alcohol consumption interaction)
Mean arterial pressure (alcohol consumption interaction)
Acne (severe)
Autoimmune hepatitis type-1
Pulse pressure in young-onset hypertension
Birth length
Infant length
Alzheimer's disease (age of onset)
Anger
Serum thyroid-stimulating hormone levels
Esophageal cancer A gastrointestinal system cancer that is located_in the esophagus.
Medication adherence in chronic diseases
Episodic memory Type of declarative memory, consisting of personal memory in contrast to general knowledge.
Urinary bladder cancer An urinary system cancer that results_in malignant growth located_in the urinary bladder.
Plasma homocysteine levels (post-methionine load test)
Red blood cell traits
Morphine dose requirement in tonsillectomy and adenoidectomy surgery
Chronic obstructive pulmonary disease (moderate to severe)
Chronic obstructive pulmonary disease (severe)
Preschool internalizing problems
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.
Asthma (sex interaction)
Urinary albumin excretion rate in type 1 diabetes
Breast cancer (early onset)
Chronic periodontitis
Blood pressure (anthropometric measures interaction)
Blood pressure PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Osteoarthritis (hand, severe)
IgE levels
Response to inhaled corticosteroid treatment in asthma (change in FEV1)
Antinuclear antibody levels
Response to statin therapy disease cluster belonging to disease group pharmacogenomic
Response to antipsychotic therapy (extrapyramidal side effects) disease cluster belonging to disease group pharmacogenomic
Obsessive-compulsive disorder An anxiety disorder characterized by recurrent, persistent obsessions or compulsions. Obsessions are the intrusive ideas, thoughts, or images that are experienced as senseless or repugnant. Compulsions are repetitive and seemingly purposeful behavior which the individual generally recognizes as senseless and from which the individual does not derive pleasure although it may provide a release from tension.
Acute urticaria and angioedema (non-steroidal anti-inflammatory drug-induced)
Creatine kinase levels in statin users
Breastfeeding duration
Pneumoconiosis in silica exposure
Iron status biomarkers
Soluble leptin receptor levels
Inflammatory biomarkers
Cervical artery dissection
Fetal hemoglobin levels in sickle cell anemia
Airway responsiveness in chronic obstructive pulmonary disease
Inflammatory biomarkers in Kawasaki disease
Bronchodilator response in asthma (inhaled corticosteroid treatment interaction)
Free thyroxine concentration
Thyroid peroxidase antibody positivity
Pulmonary emphysema
Methotrexate clearance (acute lymphoblastic leukemia)
IgA levels
Lupus nephritis in systemic lupus erythematosus
Osteoprotegerin levels
Response to antipsychotic treatment disease cluster belonging to disease group pharmacogenomic
Exfoliation glaucoma or exfoliation syndrome
Response to taxane treatment (paclitaxel)
Response to taxane treatment (docetaxel)
Non-alcoholic fatty liver disease histology (other)
Breast cancer (menopausal hormone therapy interaction)
Lobular breast cancer (menopausal hormone therapy interaction)
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.
Type 2 diabetes (young onset) and obesity
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.
Hippocampal sclerosis of aging age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus
Openness
Conscientiousness
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.
Cognitive decline (age-related)
Personality traits in bipolar disorder
Drug-induced torsades de pointes
Alcohol dependence (age at onset)
Hypospadias A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.
Interferon alpha levels in systemic lupus erythematosus
Hepatic lipid content in extreme obesity
Bilirubin levels in extreme obesity
Chronic mucus hypersecretion
Amyloid A serum levels
Plasma amyloid beta peptide concentrations (ABx-40)
Plasma amyloid beta peptide concentrations (ABx-42)
Amyotrophic lateral sclerosis or frontotemporal dementia
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.
Fractional exhaled nitric oxide (childhood)
Bipolar disorder (body mass index interaction)
Response to protease inhibitor treatment in hepatitis c (bilirubin toxicity)
Response to protease inhibitor treatment in hepatitis c (peak serum total bilirubin levels)
Response to diuretic therapy in hypertension
Thyroid peroxidase antibody levels
Kidney function decline traits
Immune response to measles-mumps-rubella vaccine
Kashin-Beck disease
Methotrexate pharmacokinetics (acute lymphoblastic leukemia)
Enteric fever
Cerebrospinal fluid levels of Alzheimer's disease-related proteins
Generalized epilepsy disease cluster belonging to disease group other
Apolipoprotein Levels
Cholesterol and Triglycerides
PCA3 expression level
Sleep-related phenotypes
Otitis media (chronic/recurrent)
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.
End-stage renal disease in Type 1 diabetics
Bone mineral density (paediatric, upper limb)
Bone mineral density (paediatric, lower limb)
Bone mineral density (paediatric, total body less head)
Bone mineral density (paediatric, skull)
Acute anterior uveitis (with or without ankylosing spondylitis)
Colorectal cancer (calcium intake interaction)
Myopia (pathological) disease cluster belonging to disease group vision
Parent of origin effect on language impairment (paternal)
Reading disability or specific language impairment (pleiotropy)
Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy)
Blood pressure (age interaction)
Opioid sensitivity
Response to temozolomide
Birth weight The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.
Psychosis (atypical)
Height adjusted BMI
Homocysteine levels
Recombination measurement
Puberty onset (genital enlargement)
Puberty onset (breast development)
Puberty onset disease cluster belonging to disease group developmental
Response to cytidine analogues (gemcitabine)
Response to cytadine analogues (cytosine arabinoside)
Ossification of the posterior longitudinal ligament of the spine A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.
Electrocardiographic traits disease cluster belonging to disease group cardiovascular
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.
Recombination measurement (females)
Recombination measurement (males)
Cocaine dependence A drug dependence that is a psychological dependency on the regular use of cocaine.
Narcolepsy A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work.
Schizophrenia or bipolar disorder
Response to statins (LDL cholesterol change)
Glioma (high-grade) disease cluster belonging to disease group cancer
Fibrinogen levels (smoking status, alcohol consumption or body mass index interaction)
Diabetic retinopathy in type 2 diabetes disease cluster belonging to disease group renal
Crohn's disease-related phenotypes
Airway wall thickness
Mixed cryoglobulinemia vasculitis in chronic hepatitis C infection
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).
Cystic fibrosis-related diabetes
Social autistic-like traits
Androgen levels disease cluster belonging to disease group other
Response to platinum-based chemotherapy in non-small-cell lung cancer
Smoking behavior Inhaling and exhaling the smoke of tobacco or something similar to tobacco.
C-reactive protein disease cluster belonging to disease group immune
Adverse response to radiation therapy
Carotid plaque burden (smoking interaction)
Paclitaxel-induced neuropathy
Serum lipase activity
High serum lipase activity
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.
Cerebrospinal AB1-42 levels in Alzheimer's disease dementia
Tourette's syndrome or obsessive-compulsive disorder
Asthma and hay fever
Conotruncal heart defects
IgE levels in asthmatics
IgE levels in asthmatics (D.p. specific)
IgE levels in asthmatics (D.f. specific)
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).
Chronic hepatitis C infection disease cluster belonging to disease group infection
Hepatitis B vaccine response
Pain An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS.
Lung function (forced vital capacity)
AIDS progression disease cluster belonging to disease group infection
Allergic dermatitis (nickel)
Lung Cancer (DNA repair capacity)
Sleep time measurement of the time at which sleep begins
Sleep quality self-reported quality of sleeping
Epithelial ovarian cancer disease cluster belonging to disease group cancer
Cleft plate (environmental tobacco smoke interaction)
Clozapine-induced cytotoxicity
Stroke (ischemic)
Beta-2 microglubulin plasma levels
Serum dimethylarginine levels (asymmetric/symetric ratio)
Serum vitamin D-binding protein levels
Rheumatoid arthritis (ACPA-negative)
Mathematical ability in children with dyslexia
Body mass (lean) disease cluster belonging to disease group metabolic
Cardiac Troponin-T levels
Glaucoma (primary angle closure)
Exhaled carbon monoxide levels
Asthma or chronic obstructive pulmonary disease
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).
Body mass index (change over time)
Lipoprotein (a) - cholesterol levels
Serum VEGFR2 concentration
Fractional exhaled nitric oxide levels
Pulmonary function in asthmatics
Metabolite levels
Red wine liking
White wine liking
Alzheimer's disease in APOE e4- carriers
Alzheimer's disease in APOE e4+ carriers
Survival in rectal cancer
Survival in microsatellite instability low/stable colorectal cancer
Schizophrenia (inflammation and infection response interaction)
Bipolar disorder (inflammation and infection response interaction)
Sitting height ratio
Spontaneous preterm birth (preterm birth)
Spontaneous preterm birth (preterm delivery)
Insulin resistance/response
Underweight status
Overweight status
Schizophrenia (treatment resistant)
Response to serotonin reuptake inhibitors in major depressive disorder (plasma drug and metabolite levels)
Bladder cancer (smoking interaction)
Cotinine glucuronidation
Nicotine glucouronidation
Response to radiotherapy in prostate cancer (toxicity)
Mammographic density (dense area)
Mammographic density (non-dense area)
Percent mammographic density
Left inferior lateral ventricle volume (Cerebrospinal fluid biomarker status interaction)
Urgency urinary incontinence
White matter integrity White matter integrity is a measure of brain white matter using brain imaging and quantification techniques. White matter integrity is used as a measure of CNS function.
White matter integrity (bipolar disorder risk interaction)
Cytomegalovirus antibody response
Thoracic aortic aneurysms and dissections
Protein biomarker
Lipid metabolism phenotypes
Acute lymphoblastic leukemia (B-cell precursor)
Functional impairment in major depressive disorder, bipolar disorder and schizophrenia
Myopia (severe)
Febrile seizures Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two.
Febrile seizures (MMR vaccine-unrelated)
Febrile seizures (MMR vaccine-related)
Mesial temporal lobe epilepsy with hippocampal sclerosis
Personality dimensions
Elevated serum carcinoembryonic antigen levels
Binge eating behaviour in bipolar disorder
Binge eating behaviour and bipolar disorder
Epilepsy A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.|A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).|A disorder characterized by recurrent seizures
Lung cancer (smoking interaction)
Multiple cancers (lung cancer, gastric cancer, and squamous cell carcinoma)
Complement C3 and C4 levels
Anti-saccade response
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.
PR segment duration
Spine bone size Spine bone size is a measurement of the dimensions of the spine.
Response to methotrexate in juvenile idiopathic arthritis
Cognitive decline
Systemic lupus erythematosus and Systemic sclerosis
Response to methotrexate in rheumatoid arthritis
Airway hyperresponsiveness one of the primary characteristics of asthma, characterised by easily triggered increased airway smooth muscle contractility
Heschl's gyrus morphology
Very long-chain saturated fatty acid levels (fatty acid 20:0)
Very long-chain saturated fatty acid levels (fatty acid 22:0)
Very long-chain saturated fatty acid levels (fatty acid 24:0)
Age-related nuclear cataracts
Acute lymphoblastic leukemia (adolescents and young adults)
Plasma renin activity levels
Number of children (6+ vs. 0 or 1)
Number of children
Antibody level in response to infection
Number of pregnancies
Alloimmunization response to red blood cell transfusion in sickle cell anemia
Urate levels in lean individuals
Urate levels (BMI interaction)
Urate levels in overweight individuals
Urate levels in obese individuals
Maximal oxygen uptake response
Colorectal cancer (aspirin and/or NSAID use interaction)
HIV-1 susceptibility
Disease-free survival in breast cancer
Parkinson disease and lewy body pathology
Response to platinum-based chemotherapy (carboplatin)
Response to platinum-based chemotherapy (cisplatin)
Reading and spelling
Non-word repetition
Job-related exhaustion
Body mass index (SNP x SNP interaction)
Phosphorus levels
Eosinophilic esophagitis (pediatric) disease cluster belonging to disease group other
Factor VIII levels
Factor VII levels disease cluster belonging to disease group hematological
vWF levels
Bipolar disorder (mania)
Cannabis dependence A drug dependence that involves the continued use of cannabis despite problems related to use of the substance.
Plasminogen activator inhibitor type 1 levels (PAI-1)
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.
Bipolar I disorder A bipolar disorder that is characterized by at least one manic or mixed episode.
Alzheimer's disease biomarkers
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 1 peripheral neuropathy)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 2 peripheral neuropathy)
Response to anti-retroviral therapy (ddI/d4T) in HIV-1 infection (Grade 3 peripheral neuropathy)
Plasma cystastin c levels in acute coronary syndrome
Electrodermal activity
Response to haloperidol in psychosis
Paget's disease
Urinary metabolites (H-NMR features)
Marginal zone lymphoma
Hashimoto thyroiditis versus Graves' disease
Diabetic nephropathy in type 1 diabetes
Bipolar disorder with mood-incongruent psychosis
Sensory disturbances after bilateral sagittal split ramus osteotomy
Reading or mathematical ability
Colorectal cancer (diet interaction)
Social communication problems
Contrast sensitivity
B-type natriuretic peptide levels
Tooth agenesis (third molar)
Large artery stroke stroke caused by the blockage of blood flow in one of the large arteries feeding the brain
Coronary artery disease or ischemic stroke
PR interval in Tripanosoma cruzi seropositivity
Ejection fraction in Tripanosoma cruzi seropositivity
Coronary artery disease or large artery stroke
Local histogram emphysema pattern
Aortic stiffness disease cluster belonging to disease group cardiovascular
Multiple sclerosis or amyotrophic lateral sclerosis
IgG levels
Retinal arteriolar caliber
Blood pressure measurement (cold pressor test)
Blood pressure measurement (low sodium intervention)
Blood pressure measurement (high sodium intervention)
Blood pressure measurement (high sodium and potassium intervention)
Self-reported allergy
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.
Schizophrenia, schizoaffective disorder or bipolar disorder
Congenital heart disease OMIM mapping confirmed by DO. [SN].
Endothelial growth factor levels
Congenital left-sided heart lesions (maternal effect)
Response to Dalcetrapib treatment in acute coronary syndrome
Allergic rhinitis in asthma
Red blood cell fatty acid levels
Response to platinum-based agents
Response to antidepressants disease cluster belonging to disease group psych
Cleft lip
Hepatitis C induced liver fibrosis
Sex hormone-binding globulin levels
Systolic blood pressure in sickle cell anemia
Disc degeneration (lumbar)
Fat body mass The weight of the individual's body fat.
Follicle stimulating hormone levels
Hormone measurements
Bone properties (heel)
Hereditary hemochromatosis-related traits (HFE mutation homozygotes)
Fasting plasma glucose (childhood)
Esophageal squamous cell carcinoma A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor.
Urinary uromodulin levels
Seasonality
Bronchodilator response in asthma
Response to alcohol consumption (flushing response)
Alcohol consumption (max-drinks)
Response to antidepressant treatment (citalopram)
Cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
Hand grip strength
Sasang constitutional medicine type (So-Eum)
Information processing speed
Total bilirubin levels in HIV-1 infection
Neutrophil count in HIV-infection
HDL Cholesterol in HIV-infection
Vein graft stenosis in coronary artery bypass grafting
Response to serotonin reuptake inhibitors in major depressive disorder
Cytokine-stimulated IL-6 production
Cytokine and corticosteroid-stimulated IL-6 production
Carotid artery intima media thickness (sex interaction)
Polychlorinated biphenyl levels
Mood disorder and prion disease
Behavioral disturbance or psychiatric symptoms and prion disease
Psychotic symptoms in prion disease
Mood disorder in prion disease
Behavioral disturbance or psychiatric symptoms in prion disease
Developmental dysplasia of the hip
Suicide in bipolar disorder
Yang-deficiency constitution
Diisocyanate-induced asthma
Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)
Pharmacokinetics of antipsychotic drugs in severe mental disorder (concentration drug ratio)
Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio)
Lifespan
Type 1 diabetes and autoimmune thyroid diseases
Ticagrelor levels in individuals with acute coronary syndromes treated with ticagrelor
AR-C124910XX levels in individuals with acute coronary syndromes treated with ticagrelor
Recalcitrant atopic dermatitis
Prostate cancer aggressiveness
Anxiety disorder A cognitive disorder that involves an excessive, irrational dread of everyday situations.
Creutzfeldt-Jakob disease (sporadic)
ADAMTS13 activity
Non-small cell lung cancer (survival)
Serum IgE levels disease cluster belonging to disease group immune
Serum tamsulosin hydrochloride concentration
Ferritin levels
Leishmaniasis (visceral)
Sagittal craniosynostosis A kind of craniosynostosis affecting the sagittal suture.
Serum total protein levels
Serum albumin levels
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.
Cataracts in type 2 diabetes
Chronic obstructive pulmonary disease-related biomarkers
Musician's dystonia
Breast cancer (estrogen-receptor negative, progesterone-receptor negative, and human epidermal growth factor-receptor negative)
Gray matter volume (schizophrenia interaction)
Alcohol and nicotine co-dependence
Food antigen IgG levels
Obesity (early onset extreme) disease cluster belonging to disease group metabolic
Anterior chamber depth
Lung cancer (SNP x SNP interaction)
Plasma plasminogen levels
Expressive vocabulary in infants
Vogt-Koyanagi-Harada syndrome disease cluster belonging to disease group immune
Iron status biomarkers (transferrin levels)
Aggressive periodontitis (sex interaction)
Hip circumference (psychosocial stress interaction)
Circulating phylloquinone levels
Diffuse large B cell lymphoma
Response to chemotherapy in breast cancer (hypertension) (bevacizumab)
Response to chemotherapy in breast cancer hypertensive cases (cumulative dose) (bevacizumab)
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.
Thiazide-induced adverse metabolic effects in hypertensive patients
Proinsulin levels
Acoustic startle blink response
Sickle cell anemia (haemolysis)
Homoarginine levels
Plasma plasminogen activator levels
Iris characteristics
Exfoliation syndrome OMIM mapping confirmed by DO. [SN].
Lead levels in blood
Hepatitis
Facial pigmentation
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)
Gene methylation in lung tissue
Gastritis A stomach disease that is an inflammation of the lining of the stomach.
Milk allergy
Egg allergy A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms.
Vincristine-induced peripheral neuropathy in acute lymphoblastic leukemia
Depressive symptoms (SSRI exposure interaction)
Alzheimer's disease (survival time)
Liver enzyme levels (alanine transaminase)
Liver enzyme levels (aspartate transaminase)
Orthostatic hypotension A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.
Eating disorders
Pulmonary function
Insomnia (caffeine-induced)
Fasting blood glucose (BMI interaction)
Fasting blood insulin (BMI interaction)
Fasting blood insulin
Antibody status in Tripanosoma cruzi seropositivity
QRS duration in Tripanosoma cruzi seropositivity
Chagas cardiomyopathy in Tripanosoma cruzi seropositivity
Parasitemia in Tripanosoma cruzi seropositivity
Occipital cortical area (total cortical area interaction)
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.
Plasma omega-3 polyunsaturated fatty acid levels (alphalinolenic acid)
Plasma omega-3 polyunsaturated fatty acid levels (docosahexaenoic acid)
Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid)
Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid)
Butyrylcholinesterase levels
Retinol levels
Breast cancer (prognosis)
Temperament
Testosterone levels
Aortic-valve calcification
Coronary arterial lesions in patients with Kawasaki disease
Waist-to-hip circumference ratio (ever vs never smoking interaction)
Body mass index (alcohol intake interaction)
Body mass index (dietary energy interaction)
Body mass index (recreational physical activity interaction)
Body mass index (ever vs never smoking interaction)
Body mass index (smoking years interaction)
Waist-to-hip circumference ratio (dietary energy interaction)
Waist-to-hip circumference ratio (smoking years interaction)
Waist-to-hip circumference ratio (recreational physical activity interaction)
Waist-to-hip circumference ratio (alcohol intake interaction)
Depression and alcohol dependence
Platelet function and related traits
Thyroid volume Is a quantification of the volume of the thyroid.
Schizophrenia (age at onset)
Temporomandibular joint disorder
Glycemic traits
Vaspin levels
Homeostasis model assessment of beta-cell function (dietary factor interaction)
Homeostasis model assessment of insulin resistance (dietary factor interaction)
Fasting insulin (dietary factor interaction)
Fetal hemoglobin levels
Cardiovascular disease risk factors disease cluster belonging to disease group cardiovascular
Weight loss (gastric bypass surgery)
Tardive dyskinesia the involuntary movements are tardive, meaning they have a slow or belated onset
Aging (time to death)
Aging (time to event)
Interstitial lung disease
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.
Digit length ratio Is the ratio of 2D:4D used a a marker for prenatal androgen exposure.
Meningococcal disease
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.
Early cardiac repolarization
Chronic myeloid leukemia A myeloid leukemia that is characterized by over production of white blood cells.
Testicular cancer A male reproductive system cancer that is located_in the testicles.
Corneal structure
Epilepsy (remission after treatment)
Response to irinotecan and platinum-based chemotherapy in non-small-cell lung cancer
Borderline personality disorder features
Migraine with aura A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon.
Migraine - clinic-based
Verbal declarative memory
Oligoclonal band status in multiple sclerosis
Immunoglobulin G index levels in multiple sclerosis
Hip circumference
Hippocampal atrophy Atrophy of the hippocampus as a result of some external stress or disease
Cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) with severe mucosal involvement
Gastroesophageal reflux disease, peptic ulcer disease and/or corresponding medications and treatment
Metabolic coherence (transcriptomic)
joint destruction in rheumatoid arthritis (rapid vs slow)
Systolic blood pressure (baseline)
Cognitive function in longevity
Hypertrophic cardiomyopathy (MTAG)
Dilated cardiomyopathy (MTAG)
Left ventricular global radial strain
Left ventricular ejection fraction (MTAG)
Left ventricular mass to end-diastolic volume ratio (MTAG)
Left ventricular mass (MTAG)
Left ventricular end-diastolic volume (MTAG)
Left ventricular end-systolic volume (MTAG)
Left ventricular global circumferential strain (MTAG)
Left ventricular global radial strain (MTAG)
Left ventricular global longitudinal strain (MTAG)
Left ventricle wall thickness
Left ventricular global circumferential strain
Left ventricular mass to end-diastolic volume ratio
Left ventricular global longitudinal strain
Fasting plasma glycodeoxycholate 3-O-glucuronide concentration
Fasting plasma glycochenodeoxycholate 3-O-glucuronide concentration
Psychological resilience (outcome-based) in high deployment stress exposure
Psychological resilience (self-assessed)
Psychological resilience (outcome-based)
Asthma with severe exacerbations
Diverticular disease
Diverticulitis
Cotinine levels in smokers with chronic obstructive pulmonary disease
Smoking cessation in chronic obstructive pulmonary disease
Exhaled carbon monoxide levels in smokers with chronic obstructive pulmonary disease
Serum CC16 levels
Urinary albumin excretion (no hypertensive medication)
Helicobacter pylori OMP antibody levels
Anti-herpes simplex virus 2 IgG seropositivity
Anti-polyomavirus 2 IgG seropositivity
Cytomegalovirus pp28 antibody levels
Polyomavirus 2 JC VP1 antibody levels
Anti-Merkel cell polyomavirus IgG seropositivity
Merkel cell polyomavirus VP1 antibody levels
Epstein-Barr virus ZEBRA antibody levels
Anti-human herpesxa0virusxa06xa0IE1A IgGxa0seropositivity
Toxoplasma gondii sag1 antibody levels
Human herpes virusxa06 IE1Axa0antibodyxa0levels
Anti-varicella zoster virus IgG seropositivity
Human herpesxa0virusxa07 U14xa0antibodyxa0levels
BK polyomavirus VP1 antibody levels
Helicobacter pylori UREA antibody levels
Chlamydia trachomatis PorB antibody levels
Herpes simplex virus 2 mgG-1 antibody levels
Anti-Epstein-Barr virus IgG seropositivity
Epstein-Barr virus EA-D antibody levels
Epstein-Barr virus EBNA-1 antibody levels
Epstein-Barr virus VCA p18 antibody levels
Varicella zoster virus glycoproteins E and I antibody levels
Factor VII activity
Factor VII activity or levels
Alzheimer's disease or family history of Alzheimer's disease
Non-alcoholic fatty liver disease activity score in non-alcoholic fatty liver disease
Liver fibrosis in non-alcoholic fatty liver disease
Aspartate aminotransferase levels in non-alcoholic fatty liver disease
Alanine aminotransferase levels in non-alcoholic fatty liver disease
Sweet beverage consumption
Sugar-sweetened beverage consumption
Artificially sweetened beverage consumption
Pure non-grapefruit juice consumption
Bitter beverage consumption
Grapefruit juice consumption
Coronary artery disease and LDL cholesterol levels (multivariate analysis)
Coronary artery disease and triglyceride levels (multivariate analysis)
Acute post-radiotherapy pain in breast cancer
Blood metabolite levels
Academic attainment (English)
BRCA1 mutation in breast cancer
Metabolically unhealthy in obesity
Metabolically unhealthy in normal weight
Addison's disease An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands.
Serum galactose-deficient IgA1 levels in IgA nephropathy
Disruptive behavior disorder and attention deficit hyperactivity disorder
Declining hemoglobin trajectory in blood donors
Frontal fibrosing alopecia
Suicidal ideation A risk factor for suicide attempts and completions, it is the most common of all suicidal behavior, but only a minority of ideators engage in overt self-harm.
Suicide attempts
Adult asthma
Asthma-chronic obstructive pulmonary disease overlap syndrome
Cirrhosis (alcohol related)
Triiodothyronine levels and thyroxine levels
Glycine levels
Carpal tunnel syndrome OMIM mapping confirmed by DO. [SN].
Sleep duration (short sleep)
Sleep duration (long sleep)
Early age-related macular degeneration
Digit length ratio (right hand)
Digit length ratio (left hand)
Facial pigmentation measurement (UV light)
Facial pigmentation measurement (polar light)
Cutaneous leishmaniasis A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions.
Carotid intima media thickness in rheumatoid arthritis
Ischemic heart disease in rheumatoid arthritis
Carotid plaques in rheumatoid arthritis
Triglyceride levels (parental genotype effect)
Triglyceride levels in response to fenofibrate treatment (parental genotype effect)
Chronic back pain
Latent autoimmune diabetes disease cluster belonging to disease group other
Latent autoimmune diabetes vs. type 2 diabetes
Latent autoimmune diabetes vs. type 1 diabetes
Lateral ventricular volume in normal aging
Hypertension in type 2 diabetes
Colorectal cancer x fine particulate matter exposure levels interaction
Adult body size
Spondylosis An bone structure disease that involves degeneration between vertebra located_in vertebral column.
D-dimer levels in HIV infection
Interleukin-6 levels in HIV infection
High-sensitivity C-reactive protein levels in HIV infection
Cryptococcosis in HIV infection
Red blood cell folate levels
Hyperglycemia
Hyperglycemia in higher physical activity
Hyperglycemia in more-fat diet
Homeostasis model assessment of insulin resistance in less-fat diet
Hyperinsulinemia x BMI interaction
Hyperinsulinemia x saturated fatty acids interaction
Homeostasis model assessment of insulin resistance x saturated fatty acids interaction
Hyperinsulinemia in obesity
Hyperinsulinemia in lower physical activity
Hyperinsulinemia in less-fat diet
Serum urate levels in chronic kidney disease
Gout in chronic kidney disease
Intra-individual response time variability (selective attention)
Parkinson's disease (age at diagnosis)
Serum 25-Hydroxyvitamin D levels
Nose length
Eye length
Mouth morphology (principal component model)
Nose morphology (partial least square model)
Severe diabetic retinopathy in type 2 diabetes
Blood protein levels
Carotenoid levels
Lipid or lipoprotein levels
Vitamin levels
Chronic periodontitis (localised)
Composite immunoglobulin trait (IgA x IgG)
Composite immunoglobulin trait (IgA/IgG)
Composite immunoglobulin trait (IgA x IgG x IgM)
Composite immunoglobulin trait (IgA/IgM)
Composite immunoglobulin trait (IgA x IgG/IgM)
Composite immunoglobulin trait (IgG/IgM)
IgM levels
Total body bone mineral density
Ulna and radius bone mineral density
Post-bronchodilator FEV1 x air pollution (NO2) interaction in childhood asthma
Asthma (time to childhood onset) in early life tobacco smoke exposure
Asthma (time to childhood onset) x early life tobacco smoke interaction
Adenocarcinoma in never smokers
Pyridoxal 5'-phosphate levels
Plasma pyridoxal phosphate to pyridoxal ratio
Hypospadias (moderate to severe)
Sphingolipid d18:1/d18:2 ratio
Corneal endothelial cell density
Corneal endothelial cell shape (percentage of hexagonally shaped cells)
Intraocular pressure (corneal compensated)
Intraocular pressure (Goldman correlated)
Glucosuria (moderate to severe)
Hematuria (moderate to severe)
Hematuria (mild)
Urine pH measurement
Glucosuria (mild)
Low urine pH
Glucosuria
Proteinuria (moderate to severe)
Proteinuria (mild)
Hematuria The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).
Ketonuria High levels of ketone bodies in the urine.
Ketonuria (moderate to severe)
Ketonuria (mild)
Proteinuria
Reduced foot dorsiflexion strength in Charcot-Marie-Tooth disease type 1A
Resistant hypertension
Priapism in sickle cell disease
Neurological blood protein biomarker levels
Upper eyelid sagging severity
Circulating fibroblast growth factor 23 levels
Uterine fibroid number (single vs multiple)
Uterine fibroid size (maximum dimension)
Uterine fibroid size (maximum volume)
Initial alcohol sensitivity
Response to opioid analgesics in cancer (pain decrease)
Nicotine dependence and major depression (severity of comorbidity)
Educational attainment (years of education)
Subiculum volume
Total hippocampal volume
Hippocampal subfield CA3 volume
Hippocampal subfield CA4 volume
Subiculum volume (corrected for total hippocampal volume)
Hippocampal subfield CA1 volume (corrected for total hippocampal volume)
Dentate gyrus granule cell layer volume (corrected for total hippocampal volume)
Dentate gyrus molecular layer volume (corrected for total hippocampal volume)
Hippocampal tail volume (corrected for total hippocampal volume)
Presubiculum volume
Hippocampal subfield CA1 volume
Presubiculum volume (corrected for total hippocampal volume)
Dentate gyrus granule cell layer volume
Dentate gyrus molecular layer volume
Hippocampal fissure volume
Hippocampal tail volume
Nonsyndromic cleft lip with or without cleft palate x sex interaction (2df test)
HATA volume
Inflammatory biomarkers (multivariate analysis)
Body size at age 10
HIgh-sensitivity cardiac troponin T levels (high vs low)
High-sensitivity cardiac troponin T levels
Childhood onset type 2 diabetes
Cognitive impairment test score
Endometrial cancer (endometrioid histology)
Endometrial cancer (Non-endometrioid histology)
Response to TNF inhibitor in rheumatoid arthritis (erythrocyte sedimentation rate)
Response to TNF inhibitor in rheumatoid arthritis (change in swollen 28-joint count)
Response to TNF inhibitor in rheumatoid arthritis (change in patient global heath assessment score)
Response to TNF inhibitor in rheumatoid arthritis (change in tender 28-joint count)
Response to TNF inhibitor in rheumatoid arthritis (change in disease activity score)
Waldenstrom macroglobulinemia / lymphoplasmacytic lymphoma
Extremely high intelligence
Radiation-induced brain injury in nasopharyngeal carcinoma
Pulmonary function (FVC) x omega-3 PUFA (docosahexaenoic acid) interaction (2df)
Response to ranibizumab in age-related macular degeneration (exudative)
Diffusing capacity of the lung for carbon monoxide traits
Anti-rubella virus IgG levels
Remission after SSRI treatment in major depression
Relative amplitude of rest-activity cycles
Disrupted circadian rhythm (low relative amplitude of rest-activity cycles)
Barrett's esophagus or esophageal adenocarcinoma x sex interaction (1df test)
Barrett's esophagus or esophageal adenocarcinoma x sex interaction (2df test)
Barrett's esophagus or Esophageal adenocarcinoma
Childhood asthma with severe exacerbations
Cirrhosis (multi-trait analysis)
Major depressive episode treated with electroconvulsive therapy
Major depressive disorder and major depressive episode treated with electroconvulsive therapy
Response to tofacitinib treatment in rheumatoid arthritis (herpes zoster)(time to event)
Response to tofacitinib treatment in psoriasis (herpes zoster)(time to event)
Response to tofacitinib treatment in rheumatoid arthritis (herpes zoster)
Response to tofacitinib treatment in psoriasis (herpes zoster)
Response to tofacitinib treatment (herpes zoster)(time to event)
Response to tofacitinib treatment (herpes zoster)
Bipolar disorder (MTAG)
Early chronic obstructive pulmonary disease in never smokers
Major depressive disorder (MTAG)
BRCA1/2-negative high-risk breast cancer
Fasting glucose in pregnancy (gestational week 14-16)
Two-hour glucose in pregnancy (gestational week 30-32)
General glucose level in pregnancy (gestational week 30-32)
Alcohol use disorder (dependence and problematic use scores)
Alcohol use disorder (total score)
Alcohol use disorder (consumption score)
Hip shape (DXA scan)
Seasonality and depression
Hip bone mineral density and total body fat mass (bivariate analysis)
Postburn scar height
Postburn scar pliability
Metabolic syndrome (multivariate analysis)
Offspring birth weight
Cholesteryl ester transfer protein levels
Cerebral microbleeds
Cerebral microbleeds (lobar)
Fish consumption
Hypersomnia (HLA-DQB1*06:02 negative)
Falling risk
Acute lymphoblastic leukemia in childhood (B cell precursor)
Delirium
Change in HbA1c levels in response to metformin treatment in type 2 diabetes
Eye color traits
Skin pigmentation traits
Hair morphology traits
Anthropometric traits (multi-trait analysis)
Anthropometric traits
Disorders of lipid metabolism
Handedness
Response to lurasidone in schizophrenia
Eye movement (horizontal position gain)
Eye movement in schizophrenia (horizontal position gain)
Erectile dysfunction
Myopic maculopathy
Anorexia nervosa or obsessive-compulsive disorder
Serum erythropoietin levels
Waist-to-hip ratio adjusted for BMI (recessive genetic model)
Waist-to-hip ratio adjusted for BMI (additive genetic model)
Recombination rate (males) disease cluster belonging to disease group other
Recombination rate (females) disease cluster belonging to disease group other
HIV-1 progression
Suicide risk
Retinal vascular caliber
Factor VII
Hemostatic factors and hematological phenotypes disease cluster belonging to disease group hematological
IgG glycosylation
Osteonecrosis of the jaw
F-cell distribution disease cluster belonging to disease group hematological
Oral cavity and pharyngeal cancer
Blond vs. brown hair color
Blue vs. green eyes
Blue vs. brown eyes
Brain structure (hippocampal volume)
Brain structure (temporal lobe volume)
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.
Select biomarker traits disease cluster belonging to disease group other
Testicular germ cell cancer A testicular cancer that has_material_basis_in germ cells.
Crohn's disease (time to surgery)
Crohn's disease (need for surgery)
Diabetes (gestational)
Metabolic syndrome (bivariate traits)
Waist Circumference - Triglycerides (WC-TG)
HDL Cholesterol - Triglycerides (HDLC-TG)
Triglycerides-Blood Pressure (TG-BP)
Prostate cancer (SNP x SNP interaction)
Temperament (bipolar disorder)
Other erythrocyte phenotypes disease cluster belonging to disease group hematological
Dehydroepiandrosterone sulphate levels
Response to tamoxifen in breast cancer
Diabetes (incident) disease cluster belonging to disease group metabolic
Diabetes related insulin traits disease cluster belonging to disease group metabolic
Asperger disorder
Glaucoma (exfoliation) disease cluster belonging to disease group vision
Activated partial thromboplastin time
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.
Iron levels disease cluster belonging to disease group metabolic
Non-alcoholic fatty liver disease histology (lobular)
Non-alcoholic fatty liver disease histology (AST)
Fuchs's corneal dystrophy
Vitamin D insufficiency
Neuranatomic and neurocognitive phenotypes
Alcoholism (12-month weekly alcohol consumption)
Alcoholism (alcohol use disorder factor score)
Alcoholism (alcohol dependence factor score)
Common traits (Other)
Psychosis (methamphetamine induced)
Methamphetamine dependence disease cluster belonging to disease group chemdependency
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.
Biomedical quantitative traits disease cluster belonging to disease group other
F-cell distribution in sickle cell anaemia
Liver enzyme levels
Brain imaging in schizophrenia (dorsolateral prefrontal cortex interaction)
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).
Bipolar disorder and schizophrenia
Serum prostate-specific antigen levels
Quantitative traits disease cluster belonging to disease group other
Response to methylphenidate treatment in attention-deficit/hyperactivity disorder (blood pressure)
Neuroblastoma (high-risk) disease cluster belonging to disease group cancer
Hyperactive-impulsive symptoms disease cluster belonging to disease group psych
Inattentive symptoms disease cluster belonging to disease group psych
Optic disc parameters
Age-related macular degeneration (extreme sampling)
Response to hepatitis C treatment disease cluster belonging to disease group pharmacogenomic
Heart rate variability traits disease cluster belonging to disease group cardiovascular
Brain structure disease cluster belonging to disease group neurological
Beta thalassemia/hemoglobin E disease disease cluster belonging to disease group hematological
Brain imaging
Attention deficit hyperactivity disorder (time to onset) disease cluster belonging to disease group psych
N-glycan levels
Response to interferon beta therapy
Acenocoumarol maintenance dosage disease cluster belonging to disease group pharmacogenomic
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.
Folate pathway vitamin levels disease cluster belonging to disease group metabolic
Subclinical atherosclerosis traits (other) disease cluster belonging to disease group cardiovascular
Exercise treadmill test traits disease cluster belonging to disease group other
Echocardiographic traits disease cluster belonging to disease group cardiovascular
Endothelial function traits disease cluster belonging to disease group cardiovascular
Hip bone size Is a quantification of the size of a human hip bone.
Volumetric brain MRI Is a quantification of brain volume using magnetic resonance imaging.
Cognitive test performance
Primary tooth development (number of teeth)
Primary tooth development (time to first tooth eruption)
Smooth-surface caries
Pit-and-Fissure caries
Lipoprotein-associated phospholipase A2 activity and mass
Optic nerve measurement (cup area)
Optic nerve measurement (rim area)
Optic nerve measurement (disc area)
Optic nerve measurement (cup-to-disc ratio)
Large B-cell lymphoma
Functional MRI
Carotenoid and tocopherol levels
5-HTT brain serotonin transporter levels
Insulin-like growth factors disease cluster belonging to disease group unknown
Cardiac muscle measurement
Hip geometry Measurements of the hip.
Cystatin C levels
Tonometry disease cluster belonging to disease group other
Response to acetaminophen (hepatotoxicity)
Myocardial infarction (early onset) disease cluster belonging to disease group cardiovascular
Iris color
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.
Parkinson's disease (familial) disease cluster belonging to disease group neurological
YKL-40 levels
Brain lesion load disease cluster belonging to disease group immune
Multiple sclerosis (severity) disease cluster belonging to disease group immune
Multiple sclerosis (age of onset) disease cluster belonging to disease group immune
Normalized brain volume
Aging traits disease cluster belonging to disease group aging
Morbidity-free survival
Bipolar disorder (age of onset and psychotic symptoms)
Atrial fibrillation/atrial flutter disease cluster belonging to disease group cardiovascular
Carotid atherosclerosis in HIV infection disease cluster belonging to disease group cardiovascular
Natriuretic peptide levels
Hearing impairment A decreased magnitude of the sensory perception of sound.
Creutzfeldt-Jakob disease (variant)
Celiac disease or Rheumatoid arthritis
Cardiac structure and function disease cluster belonging to disease group cardiovascular
Multiple sclerosis--Brain Glutamate Levels
Beta-trace protein levels
Ankle-brachial index
Electrocardiographic conduction measures disease cluster belonging to disease group cardiovascular
Cardiovascular risk factors (age interaction)
Cardiovascular risk factors disease cluster belonging to disease group cardiovascular
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.
Serum selenium levels
Soluble E-selectin levels
Pulmonary function (smoking interaction)
Sphingolipid levels
Osteoporosis-related phenotypes disease cluster belonging to disease group metabolic
Event-related brain oscillations
Suicide attempts in bipolar disorder
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.
Erectile dysfunction and prostate cancer treatment
Atrioventricular conduction
HIV-1 control disease cluster belonging to disease group infection
Biochemical measures disease cluster belonging to disease group other
Soluble levels of adhesion molecules disease cluster belonging to disease group hematological
Orofacial clefts (maternal alcohol consumption interaction)
Body mass in chronic obstructive pulmonary disease
Mean forced vital capacity from 2 exams disease cluster belonging to disease group cardiovascular
Congenital heart malformation any structural anomly of the heart that is present from birth
Alcohol consumption (transferrin glycosylation)
Cutaneous nevi disease cluster belonging to disease group other
Adiposity disease cluster belonging to disease group metabolic
Idiopathic dilated cardiomyopathy disease cluster belonging to disease group cardiovascular
Cardiac hypertrophy an increase in size of the cardiac tissue, not due to increased cell number
Obesity and osteoporosis disease cluster belonging to disease group metabolic
Glomerulosclerosis A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney.
Tanning
C4b binding protein levels
Prion diseases
Drug-induced Stevens-Johnson syndrome or toxic epidermal necrolysis (SJS/TEN)
Arterial stiffness
Radiation response
Hoarding
Response to metformin in type 2 diabetes (glycemic)
Lp (a) levels
Anti-cyclic Citrullinated Peptide Antibody
Burning and freckling disease cluster belonging to disease group other
Red vs. non-red hair color
Age-related macular degeneration (wet) disease cluster belonging to disease group vision
Breast cancer (male)
Amyotrophic lateral sclerosis (age of onset)
Amyotrophic lateral sclerosis (C9orf72 mutation interaction)
Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals
Amyotrophic lateral sclerosis in C9orf72 mutation positive individuals
Head circumference (infant)
Non-albumin protein levels
HPV seropositivity
Neonatal lupus
Vitamin E levels
Chronic kidney disease and serum creatinine levels
Partial epilepsies
Wilms tumor
Esophageal cancer and gastric cancer
Depression (quantitative trait)
Aspirin hydrolysis (plasma)
Breast Cancer in BRCA1 mutation carriers
Anthropometric traits in newborns
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.
Periodontal microbiota
Response to fenofibrate
Stroke (pediatric)
Sunburns
Circulating myeloperoxidase levels (serum)
Circulating myeloperoxidase levels (plasma)
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.
Erythrocyte sedimentation rate
Cholelithiasis-related traits in sickle cell anemia
Caffeine consumption
Liver enzyme levels (gamma-glutamyl transferase)
Liver enzyme levels (alkaline phosphatase)
White blood cell types
Estradiol levels
Brain connectivity
Formal thought disorder in schizophrenia
QT interval (drug interaction)
Estradiol plasma levels (breast cancer)
Response to amphetamines
HbA2 levels
Psychosis and Alzheimer's disease
Psychosis in Alzheimer's disease
Lung cancer (asbestos exposure interaction)
Adverse response to chemotherapy (neutropenia/leucopenia) (docetaxel)
Adverse response to chemotherapy (neutropenia/leucopenia) (cyclophosphamide)
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimicrotubule drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all topoisomerase inhibitors)
Adverse response to chemotherapy (neutropenia/leucopenia) (etoposide)
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel)
Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)
Adverse response to chemotherapy (neutropenia/leucopenia) (all anthracycline-based drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (doxorubicin)
Adverse response to chemotherapy (neutropenia/leucopenia) (epirubicin)
Adverse response to chemotherapy (neutropenia/leucopenia) (5-fluorouracil)
Adverse response to chemotherapy (neutropenia/leucopenia) (all antimetabolite drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (all platinum-based drugs)
Adverse response to chemotherapy (neutropenia/leucopenia) (gemcitabine)
Adverse response to chemotherapy (neutropenia/leucopenia) (camptothecin)
Adverse response to chemotherapy (neutropenia/leucopenia) (paclitaxel + carboplatin)
Adverse response to chemotherapy (neutropenia/leucopenia) (cisplatin)
Dermatomyositis A myositis and is_a dermatitis that results_in inflammation located_in muscle and located_in skin. The disease may result from either a viral infection or an autoimmune reaction.|A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
Response to gemcitabine in pancreatic cancer
Cardiovascular heart disease in diabetics
Preeclampsia A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria.|A complication of PREGNANCY, characterized by a complex of symptoms including maternal HYPERTENSION and PROTEINURIA with or without pathological EDEMA. Symptoms may range between mild and severe. Pre-eclampsia usually occurs after the 20th week of gestation, but may develop before this time in the presence of trophoblastic disease.
Palmitic acid (16:0) levels
Stearic acid (18:0) levels
Type 2 diabetes (dietary heme iron intake interaction)
Sexual dysfunction (SSRI/SNRI-related)
Sexual dysfunction (female)
Age at smoking initiation in chronic obstructive pulmonary disease
Lifetime average cigarettes per day in chronic obstructive pulmonary disease
Esophageal cancer (squamous cell)
Esophageal cancer (alcohol interaction)
Pulmonary function decline
Capecitabine sensitivity
Age-related macular degeneration (choroidal neovascularisation)
Age-related macular degeneration (geographic atrophy)
Age-related macular degeneration (CNV vs. GA)
Hypertension risk in short sleep duration
Response to bleomycin (chromatid breaks)
Bone mineral density (wrist)
Small-cell lung cancer (survival)
Progranulin levels
Epirubicin-induced leukopenia
Adverse response to carbamazepine
Insulin-related traits
Asthma (bronchodilator response)
C-reactive protein and white blood cell count
Response to cholinesterase inhibitors in Alzheimer's disease
Self-employment
Retinopathy in non-diabetics
Thyroid hormone levels
Alzheimer's disease (cognitive decline)
Non-small cell lung cancer
Comprehensive strength and appendicular lean mass
Aspirin exacerbated respiratory disease in asthmatics
Coronary heart disease (SNP X SNP interaction)
Cystic fibrosis severity
Scoliosis An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed)
Soluble ICAM-1 disease cluster belonging to disease group hematological
Gambling
Lean body mass and age at menarche (combined)
Esophageal squamous cell cancer (length of survival)
Odorant perception (isobutyraldehyde)
Odorant perception (&beta;-ionone)
Response to anti-depressant treatment in major depressive disorder
Molar-incisor hypomineralization a hypomineralisation of systemic origin of one to four permanent first molars frequently associated with affected incisors
Thyroid cancer (Papillary, radiation-related)
Vascular dementia A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain.
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.
Serum protein levels (sST2)
Anxiety in major depressive disorder
Anxiety and major depressive disorder
Epstein-Barr virus immune response (EBNA-1)
Multiple sclerosis (OCB status)
Periodontitis (DPAL)
Periodontitis (PAL4Q3)
Periodontitis (Mean PAL)
Periodontitis (CDC/AAP)
Response to tocilizumab in rheumatoid arthritis
B cell non-Hodgkin lymphoma
Lumbar spine bone mineral density
Renal transplant outcome disease cluster belonging to disease group renal
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.
Insulinoma-associated antigen 2 autoantibody levels in type 1 diabetes
Gastric parietal cell autoantibody levels in type 1 diabetes
Thyroid peroxidase autoantibody levels in type 1 diabetes
Intracranial volume
Body mass index and cholesterol (psychopharmacological treatment)
Lipid levels in hepatitis C treatment
Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined)
Response to antineoplastic agents
Male fertility
Economic and political preferences
Economic and political preferences (fairness)
Economic and political preferences (feminism/equality)
Economic and political preferences (environmentalism)
Nephropathy
Economic and political preferences (immigration/crime)
Economic and political preferences (time)
Crohn's disease and celiac disease
Response to angiotensin II receptor blocker therapy
Response to angiotensin II receptor blocker therapy (opposite direction w/ diuretic therapy)
Blood trace element (Se levels)
Blood trace element (Cu levels)
Blood trace element (Zn levels)
Response to diuretic therapy disease cluster belonging to disease group pharmacogenomic
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.
Hematological parameters disease cluster belonging to disease group hematological
Cognitive performance
Schizophrenia, bipolar disorder and depression (combined)
Ileal carcinoids
Adverse response to aromatase inhibitors
Pubertal anthropometrics
Protein quantitative trait loci disease cluster belonging to disease group other
IgE grass sensitization
Response to TNF antagonist treatment disease cluster belonging to disease group pharmacogenomic
Hypertension (young onset) disease cluster belonging to disease group cardiovascular
Response to anti-TNF alpha therapy in inflammatory bowel disease
Attention deficit hyperactivity disorder and conduct disorder disease cluster belonging to disease group psych
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.
Attention deficit hyperactivity disorder symptoms (maternal expressed emotions interaction)
Conduct disorder (maternal expressed emotions interaction)
Black vs. blond hair color
Black vs. red hair color
Biliary atresia A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder.
Life threatening arrhythmia
Pulmonary arterial hypertension (without BMPR2 mutations)
&beta;2-Glycoprotein I (&beta;2-GPI) plasma levels
Hematology traits
DNA methylation (parent-of-origin)
DNA methylation (variation)
Relative hand skill in reading disability
Relative hand skill
Response to dabigatran etexilate treatment
Intelligence The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
Prothrombin time
Immune response to anthrax vaccine
Response to Vitamin E supplementation
Ulcerative colitis or Crohn's disease
Electroencephalographic traits in alcoholism
Gamma glutamyl transpeptidase
Response to antipsychotic treatment in schizophrenia (working memory)
Response to antipsychotic treatment in schizophrenia (reasoning)
Renal sinus fat
Airflow obstruction
Tumor biomarkers
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.
Clozapine-induced agranulocytosis disease cluster belonging to disease group other
Urinary symptoms in response to radiotherapy in prostate cancer
Major depressive disorder (broad) disease cluster belonging to disease group psych
Matrix metalloproteinase levels
Monocyte early outgrowth colony forming units
Platelet aggregation The adhesion of one platelet to one or more other platelets via adhesion molecules.
Neuroticism (age interaction)
Speech perception in dyslexia disease cluster belonging to disease group psych
Major mood disorders
Emphysema-related traits
Nephrotic syndrome (acquired)
Myocardial infarction in coronary artery disease
Asthma (toluene diisocyanate-induced) disease cluster belonging to disease group immune
Brain cytoarchitecture
Response to treatment for acute lymphoblastic leukemia disease cluster belonging to disease group pharmacogenomic
Creutzfeldt-Jakob disease OMIM mapping confirmed by DO. [SN].
Two-hour glucose challenge disease cluster belonging to disease group metabolic
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.
Angiotensin-converting enzyme activity
Lumiracoxib-related liver injury
Moyamoya disease A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots.
Bipolar disorder or major depressive disorder
HIV-1 replication
Male infertility
Bitter taste response
Dupuytren's disease disease cluster belonging to disease group other
Brachial circumference
Helicobacter pylori serologic status
Permanent tooth development
End-stage coagulation
Schizophrenia (negative symptoms)
Aging (facial)
Homeostasis model assessment of beta-cell function
Phytosterol levels
Idiopathic membranous nephropathy
Caudate nucleus volume The volume of the caudate nucleus, a brain structure implicated in many common neurological and psychiatric disorders
Immunoglobulin A disease cluster belonging to disease group immune
Ribavirin-induced anemia
Lipoprotein-associated phospholipase A2 activity change in response to statin therapy
Response to citalopram treatment disease cluster belonging to disease group pharmacogenomic
Metabolic traits disease cluster belonging to disease group metabolic
Hepatitis C induced liver cirrhosis liver injury resulting from hepatitis C infection
Waist circumference and related phenotypes disease cluster belonging to disease group metabolic
Menarche and menopause (age at onset) disease cluster belonging to disease group reproduction
AIDS A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin&amp;apos;s lymphoma and Kaposi&amp;apos;s sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood. -- 2004|Acquired immunodeficiency syndrome is a HIV infection consisting of a disease of the human immune system that is characterized cytologically especially by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|An HIV infectious disease that is a characterized cytologically by a reduction in the numbers of CD4-bearing helper T cells to 20 percent or less of normal thereby rendering the subject highly vulnerable to life-threatening conditions (as Pneumocystis carinii pneumonia) and to some that become life threatening (as Kaposi's sarcoma) and that is caused by infection with HIV commonly transmitted in infected blood especially during illicit intravenous drug use and in bodily secretions (as semen) during sexual intercourse.|A syndrome resulting from the acquired deficiency of cellular immunity caused by the human immunodeficiency virus (HIV). It is characterized by the reduction of the Helper T-lymphocytes in the peripheral blood and the lymph nodes. Symptoms include generalized lymphadenopathy, fever, weight loss, and chronic diarrhea. Patients with AIDS are especially susceptible to opportunistic infections (usually pneumocystis carinii pneumonia, cytomegalovirus (CMV) infections, tuberculosis, candida infections, and cryptococcosis), and the development of malignant neoplasms (usually non-Hodgkin's lymphoma and Kaposi's sarcoma). The human immunodeficiency virus is transmitted through sexual contact, sharing of contaminated needles, or transfusion of contaminated blood.|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_agent Human immunodeficiency virus 1 or has_agent 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.
Inflammatory bowel disease (early onset) disease cluster belonging to disease group immune
Coagulation factor levels
Circulating cell-free DNA
Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS-TEN)
Renal function-related traits (BUN)
Renal function-related traits (sCR)
Renal function-related traits (eGRFcrea)
Renal function-related traits (urate)
Lentiform nucleus volume
Circulating vasoactive peptide levels
Metabolite levels (HVA/5-HIAA ratio)
Metabolite levels (HVA)
Metabolite levels (5-HIAA)
Metabolite levels (HVA-5-HIAA Factor score)
Body mass index in non-asthmatics
Body mass index in asthmatics
Metabolite levels (5-HIAA/ MHPG Ratio)
Metabolite levels (HVA/MHPG ratio)
Metabolite levels (MHPG)
Response to fenofibrate (adiponectin levels)
Hepatitis B (viral clearance)
Handedness in dyslexia
Coronary restenosis
Dialysis-related mortality
Haptoglobin levels
Sclerosing cholangitis and ulcerative colitis (combined)
Drug-induced liver injury (amoxicillin-clavulanate)
Antipsychotic drug-induced QTc interval prolongation
Fat distribution (HIV)
Addiction strong dependence on an addictive compound such as alcohol or narcotics that results in uncontrollable cravings for such compounds
Immune reponse to smallpox (secreted IL-12p40)
Immune reponse to smallpox (secreted IL-2)
Immune reponse to smallpox (secreted IL-10)
Immune reponse to smallpox (secreted IL-1beta)
Immune response to smallpox vaccine (IL-6)
Immune reponse to smallpox (secreted TNF-alpha)
Immune reponse to smallpox (secreted IFN-alpha)
Cerivastatin-induced rhabdomyolysis
Response to mTOR inhibitor (everolimus)
Response to mTOR inhibitor (rapamycin)
Femoral neck bone geometry and menarche (age at onset)
Treatment response for severe sepsis
Crohn's disease and psoriasis
Parkinson's disease (motor and cognition)
Duodenal ulcer Adding UMLS CUI for Curling Ulcer C0013295.
Response to TNF-alpha inhibitors in rheumatoid arthritis
Coronary heart disease event reduction (statin therapy interaction)
HIV-associated dementia
IFN-related cytopenia
Phospholipid levels (plasma)
Adolescent idiopathic scoliosis (severe)
Sexual dimorphism in anthropometric traits
Adverse response to chemotherapy in breast cancer (alopecia)
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+epirubicin+/-5FU)
Adverse response to chemotherapy in breast cancer (alopecia) (cyclophosphamide+doxorubicin+/-5FU)
Adverse response to chemotherapy in breast cancer (alopecia) (paclitaxel)
Adverse response to chemotherapy in breast cancer (alopecia) (docetaxel)
Adverse response to chemotherapy in breast cancer (alopecia) (anti-microtubule)
Mortality in heart failure
vWF and FVIII levels
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.
End-stage renal disease (non-diabetic)
Thyrotoxic hypokalemic periodic paralysis
Nevirapine-induced rash
Post-traumatic stress disorder (asjusted for relatedness)
Callous-unemotional behaviour bavioural manifestation including low levels of empathy, absence of guilt and emotional unresponsiveness
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.
Eating disorders (purging via substances)
Schizophrenia (cytomegalovirus infection interaction)
Anticoagulant levels
D-dimer levels
Multiple myeloma (IgH translocation)
Metabolite levels (Dihydroxy docosatrienoic acid)
Metabolite levels (Pyroglutamine)
Metabolite levels (X-11787)
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.
Tetralogy of Fallot OMIM mapping confirmed by DO. [LS].
Erectile dysfunction in type 1 diabetes
Response to iloperidone treatment (QT prolongation) disease cluster belonging to disease group pharmacogenomic
Adverse response to lamotrigine and phenytoin
Response to irinotecan in non-small-cell lung cancer
Gaucher disease severity
Nephrolithiasis Formation of stones in the KIDNEY.
Response to metformin (IC50)
Risky sexual behaviors (alcohol dependence interaction)
Risky sexual behaviors in alcohol dependence
Hip minimal joint space width
Carbamazepine-induced maculopapular exanthema
Phenytoin-induced maculopapular exanthema
Bone mineral density change response to combined chemotherapy in acute lymphoblastic leukemia
Premature menopause in childhood cancer survivors
Stimulated C-peptide levels in type I diabetes
Random C-peptide levels in type I diabetes
C-peptide levels in type I diabetes
Rheumatoid arthritis (ACPA-positive)
Ankle injury
Acute kidney injury in critical illness
Headache Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Thiopurine methyltransferase activity in acute lymphoblastic leukemia patients treated with mercaptopurines
Worry too long after an embarrassing experience
Feeling fed-up
Feeling nervous
Feeling guilty
Experiencing mood swings
Docetaxel-induced peripheral neuropathy in metastatic castrate-resistant prostate cancer
Sleep latency
Coenzyme Q10 levels
Dysmenorrheic pain
Sulfasalazine-induced agranulocytosis
Early age at menarche
Immunoglobulin measurement (zinc sulfate turbidity test)
Blood sugar levels
Alanine transaminase levels
Forearm bone mineral density
Serum C3d:C3 ratio (systemic complement activation)
Feeling miserable
Neurociticism
Irritable mood
Feeling lonely
Small VLDL particle concentration
Phospholipid levels in small VLDL
Phospholipid levels in large VLDL
Triglyceride levels in large VLDL
Medium VLDL particle concentration
Mean diameter of HDL particles
Triglyceride levels in medium VLDL
Triglyceride levels in small VLDL
Bipolar disorder (early onset)
Response to mepolizumab in severe asthma
Dementia with Lewy bodies
Uveal melanoma A uveal cancer that has_material_basis_in uvea pigment cells.
Delayed reward discounting
Heart rate response to recovery post exercise
Albumin-globulin ratio
Blood urea nitrogen levels
Creatine kinase levels
Lactate dehydrogenase levels
Cortisol levels (saliva)
CSF tryptophan concentration in tuberculous meningitis
Parkinson's disease (pesticide exposure interaction)
Osteoarthritis of the hip or knee (with total joint replacement)
Survival in head and neck cancer
Pre bronchodilator FEV1/FVC ratio in never-smokers
Alcohol dependence symptom count
Job-related exhaustion in shift workers
Colorectal cancer (alcohol consumption interaction)
Depression in response to interferon-based therapy in chronic hepatitis C
Bipolar disorder lithium response (continuous) or schizophrenia
Bipolar disorder lithium response (categorical) or schizophrenia
Inhibitory control
Heart rate response to exercise
Laterality in neovascular age-related macular degeneration
Hyperuricemia An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood.
Limited cutaneous systemic scleroderma
Diffuse cutaneous systemic sclerosis
Systemic sclerosis (anti-centromere-positive)
Systemic sclerosis (anti-topoisomerase-positive)
Potassium levels
Chloride levels
Sodium levels
Total bilirubin levels
Hepatitis B virus-related hepatocellular carcinoma
Survival in breast cancer (estrogen-receptor positive)
Thiopurine-induced leukopenia in inflammatory bowel disease
diarrhoeal disease at age 1
diarrhoeal disease at age 1 with doctor diagnosis
diarrhoeal disease at age 2
diarrhoeal disease at age 2 with doctor diagnosis
Feeling worry
Suffering from nerves
Feeling hurt
Feeling tense
Response to antipsychotic treatment in schizophrenia
Response to ziprazidone in schizophrenia
Response to haloperidol in schizophrenia
Response to perphenazine in schizophrenia
Response to aripiprazole in schizophrenia
Response to risperidone in schizophrenia
Response to olanzapine in schizophrenia
Response to quetiapine in schizophrenia
Survival in sporadic amyotrophic lateral sclerosis
Left ventricular QRS voltage
Carotid artery external diameter
Carotid artery internal diameter
Antipsychotic drug-induced QTc interval change in schizophrenia
Nontyphoidal Salmonella bacteraemia
Thiopurine-induced leukopenia in inflammatory bowel disease (conditioned on rs116855232)
Thiopurine-induced severe leukopenia in inflammatory bowel disease
Thiopurine-induced acute severe leukopenia in inflammatory bowel disease
Thiopurine-induced alopecia in inflammatory bowel disease
Thiopurine-induced severe alopecia in inflammatory bowel disease
Thiopurine-induced pancreatitis in inflammatory bowel disease
Thiopurine-induced digestive symptoms in inflammatory bowel disease
Corticosteroid-induced adrenal suppression (peak cortisol < 350 nmol/L)
Corticosteroid-induced adrenal suppression (peak cortisol < 500 nmol/L)
Baseline cortisol levels in response to low dose short synacthen test in corticosteroid treated asthma
Peak cortisol response to low dose short synacthen test in corticosteroid treated asthma
Virologic severity in Herpes simplex virus type 2 infection
Serum bilirubin levels in metabolic syndrome
Serum bilirubin levels x sex interaction in metabolic syndrome
Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome
Plantar fascial disorders
Family history of Alzheimer's disease
Esophageal adenocarcinoma x smoking interaction
Esophageal adenocarcinoma x pack-years of smoking exposure interaction
Esophageal adenocarcinoma x gastroesophageal reflux disease interaction
Barrett's esophagus x BMI interaction
Barrett's esophagus x pack-years of smoking exposure interaction
Normal facial asymmetry (angle of surface orientation score)
Normal facial asymmetry (angle of deformation score)
Fast beta electroencephalogram
Normal facial asymmetry (deformation magnitude)
Cisplatin-induced ototoxicity
Poor prognosis in Crohn's disease
Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)
Liver disease severity in Alagille syndrome
Accelerometer-based physical activity measurement (fraction of time with accelerations >425 milli-gravities)
Moderate to vigorous physical activity levels
Vigorous physical activity
Strenuous sports or other exercises
Accelerometer-based physical activity measurement (average acceleration)
Factor XI
Erosive tooth wear (severe vs non-severe)
Erosive tooth wear (severe vs none or mild)
Hyperthyroidism A thyroid gland disease that involves an over production of thyroid hormone.
Free cholesterol levels in medium HDL
Phospholipid levels in large HDL
Total cholesterol levels in large HDL
Cholesterol ester levels in very large HDL
Free cholesterol levels in large HDL
Medium HDL particle concentration
Phospholipid levels in medium HDL
Free cholesterol levels in large LDL
Medium LDL particle concentration
Total cholesterol levels in medium LDL
Cholesterol ester levels in medium LDL
Mortality in sepsis
Thiopurine S-methyltransferase activity Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether.
Drug abuse
Ratio of the area under the curve for insulin and the area under the curve for glucose
Area under the curve of insulin levels
Incremental insulin
Corrected insulin response
Corrected insulin response adjusted for insulin sensitivity index
Hair shape
Overall survival in osteosarcoma
Food addiction
Male sexual orientation
Epstein Barr virus nuclear antigen 1 IgG seropositivity
Viral capsid antigen IgG seropositivity
Epstein-Barr virus immune response (multivariate analysis)
Giant cell arteritis
ADAMTS13 levels
Ejection fraction
Left ventricular internal dimension in diastole
Left ventricular internal dimension in systole
Fractional shortening
Attention deficit hyperactivity disorder or cannabis use
Autoimmune hepatitis in primary sclerosing cholangitis
Liver transplant-free survival in primary sclerosing cholangitis (time to event)
Cholangiocarcinoma in primary sclerosing cholangitis
Cholangiocarcinoma in primary sclerosing cholangitis (time to event)
Colorectal carcinoma in primary sclerosing cholangitis
Fractures (vertebral)
Putamen volume
Mortality Is the quantification of the number of deaths is a population.
Systemic lupus erythematosus or rheumatoid arthritis
Severe progression in rheumatoid arthritis
Breast milk fatty acid composition (maternal genotype effect)
Breast milk fatty acid composition (infant genotype effect)
Joint damage in rheumatoid arthritis
Empathy quotient
Urinary haptoglobin levels in type 2 diabetes
Plasma haptoglobin levels in type 2 diabetes
Cleft lip with or without cleft palate (maternal periconceptional vitamin use interaction)
Cleft lip with or without cleft palate (maternal periconceptional alcohol intake interaction)
Broad depression or major depressive disorder (self-reported)
Broad depression or major depressive disorder (recurrent)
Broad depression or bipolar disorder
Broad depression or schizophrenia
Change in glucose in response to thiazide diuretic treatment in hypertension
Smoking behaviour (maximum cigarettes in a 24 hour period)
Serum metabolite concentrations in chronic kidney disease
Urinary metabolite ratios in chronic kidney disease
Serum metabolite ratios in chronic kidney disease
Nicotine withdrawal symptom count
Nicotine withdrawal
Large HDL particle concentration
Free cholesterol levels in medium VLDL
Total cholesterol levels in large LDL
Cholesterol ester levels in large LDL
Total cholesterol levels in medium VLDL
Large LDL particle concentration
Small LDL particle concentration
Total cholesterol levels in small LDL
Selective IgA deficiency
Insulin sensitivity index
Insulin levels
Mosaic loss of chromosome Y
Insulin levels adjusted for BMI
Pediatric areal bone mineral density (concordant skeletal phenotype)
Pediatric areal bone mineral density (radius vs spine & hip discordant skeletal phenotype)
Pediatric areal bone mineral density (spine vs radius & hip discordant skeletal phenotype)
Pseudoexfoliation syndrome
Dimensional psychopathology (Arousal)
Dimensional psychopathology (Negative)
Dimensional psychopathology (Social)
Dimensional psychopathology (Positive)
Dimensional psychopathology (Cognitive)
Major depressive disorder (unexposed to adversity)
Age at first sexual intercourse
Bone mineral density x blood lead interaction in current smokers (2df test)
Bone mineral density x blood lead interaction in current smokers (1df test)
Immunoglobulin M against phosphorylcholine (IgM anti-PC) levels
Fractional excretion of metabolites in chronic kidney disease
Mood instability
Alzheimer's disease in hypertension-negative individuals
Alzheimer's disease in hypertension
Bicuspid aortic valve without aortic dilation
Subscapular skin fold thickness
Dentate gyrus volume x schizophrenia interaction
Pneumococcal meningitis x streptococcus pneumoniae genotype cluster interaction
Pneumococcal meningitis x streptococcus pneumoniae antigen allele interaction
Pneumococcal meningitis
Severe bacterial meningitis
Alzheimer’s disease and/or vascular dementia (clinical subgroup VaD+)
Alzheimer’s disease (clinical subgroup AD+)
Alzheimer’s disease (clinical subgroup AD++)
Alzheimer’s disease (clinical subgroup AD+++)
Alzheimer’s disease and/or vascular dementia (clinical subgroup VaD++)
Adverse response to drug
Ceramide levels
Lysophosphatidylcholine levels
Lysophosphatidylethanolamine levels
Triacylglyceride levels
Phosphatidylethanolamine-ether levels
Phosphatidylinositol levels
Cholesteryl ester levels
Sphingomyelin levels
Phosphatidylcholine levels
Phosphatidylcholine-ether levels
Phosphatidylethanolamine levels
Smoking behaviour (age at first cigarette)
Smoking behaviour (cigarette pack-years)
Nonsyndromic cleft lip
Nonsyndromic cleft palate
Depressive symptom (depressed mood) (binary trait)
Depressive symptom (sleep problems) (binary trait)
Depressive symptom (appetite changes) (binary trait)
Depressive symptoms (binary sum-score)
Depressive symptoms (sum-score)
Depressive symptom (fatigue) (ordinal trait)
Depressive symptom (low self-esteem) (ordinal trait)
Depressive symptom (anhedonia) (ordinal trait)
Depressive symptom (depressed mood) (ordinal trait)
Colorectal cancer or advanced adenoma
Intake of sweets
Perceived sweetness of sucrose
Sucrose liking
Perceived intensity of fructose
Perceived intensity of neohesperidin dihydrochalcone
Perceived intensity of aspartame
Perceived intensity of sweet substances
Perceived intensity of sucrose
Intake of total sugars
Perceived intensity of glucose
Psychotic experience
Psychotic experience (distressing)
Estimated glomerular filtration rate in diabetes
Estimated glomerular filtration rate in non-diabetics
Childhood steroid-sensitive nephrotic syndrome
Handedness (non-right-handed vs right-handed)
Handedness (Left-handed vs. non-left-handed)
Handedness (left-handed vs. right-handed)
Forehead morphology
Lip morphology
Upper eyelid morphology
Differential aging in older adults (frontal cortex)
Differential aging (frontal cortex)
Subjective response to placebo treatment in childhood asthma (change in cough/wheeze)
Response to placebo treatment in childhood asthma (FVC change)
Caudal anterior-cingulate cortex volume
Cuneus cortex volume
Caudal middle frontal gyrus volume
Fusiform gyrus volume
Inferior parietal cortex volume
Inferior temporal gyrus volume
Pericalcarine cortex volume
Postcentral gyrus volume
Posterior-cingulate cortex volume
Lateral occipital cortex volume
Lateral orbital frontal cortex volume
Lingual gyrus volume
Paracentral lobule volume
Pars opercularis volume
Pars orbitalis volume
Pars triangularis volume
Middle temporal gyrus volume
Parahippocampal gyrus volume
Isthmus-cingulate cortex volume
Medial orbital frontal cortex volume
Rostral anterior cingulate cortex volume
Rostral middle frontal gyrus volume
Superior frontal gyrus volume
Superior parietal cortex volume
Superior temporal gyrus volume
Supramarginal gyrus volume
Precuneus cortex volume
Temporal pole volume
Transverse temporal cortex volume
Insular cortex volume
Frontal pole volume
Corpus callosum central volume
Corpus callosum mid-anterior volume
Corpus callosum anterior volume
Cortex volume
Fourth ventricle volume
Corpus callosum posterior volume
Corpus callosum Mid-posterior volume
Lateral ventricle temporal horn volume
Lateral ventricle volume
Third ventricle volume
Ventral diencephalon volume
Choroid plexus volume
Pallidum volume
Amygdala volume
Thalamus volume
Cerebellum cortex volume
Superior temporal sulcus banks volume
Total intracranial volume
Cerebellum white matter volume
Cerebral white matter volume
Whole brain grey matter density
Sub-cortical grey matter volume
Total grey matter volume
Diastolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)
Systolic blood pressure x alcohol consumption interaction (2df test)
Familial lung adenocarcinoma
Familial squamous cell lung carcinoma
Familial lung cancer
Systolic blood pressure x alcohol consumption (light vs heavy) interaction (2df test)
Pulse pressure x alcohol consumption interaction (2df test)
BMI (adjusted for smoking behaviour)
Itch intensity from mosquito bite adjusted by bite size
Body mass index (adult)
Tacrolimus trough concentration in kidney transplant patients
Psychosis proneness (hypomanic personality scale)
Psychosis proneness (perceptual aberration scale)
Psychosis proneness (revised physical anhedonia scale)
Psychosis proneness (revised social anhedonia scale)
Psychosis proneness (hypomanic personality scale and perceptual aberration scale)
Psychosis proneness (hypomanic personality scale and revised physical anhedonia scale)
Psychosis proneness (hypomanic personality scale and revised social anhedonia scale)
Psychosis proneness (perceptual aberration scale and revised physical anhedonia scale)
Psychosis proneness (perceptual aberration scale and revised social anhedonia scale)
Psychosis proneness (revised physical anhedonia scale and revised social anhedonia scale)
vWF levels in ischaemic stroke and hyperhomocysteinaemia
Parental longevity (at least one long-lived parent)
Tenofovir clearance in HIV infection
Itch intensity from mosquito bite
Waist circumference adjusted for BMI (joint analysis main effects and smoking interaction)
Waist-to-hip ratio adjusted for BMI (joint analysis main effects and smoking interaction)
Preterm birth (maternal effect)
Skin aging (microtopography measurement)
Restricted and repetitive behaviours in autism spectrum disorder
Chronic periodontitis (mean interproximal clinical attachment level)
Waist circumference adjusted for BMI (joint analysis main effects and physical activity interaction)
Conotruncal heart defects (maternal effects)
Conotruncal heart defects (inherited effects)
Left ventricular obstructive tract defect (inherited effect)
Left ventricular obstructive tract defect (maternal effect)
Congenital heart disease (inherited effect)
Congenital heart disease (maternal effect)
Early onset atrial fibrillation
Mean arterial pressure x alcohol consumption interaction (2df test)
Mean arterial pressure x alcohol consumption (light vs heavy) interaction (2df test)
Pulse pressure x alcohol consumption (light vs heavy) interaction (2df test)
Resting-state electroencephalogram vigilance
Intertrochanteric region size
Trochanter size
Fasting blood insulin adjusted for BMI
Fasting blood glucose adjusted for BMI
Anti-thyroid peroxidase (TPOAb) levels in Hashimoto's thyroiditis
Anti-thyroglobulin (TgAb) levels in Hashimoto's thyroiditis
Anti-thyroid peroxidase (TPOAb) and anti-thyroglobulin (TgAb) levels in Hashimoto's thyroiditis
Soluble VCAM-1 levels
Endometriosis or endometrial cancer (pleiotropy)
Diffusing capacity of carbon monoxide
Placental abruption A placenta disease that is characterized by separation of the placental lining from the uterus of the mother.
Non-steroidal anti-inflammatory drug-induced enteropathy
Lymphangioleiomyomatosis (sporadic)
Medication use (agents acting on the renin-angiotensin system)
Medication use (calcium channel blockers)
Medication use (beta blocking agents)
Medication use (antiglaucoma preparations and miotics)
KANNO antigen negativity
Urinary potassium to creatinine ratio
Urinary sodium to creatinine ratio
Urinary sodium to potassium ratio
Monoclonal gammopathy of undetermined significance
Growth differentiation factor-15 levels (conditioned on rs888663)
Growth differentiation factor-15 levels
Thyrotoxic hypokalemic periodic paralysis and Graves disease
Cardiac troponin-I levels
Ventricular ectopy or supraventricular ectopy (pleiotropy)
Ventricular ectopy
Supraventricular ectopy
Idiopathic intracranial hypertension
Aortic coarctation
Clostridium difficile infection in multiple myeloma
Low white blood cell count
Low white blood cell count (conditioned on rs2814778)
Asthma exacerbations in inhaled corticosteroid treatment
Benign prostatic hyperplasia A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.|A disease caused by hyperplastic process of non-transformed prostatic cells.|Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
Self-reported childhood asthma in adult smokers
Post-traumatic stress disorder symptoms in trauma-exposed soldiers
Medication use (thyroid preparations)
Medication use (immunosuppressants)
Medication use (anti-inflammatory and antirheumatic products, non-steroids)
Medication use (drugs affecting bone structure and mineralization)
Medication use (opioids)
Medication use (salicylic acid and derivatives)
Medication use (anilides)
Medication use (antimigraine preparations)
Medication use (antidepressants)
Medication use (adrenergics, inhalants)
Medication use (glucocorticoids)
Medication use (antihistamines for systemic use)
Infliximab-induced mucosal healing in Crohn's disease
Femoral neck size
Renal cell carcinoma x sex interaction
Response to SSRI in MDD or conscientiousness
Remission after SSRI treatment in MDD or neuroticism
Remission after SSRI treatment in MDD or openness
Response to SSRI in MDD or openness
Global electrical heterogeneity phenotypes
Lipid traits (pleiotropy) (HIPO component 2)
Social science traits (pleiotropy) (HIPO component 1)
Lipid traits (pleiotropy) (HIPO component 1)
Antidepressant treatment resistance (> 2 drugs prescribed)
Antidepressant treatment resistance (number of drugs prescribed)
Neuropathic pain in head and neck cancer
Cortical amyloid beta load
Alzheimer's disease progression score
Cholesterol efflux capacity
Cholesterol efflux capacity (cAMP stimulated assay)
Body mass index and waist-hip ratio (pleiotropy)
Sural nerve amplitude potential
Glycemic traits (pleiotropy)
Bisphosphonate-associated atypical femoral fracture
Atypical femoral fracture in phosphonate treatment
Medication use (drugs used in diabetes)
Medication use (drugs for peptic ulcer and gastro-oesophageal reflux disease)
Medication use (antithrombotic agents)
Medication use (vasodilators used in cardiac diseases)
Medication use (antihypertensives)
Medication use (diuretics)
Medication use (HMG CoA reductase inhibitors)
Severity of nausea and vomiting of pregnancy
Hyperemesis gravidarum Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight.
Anti-adalimumab antibody production in response to treatment in Crohn's disease
Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)
Age-related macular degeneration (MTAG)
Sero-negative rheumatoid arthritis
Sub-foveal choroidal thickness
Obesity (extreme) (SNP x SNP interaction)
Carotid plaque disease cluster belonging to disease group cardiovascular
Group IIA secretory phospholipase A2 levels in individuals with elevated hsCRP
Health literacy
Autoimmune traits (pleiotropy)
Pre-treatment viral load in HIV-1 infection
Asthma (age of onset)
Type 2 diabetes and end-stage kidney disease in APOL1 risk genotype negative individuals
Anxiety and stress-related disorders
Stress-related disorders
Anxiety and stress-related disorders (excluding adjustment disorder)
Anxiety and stress-related disorders (excluding co-morbid schizophrenia)
Anxiety and stress-related disorders (including obsessive-compulsive disorder)
Anxiety and stress-related disorders (psychiatric co-morbidity weighting design)
Anxiety and stress-related disorders (psychiatric co-morbidity covariate model)
Low susceptibility to hepatitis C infection
Adult hearing difficulty
Adult hearing aid use
Breast cancer and/or colorectal cancer
BMI at birth
BMI at 3 months old
BMI at 6 months old
BMI at 8 months old
BMI at 1 year old
BMI at 1.5 years old
BMI at 2 years old
BMI at 3 years old
BMI at 5 years old
BMI at 7 years old
BMI at 8 years old
Percent glycated albumin
Total glycated albumin levels
Fructosamine levels
Emotional lability in attention deficit hyperactivity disorder
Right-sided colonic diverticulosis
Primary central nervous system lymphoma
Alcohol dependence (tolerance)
Alcohol dependence (desire to cut drinking)
Alcohol dependence (time spent drinking)
Cellular nuclear factor (erythroid-derived 2)-like 2 levels
Bicuspid aortic valve The presence of an aortic valve with two instead of the normal three cusps (flaps).
Pemphigus vulgaris An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.
Number of twin births
Plasma anastrozole concentration in anastrozole-treated estrogen receptor positive breast cancer
Handedness (Right-handed vs. non-right-handed)
Response to intravenous immunoglobulin treatment in Kawasaki disease
Urolithiasis presence of calculi in any part of the urinary system
Sleep (number of episodes)
Plasma norclozapine levels in treatment-resistant schizophrenia
Plasma clozapine-norclozapine ratio in treatment-resistant schizophrenia
Plasma clozapine levels in treatment-resistant schizophrenia
Arterial stiffness index
Acute lymphoblastic leukemia When the disease process is confined to a mass lesion with no or minimal evidence of blood and less than 25% marrow involvement, the diagnosis is lymphoblastic lymphoma; with blood and greater than 25% marrow involvement, ALL is the appropriate term.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.|A neoplasm characterized by abnormalities of the lymphoid cell precursors leading to excessive lymphoblasts in the marrow and other organs. It is the most common cancer in children and accounts for the vast majority of all childhood leukemias.|A leukemia/lymphoma found predominately in children and adolescents and characterized by a high number of lymphoblasts and solid tumor lesions. Frequent sites involve LYMPH NODES, skin, and bones. It most commonly presents as leukemia.|Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the precursor B lymphoblastic leukemia and precursor T lymphoblastic leukemia.
Acute lymphoblastic leukemia (adult)
Acute lymphoblastic leukemia (adult vs childhood)
Early-onset schizophrenia
Response to resistance training (vastus lateralis fiber area change)
Complement C3 levels
Complement C4 levels
Orofacial cleft x maternal periconceptional smoking interaction (1df)
Orofacial cleft x maternal periconceptional alcohol use interaction (1df)
Orofacial cleft x maternal periconceptional multivitamin use interaction (1df)
Orofacial cleft x maternal periconceptional smoking interaction (2df)
Orofacial cleft x maternal periconceptional alcohol use interaction (2df)
Orofacial cleft x maternal periconceptional multivitamin use interaction (2df)
Computer vision syndrome
Gout vs asymptomatic hyperuricemia
Severe exacerbations in childhood asthma
Appendicular lean mass
Excessive alcohol consumption
Nevus count
Facial wrinkles (principal components analysis)
COVID-19
Cannabis use disorder
Hip index
Waist-hip index
Cataracts
ABO blood group (O vs non-O)
ABO blood group (A vs O)
ABO blood group (B vs O)
ABO blood group (AB vs O)
ABO blood group (A vs non-A)
ABO blood group (B vs non-B)
ABO blood group (AB vs non-AB)
Parkinson's disease motor subtype (tremor dominant vs postural instability/gait difficulty)
Parkinson's disease motor subtype (tremor to postural instability/gait difficulty score ratio)
Acute respiratory distress syndrome disease cluster belonging to disease group unknown
Lung cancer prognosis in former smokers
Asthma and eczema
Hand osteoarthritis severity (hand Klsum)
Finger osteoarthritis severity (hand Klsum)
Thumb osteoarthritis severity (hand Klsum)
A body shape index
Relative brain age
Complement factor H levels
Complement factor H-related protein 1 levels
Complement factor H-related protein 2 levels
Complement factor H-related protein 3 levels
Complement factor H-related protein 4A levels
Complement factor H-related protein 5 levels
Polycystic ovary syndrome (adjusted for age)
Polycystic ovary syndrome (adjusted for age and BMI)
DHEAS levels
BMI in non-smokers
Perceived unattractiveness to mosquitoes
Mosquito bite size
Seborrheic dermatitis A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.
Energy expenditure (24h)
Resting metabolic rate
Left ventricular function change in anthracycline treatment
Body mass index (joint analysis main effects and physical activity interaction)
Residual cognition
Body mass index (joint analysis main effects and smoking interaction)
Waist circumference adjusted for BMI in non-smokers
Body mass index (physical activity interaction)
BMI in smokers
Waist-to-hip ratio adjusted for BMI in non-smokers
Waist circumference adjusted for BMI in smokers
Blood pressure traits (multi-trait analysis)
Interleukin-6 (red blood cell fatty acid level interaction)
Intercellular adhesion molecule 1 (red blood cell fatty acid level interaction)
Monocyte chemoattractant protein-1 (red blood cell fatty acid level interaction)
Tumor necrosis factor receptor II (red blood cell fatty acid level interaction)
C-reactive protein (red blood cell fatty acid level interaction)
Elevated serum prostate-specific antigen levels in healthy men
Waist-to-hip ratio adjusted for BMI in smokers
Prevalent type 2 diabetes
White blood cell count (eosinophil)
White blood cell count (lymphocyte)
White blood cell count (monocyte)
Alcohol dependence or chronic alcoholic pancreatitis or alcohol-related liver cirrhosis
White blood cell count (neutrophil)
Waist-to-hip ratio adjusted for BMI (adjusted for smoking behaviour)
Waist-to-hip ratio adjusted for BMI (smoking interaction)
Waist circumference adjusted for BMI (smoking interaction)
Peak insulin response
Acute insulin response
Insulin secretion rate
Peak insulin response (BMI and insulin secretion adjusted)
Peak insulin response (insulin secretion adjusted)
Acute insulin response (insulin secretion adjusted)
Bone ultrasound measurement (velocity of sound)
Bone ultrasound measurement (broadband ultrasound attenuation)
Bone erosion in rheumatoid arthritis
Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)
Body mass index in physically active individuals
Body mass index in physically inactive individuals
Waist circumference adjusted for BMI in active individuals
Survival in pancreatic cancer
Waist circumference adjusted for BMI (adjusted for smoking behaviour)
BMI (smoking interaction)
Time-dependent creatinine clearance change response to tenofovir treatment in HIV infection (time and treatment arm interaction)
Venlafaxine response in generalised anxiety disorder (HAMA-A score reduction after 24 weeks)
Venlafaxine response in generalised anxiety disorder (responders vs non-responders after 12 weeks)
Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 24 weeks)
Venlafaxine response in generalised anxiety disorder (remitters vs non-remitters after 12 weeks)
Venlafaxine response in generalised anxiety disorder (responders vs non-responders after 24 weeks)
Nevirapine-induced hypersensitivity in HIV (drug-induced liver injury)
Nevirapine-induced hypersensitivity in HIV (Stevens-Johnson syndrome or toxic epidermal necrosis)
Nevirapine-induced hypersensitivity in HIV
Acute graft versus host disease in bone marrow transplantation (recipient effect)
Acute graft versus host disease in bone marrow transplantation (donor effect)
Response to statins (HDL cholesterol change)
Waist circumference adjusted for BMI in inactive individuals
Waist-to-hip ratio adjusted for BMI in active individuals
Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan)
Subclinical trait of interstitial lung disease (basilar peel-core ratio of high attentuation areas on CT scan)
Subclinical trait of interstitial lung disease (percentage of high attenuation areas on CT scan)
Western dietary pattern
Prudent dietary pattern
Theory of mind score in adolescence (Emotional Triangles Task)
Systolic blood pressure x smoking status (current vs non-current) interaction (1df test)
Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)
Diastolic blood pressure x smoking status (current vs non-current) interaction (1df test)
Gout vs. Hyperuricemia
Body mass index (age <50)
Body mass index x age interaction
Waist-to-hip ratio adjusted for BMI (age <50)
Waist-to-hip ratio adjusted for BMI (age >50)
Body mass index (age>50)
Very low density lipoprotein cholesterol levels
Food allergy (parent-of-origin effect)
Peanut allergy (parent-of-origin effect)
Milk allergy (parent-of-origin effect)
Egg allergy (parent-of-origin effect)
Food allergy (maternal genetic effects)
Peanut allergy (maternal genetic effects)
Heart rate increase in response to exercise
Heart rate response to recovery post exercise (40 sec)
Heart rate response to recovery post exercise (30 sec)
Heart rate response to recovery post exercise (50 sec)
Heart rate response to recovery post exercise (10 sec)
Heart rate response to recovery post exercise (20 sec)
Milk allergy (maternal genetic effects)
Egg allergy (maternal genetic effects)
Sperm motility Any process involved in the controlled movement of a sperm cell.
Blood osmolality (transformed sodium)
Neuritic plaques or neurofibrillary tangles or cerebral amyloid angiopathy (pleiotropy)
Neuritic plaques or neurofibrillary tangles (pleiotropy)
Neuritic plaques or cerebral amyloid angiopathy (pleiotropy)
Neurofibrillary tangles or cerebral amyloid angiopathy (pleiotropy)
Body mass index x sex x age interaction (4df test)
Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)
Waist-to-hip ratio adjusted for BMI x sex interaction
Coronary atherosclerosis (increased number of diseased vessels) (traffic exposure interaction)
Urinary magnesium-to-creatinine ratio
Serum magnesium levels
Lipoprotein-associated phospholipase A2 activity change in response to darapladib treatment in cardiovascular disease
Lipoprotein phospholipase A2 activity in cardiovascular disease
Major coronary event in placebo-treated cardiovascular disease (time to event)
Major coronary event in cardiovascular disease (time to event) (darapladib treatment interaction)
Moderate or severe diarrhoea in darapladib-treated cardiovascular disease (time to event)
Diarrhoea in darapladib-treated cardiovascular disease (time to event)
GIP levels in response to oral glucose tolerance test (120 minutes)
Glucagon levels in response to oral glucose tolerance test (120 minutes)
Insulin levels in response to oral glucose tolerance test (fasting)
Glucagon levels in response to oral glucose tolerance test (fasting)
GIP levels in response to oral glucose tolerance test (fasting)
GLP-1 levels in response to oral glucose tolerance test (fasting)
Insulin levels in response to oral glucose tolerance test (30 minutes)
Insulin levels in response to oral glucose tolerance test (120 minutes)
GLP-1 levels in response to oral glucose tolerance test (120 minutes)
NHDL cholesterol to HDL cholesterol ratio
LDL cholesterol to HDL cholesterol ratio
Triglyceride to HDL cholesterol ratio
Lung function (maximal voluntary ventilation)
Decline in glucose metabolism in posterior cingulate cortex
Uncontrolled blood pressure in combination therapy (beta blocker and thiazide diuretic)
Diastolic blood pressure in combination therapy (beta blocker and thiazide diuretic)
Pulmonary arterial hypertension
Pursuit maintenance gain in psychotic disorders
Initial pursuit acceleration
Pursuit maintenance gain
Initial pursuit acceleration in psychotic disorders
Anti-saccade error rate in psychotic disorders
Breast cancer in childhood cancer survivors treated with less than 10 gray radiotherapy
Breast cancer in childhood cancer survivors treated with more than 10 gray radiotherapy
Breast cancer in childhood cancer survivors
Heart rate response to beta blockers
Chronic venous disease
Diastolic blood pressure (cigarette smoking interaction)
Open-angle glaucoma and optic cup area
Open-angle glaucoma and vertical cup-disc ratio
Primary vesicoureteric reflux
Sepsis in extremely premature infants
Uric acid clearance
Diastolic blood pressure x alcohol consumption interaction (2df test)
Triacylglycerol 56:6 levels
Tyrosine levels
Malate levels
Metabolite risk score for predicting weight gain
Sphingomyelin 24:0 levels
Triacylglycerol 56:2 levels
Niacinamide levels
Parental longevity (combined parental attained age, Martingale residuals)
Parental longevity (both parents in top 10%)
Parental longevity (mother's age at death)
Mental health study participation (provided email address)
Mental health study participation (completed survey)
Diabetic maculopathy with decreased visual acuity in type 2 diabetes
HDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)
Triglyceride levels in current drinkers
Mild to moderate chronic kidney disease
LDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)
Response to SSRI (symptom remission)
Response to antidepressants (symptom remission)
Parental longevity (mother's attained age)
Parental longevity (father's age at death)
Parental longevity (father's attained age)
Bone mineral density (lumbar spine) in inflammatory bowel disease
Bone mineral density (femoral neck) in inflammatory bowel disease
Parental longevity (combined parental age at death)
Appendectomy
Regular attendance at a gym or sports club
Regular attendance at a pub or social club
Ability to confide in someone
Regular attendance at a religious group
Loneliness (MTAG)
Hippocampal volume in mild cognitive impairment
Logical memory (immediate recall) in mild cognitive impairment
Logical memory (delayed recall) in mild cognitive impairment
Cerebrospinal AB1-42 levels in normal cognition
Logical memory (immediate recall) in Alzheimer's disease dementia
Cerebrospinal fluid t-tau levels in Alzheimer's disease dementia
Logical memory (delayed recall) in Alzheimer's disease dementia
Cerebrospinal AB1-42 levels in mild cognitive impairment
Cerebrospinal fluid p-tau levels in Alzheimer's disease dementia
Cerebrospinal fluid t-tau levels in mild cognitive impairment
Hippocampal volume in Alzheimer's disease dementia
Cerebrospinal fluid p-tau levels in mild cognitive impairment
Cerebrospinal fluid t-tau levels in normal cognition
Cerebrospinal fluid p-tau levels in normal cognition
Hippocampal volume in normal cognition
Logical memory (immediate recall) in normal cognition
Logical memory (delayed recall) in normal cognition
Cerebrospinal fluid p-tau levels
Logical memory (immediate recall)
Logical memory (delayed recall)
Childhood dental caries in primary teeth
Childhood dental caries in permanent teeth
Fatty acid desaturase activity (serum)
Fatty acid desaturase activity (adipose tissue)
Diabetic retinopathy (all NPDR and PDR)
Alcohol withdrawal symptoms
LDL cholesterol levels in current drinkers
HDL cholesterol levels in current drinkers
Benign prostatic hyperplasia and lower urinary tract symptoms
Triglyceride levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)
Chronic mountain sickness
LDL cholesterol levels x alcohol consumption (drinkers vs non-drinkers) interaction (2df)
Number of alcoholic drinks required to feel an effect (first five times drinking)
Number of alcoholic drinks required to feel an effect (long-term average)
Platelet reactivity measurement (collagen-ADP)
Platelet reactivity measurement (collagen-epinephrine)
End-stage kidney disease
Left ventricular mass x antihypertensive treatment interaction
Relative wall thickness x antihypertensive treatment interaction
Systemising
Treatment resistant depression
Depressive symptom improvement
Schizophrenia vs type 2 diabetes
Schizophrenia and type 2 diabetes
PEG-asparaginase hypersensitivity without enzyme activity in childhood acute lymphoblastic leukaemia
Attention function
Verbal memory
Reasoning Thinking that is coherent and logical.
Fasting glucose change
Fasting glucose change (long-term)
Fasting glucose change (short-term)
Decreased fine motor function in Charcot-Marie-Tooth disease 1A (eating with utensils)
Hearing loss in Charcot-Marie-Tooth disease 1A
Non-muscle-invasive bladder cancer tumour size
Urinary sodium excretion
Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
Alcoholic chronic pancreatitis
Breast cancer, ovarian cancer or prostate cancer (pleiotropy)
Modified Stumvoll Insulin Sensitivity Index (BMI interaction)
Modified Stumvoll Insulin Sensitivity Index
Modified Stumvoll Insulin Sensitivity Index (model adjusted for BMI)
Spontaneous dizygotic twinning
Serum sulfate level
Caudate volume in trauma-exposed individuals
Nucleus accumbens volume in trauma-exposed individuals
Lateral ventricle volume in trauma-exposed individuals
Duloxetine response in major depressive disorder (% change in symptom score)
Placebo response in major depressive disorder (% change in symptom score)
B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio
Midregional pro atrial natriuretic peptide levels
N-terminal pro B-type natriuretic peptide levels
Branched-chain amino acid levels (Isoleucine)
Branched-chain amino acid levels (Leucine)
Branched-chain amino acid levels (Valine)
Common carotid intima-media thickness in HIV negative individuals
Common carotid intima-media thickness in HIV infection
Common carotid intima-media thickness
High altitude adaptation
Coronary artery calcified atherosclerotic plaque (90 or 130 HU threshold) in type 2 diabetes
Intelligence (MTAG)
Serum uric acid levels in response to allopurinol in gout
Response to metformin in type 2 diabetes (HbA1c reduction)
Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)
Immunoglobulin A vasculitis
Recurrent major depressive disorder
Thrombin-activatable fibrinolysis inhibitor levels disease cluster belonging to disease group hematological
Thrombin-activatable fibrinolysis inhibitor activation peptide
Obsessive-compulsive disorder or autism spectrum disorder
Lower body strength
Circulating chemerin levels
Matrix metalloproteinase-8 levels
Subcutaneous adipose tissue (sex interaction)
Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes
Coronary artery calcified atherosclerotic plaque score in type 2 diabetes
Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)
Differentiated thyroid cancer
Papillary thyroid cancer disease cluster belonging to disease group cancer
Forced expiratory volume in 1 second (environmental tobacco smoke interaction)
Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
HDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
LDL cholesterol change in response to fenofibrate in statin-treated type 2 diabetes
Triglyceride change in response to fenofibrate in statin-treated type 2 diabetes
QT interval (ambient particulate matter interaction)
Apolipoprotein A-IV levels
Bronchial hyperresponsiveness in asthma
Benign prostatic hyperplasia and/or lower urinary tract symptoms
Change in LVEF in response to paclitaxel and trastuzumab in HER2+ breast cancer
Methotrexate-induced interstitial lung disease in rheumatoid arthritis
Lobe attachment (rater-scored or self-reported)
Lobe attachment (rater scored)
Alloimmunization response to pregnancy (HLA class I)
Cardiometabolic and hematological traits
Huntington's disease progression
Sarcoidosis (non-Lofgren's syndrome)
Sarcoidosis (non-Lofgren's syndrome without extrapulmonary manifestations)
Sarcoidosis (Lofgren's syndrome vs non-Lofgren's syndrome)
Epstein-Barr virus copy number in lymphoblastoid cell lines
B cell acute lymphoblastic leukaemia (normal cytogenetics)
B cell acute lymphoblastic leukaemia (hyperdiploid negative)
B cell acute lymphoblastic leukaemia (Philadelphia chromosome negative)
B cell acute lymphoblastic leukaemia (abnormal cytogenetics)
B cell acute lymphoblastic leukaemia in young adulthood
B cell acute lymphoblastic leukaemia in adulthood
Sarcoidosis (Lofgren's syndrome)
Taxane-induced peripheral neuropathy in breast cancer
Brain volume in infants (white matter)
Brain volume in infants (cerebrospinal fluid)
Brain volume in infants (grey matter)
Brain volume in infants (intracranial brain volume)
Ratio of apolipoprotein A1 to apolipoprotein B
Esterified cholesterol levels
Free cholesterol levels
Total cholesterol levels in HDL
Total cholesterol levels in LDL
TB-LM or TBLH-BMD (pleiotropy)
Severe gingival inflammation
Relapse in multiple sclerosis
Familial hepatitis B virus-related hepatocellular carcinoma
Language performance in older adults (adjusted for episodic memory)
Foot ulcer in diabetes and neuropathy
Cognitive ability (MTAG)
Cognitive ability
Subjective response to lithium treatment
Subjective response to lithium treatment in bipolar disorder
Objective response to lithium treatment
Objective response to lithium treatment in bipolar disorder
Interleukin-1-receptor antagonist levels
Response to exercise (triglyceride level interaction)
Luteinizing hormone levels in polycystic ovary syndrome
Testosterone levels in polycystic ovary syndrome
Helping behaviour (self reported)
Neovascular age-related macular degeneration
Accelerated cognitive decline after conversion of mild cognitive impairment to Alzheimer's disease (Alzhiemer's diagnosis trajectory interaction)
Sporadic neuroblastoma
Bone fracture in osteoporosis
P wave terminal force
Rubella-specific interleukin-6 secretion
Low vWF levels
Estrone levels
Event free survival in diffuse large B-cell lymphoma treated with immunochemotherapy
Atazanavir levels
Opioid requirements during laparoscopic-assisted colectomy
Waist-to-hip ratio adjusted for BMI in inactive individuals
Plasma trimethylamine N-oxide levels
Cleft palate An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate.
Response to radiotherapy in prostate cancer (toxicity, urinary frequency)
Toxicity response to radiotherapy in prostate cancer (decreased urine stream) (time to event)
Immunoglobulin light chain (AL) amyloidosis (liver involvement)
Immunoglobulin light chain (AL) amyloidosis (serum Ig lambda profile)
Immunoglobulin light chain (AL) amyloidosis (serum IgG profile)
Vitamin D levels (dietary vitamin D intake interaction)
Plasma kynurenine levels in major depressive disorder
Plasma kynurenine to tryptophan ratio in major depressive disorder
Clinically amyopathic dermatomyositis
Disease progression in age-related macular degeneration
Disease progression in age-related macular degeneration (adjusted for baseline)
Disease progression to geographic atrophy form in age-related macular degeneration
Disease progression to choroidal neovascularization form in age-related macular degeneration
Phospholipid levels in medium VLDL
Very large VLDL particle concentration
Brain glucose metabolism (fluorodeoxyglucose uptake)
Maximum habitual alcohol consumption
Anti-Toxoplasma gondii IgG seropositivity
Keratinocyte cancer (MTAG)
Infant, child and juvenile death in continuous marriage (proportion of children died <15 years)
Number of stillbirths in continuous marriage
Oxygenated hemoglobin levels
Number of live births
Nonobstructive coronary artery disease
Multiple sclerosis and systolic blood pressure (pleiotropy)
Multiple sclerosis and body mass index (pleiotropy)
Multiple sclerosis and waist-to-hip-ratio (pleiotropy)
Multiple sclerosis and type 2 diabetes (pleiotropy)
Multiple sclerosis and C-reactive protein levels (pleiotropy)
Multiple sclerosis and triglyceride levels (pleiotropy)
Multiple sclerosis and LDL levels (pleiotropy)
Multiple sclerosis and HDL levels (pleiotropy)
Angiotensin-converting enzyme inhibitor intolerance
Multiple keratinocyte cancers
Gait speed in old age
Asthma or allergic disease (pleiotropy)
Type 2 diabetes (age of onset)
Depressive symptom measurement or major depressive disorder
Possible neuropathic pain in post total joint replacement surgery for osteoarthritis
Heparin-induced thrombocytopenia Low platelet count following administration of unfractionated or (less commonly) low-molecular weight heparin.
T wave morphology restitution during exercise (MTAG)
T wave morphology restitution during exercise
T wave morphology restitution during recovery from exercise
T wave morphology restitution during recovery from exercise (MTAG)
Minimum ankle–brachial index
Change in quality of life in response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease
Response to fluticasone propionate/salmeterol in chronic obstructive pulmonary disease
Chromosomal aberration frequency (chromosome type) in genotoxic compound exposure
Chromosomal aberration frequency (total)
High chromosomal aberration frequency (chromatid type)
Chromosomal aberration frequency (chromatid type)
High chromosomal aberration frequency (chromosome type)
Chromosomal aberration frequency (chromosome type)
High chromosomal aberration frequency (total)
High chromosomal aberration frequency (chromatid type) in genotoxic compound exposure
Chromosomal aberration frequency (chromatid type) in genotoxic compound exposure
High chromosomal aberration frequency (chromosome type) in genotoxic compound exposure
Change in neurofilament light levels
Tendinopathy
Peripheral artery disease (borderline)
Fagerstrӧm test for nicotine dependence
Time to smoke first cigarette in the morning
Hydrolysed wheat protein allergy
Bipolar II disorder
Sweet taste perception in obesity with metabolic syndrome
Salty taste perception in obesity with metabolic syndrome
Sour taste perception in obesity with metabolic syndrome
Umami taste perception in obesity with metabolic syndrome
Taste perception (total score including 6-n-propylthiouracil) in obesity with metabolic syndrome
Bitter taste perception (6-n-propylthiouracil) in obesity with metabolic syndrome
Bitter taste perception (phenylthiocarbamide) in obesity with metabolic syndrome
Severe gastric atrophy
Pepsinogen I/II ratio
Gastric atrophy
HDL cholesterol levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)
Triglyceride levels x alcohol consumption (regular vs non-regular drinkers) interaction (2df)
Parental longevity (mother's age at death or mother's attained age)
Liver disease biomarker
Verbal cognitive ability
Numerical cognitive ability
Figural/spatial cognitive ability
Moderate-to-late spontaneous preterm birth
Spontaneous preterm birth with premature rupture of membranes
Spontaneous preterm birth without premature rupture of membranes
Gestational age at birth (child effect)
Early spontaneous preterm birth
Asthma and attention deficit hyperactivity disorder
Asthma and major depressive disorder
Response to allopurinol in gout (change in serum uric acid levels)
Cytokine levels
Cytokine network levels (multivariate analysis)
Subpleural-predominant interstitial lung abnormalities
Interstitial lung abnormalities
Antipsychotic drug-induced weight gain in schizophrenia
Antipsychotic drug-induced weight gain in schizophrenia or autism
Phenylephrine infusion rate during anesthesia
Number of decayed, missing and filled tooth surfaces or use of dentures
Number of decayed, missing and filled tooth surfaces
Dentures
Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)
Plasma anti-thyroid peroxidase levels
Plasma anti-thyroglobulin levels
Post-term birth
Response to adalimumab in hidradenitis suppurativa (abscess and inflammatory nodule count increase)
High-grade serous ovarian cancer
Epigenetic age acceleration in alcohol use disorder
Alcohol dependence or heroin dependence or methamphetamine dependence
Rate of ventricular enlargement
Pancreatic ductal adenocarcinoma A pancreas adenocarcinoma that derives_from pancreatic duct cells.
Age-related cognitive decline (global cognition) (slope of z-scores)
Age-related cognitive decline (executive function) (slope of z-scores)
Age-related cognitive decline (language) (slope of z-scores)
Age-related cognitive decline (memory) (slope of z-scores)
Planum temporale asymmetry index
Urinary potassium excretion
Chronic lymphocytic leukemia or multiple sclerosis
Diffuse large B-cell lymphoma or multiple sclerosis
Follicular lymphoma or multiple sclerosis
Marginal zone lymphoma or multiple sclerosis
Chronic lymphocytic leukemia or rheumatoid arthritis
Diffuse large B-cell lymphoma or rheumatoid arthritis
Follicular lymphoma or rheumatoid arthritis
Marginal zone lymphoma or rheumatoid arthritis
Chronic lymphocytic leukemia or systemic lupus erythematosus
Diffuse large B-cell lymphoma or systemic lupus erythematosus
Marginal zone lymphoma or systemic lupus erythematosus
Plasma factor V levels in venous thrombosis
Plasma factor V levels in venous thrombosis (conditioned on rs6027)
Non-lobar intracerebral hemorrhage
Lobar intracerebral hemorrhage
Non-lobar intracerebral hemorrhage (MTAG)
Estimated glomerular filtration rate reduction (30%)
Incident chronic kidney disease
Neuroblastoma or malignant cutaneous melanoma
Recurrence of malaria infection (mild or asymptomatic)
Recurrence of mild malaria attacks
Body mass index variance
Basal metabolic rate variance
Waist circumference variance
Hip circumference variance
Lung function (FEV1/FVC) variance
Heel bone mineral density variance
Birth weight variance
Body fat percentage variance
Macroalbuminuria in type 1 diabetes
Microalbuminuria in type 1 diabetes
Chronic kidney disease (reduced eGFR or end stage renal disease) in type 1 diabetes
Chronic kidney disease (end stage renal disease vs. normal eGFR) in type 1 diabetes
Kidney disease (reduced eGFR and albuminuria or end stage renal disease) in type 1 diabetes
Kidney disease (end stage renal disease or albuminuria) in type 1 diabetes
Longevity (age >90th survival percentile)
Longevity (age >99th survival percentile)
Stress sensitivity (neuroticism score x major depressive disorder status interaction)
Asthma (time to onset)
Degraded stimulus continuous performance test score
Letter-number span reordering
Prepulse inhibition of the startle response
Antisaccade task score
Abstraction and mental flexibility
Face memory
Sensorimotor dexterity
California verbal learning test score
Spatial processing
Spatial memory
Retinal arteriolar tortuosity The presence of an increased number of twists and turns of the retinal arterioles.
Maximum retinal arteriolar tortuosity
Retinal venular tortuosity
Maximum retinal venular tortuosity
Retinal arteriole-to-venule ratio
Optic disc radius
Skin aging measurement
Early onset periodontitis x smoking status interaction
Working memory
Cognitive performance (processing speed)
Schizophrenia or schizoaffective disorder
Non-accommodative esotropia
Longitudinal cocaine use
White coat effect (clinic systolic blood pressure minus ambulatory systolic blood pressure)
White coat effect (clinic diastolic blood pressure minus ambulatory diastolic blood pressure)
Age at suicide
Dental caries (decayed, missing and filled teeth)
Dental caries (decayed and filled deciduous teeth)
Dental caries (decayed, missing and filled tooth surfaces)
Dental caries (decayed and filled deciduous tooth surfaces)
Childhood absence epilepsy A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years.
Juvenile myoclonic epilepsy A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
Focal epilepsy (with hippocampal sclerosis)
Focal epilepsy An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.
B6 vitamer levels (multivariate analysis)
Cerebrospinal fluid pyridoxal phosphate levels
Plasma pyridoxal phosphate levels
Cerebrospinal fluid pyridoxal phosphate to pyridoxal ratio
Plasma pyridoxic acid to pyridoxal phosphate ratio
Response to ketamine in bipolar disorder or major depression (antidepressant effects)
Response to ketamine in bipolar disorder or major depression (dissociation effects)
Age-related cognitive decline (visuospatial skill) (slope of z-scores)
Age-related cognitive decline (attention/processing speed) (slope of z-scores)
Red vs. brown/black hair color
Blond vs. brown/black hair color
Brown vs. black hair color
Systemic seropositive rheumatic diseases (Systemic sclerosis or systemic lupus erythematosus or rheumatoid arthritis or idiopathic inflammatory myopathies)
Response to beta blocker use in hypertension (systolic blood pressure)
Adventurousness
Smoking status (ever vs never smokers)
Automobile speeding propensity
Number of sexual partners
General risk tolerance (MTAG)
Risk-taking tendency (4-domain principal component model)
Severe insulin-deficient type 2 diabetes
Severe insulin-resistant type 2 diabetes
Severe autoimmune type 2 diabetes
Mild obesity-related type 2 diabetes
Mild age-related type 2 diabetes
Alcohol-related hepatocellular carcinoma
Systemic vasculitis
Age at menarche The age of onset of (human) menarche, the beginning of the first menstrual cycle in an individual
Cisplatin-induced hearing loss in childhood cancer
Chronic widespread musculoskeletal pain
Arthritis (oligoarticular juvenile idiopathic)
Amyloid beta positivity
Peak height velocity
Hypoalbuminemia Reduction in the concentration of albumin in the blood.
Albuminuria The presence of albumin in the urine, an indicator of KIDNEY DISEASES.
Extrahepatic cholangiocarcinoma
Cerebral amyloid angiopathy in APOEe4 carrier Alzheimer’s disease
Cerebral amyloid angiopathy in APOEe4 non-carrier Alzheimer’s disease
Cerebral amyloid angiopathy x APOEe4 status interaction in Alzheimer’s disease
Cerebral amyloid angiopathy in Alzheimer’s disease
Cerebral amyloid angiopathy x sex interaction in Alzheimer’s disease
Fasting insulin
Facial skin colour (CIELAB index L* value)
Facial skin colour (CIELAB index b* value)
Serum vitamin D-binding protein levels in type 2 diabetes
Bioavailable vitamin D levels in type 2 diabetes
Hemoglobin levels in non-alcoholic fatty liver disease x mastiha supplementation interaction
Total antioxidant status in non-alcoholic fatty liver disease x mastiha supplementation interaction
Interleukin-6 levels in non-alcoholic fatty liver disease x mastiha supplementation interaction
Interleukin-6 gene expression levels in non-alcoholic fatty liver disease x mastiha supplementation interaction
TNF-alpha gene expression levels in non-alcoholic fatty liver disease x mastiha supplementation interaction
Interleukin-10 levels in non-alcoholic fatty liver disease x mastiha supplementation interaction
Glutathione peroxidase in non-alcoholic fatty liver disease x mastiha supplementation interaction
Bipolar disorder (early vs late onset)
Bullous pemphigoid An autoimmune disease of skin and connective tissue characterized by large blisters.
Anterior thalamic nuclei volume
Intralaminar thalamic nuclei volume
Lateral thalamic nuclei volume
Medial thalamic nuclei volume
Posterior thalamic nuclei volume
Ventral thalamic nuclei volume
hemolysis of donated blood (osmotic)
hemolysis of donated blood (oxidative)
hemolysis of donated blood (cold-storage)
Motor coordination
Haemorrhoidal disease
Cervical intraepithelial neoplasia grade 3 disease cluster belonging to disease group cancer
Invasive cervical cancer
Cervical intraepithelial neoplasia grade 3 and invasive cervical cancer
Vitamin C levels
Retinitis pigmentosa A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss.
Congenital heart disease (transposition of the great arteries)
Congenital heart disease (septal defects)
Congenital right-sided heart lesions
Congenital heart disease (anomalies of thoracic arteries and veins)
Intestinal permeability measurement
Chronic obstructive pulmonary disease x ever smoker interaction (2df)
Chronic obstructive pulmonary disease in ever smokers
Skin and soft tissue infections
Periodontitis (stage III/IV grade C)
Erythropoietin levels
S100 calcium-binding protein levels
Thymus and reactivation regulated chemokine levels
Longevity (100 years and older)
Brain asymmetrical skew (horizontal)
Brain asymmetrical skew (vertical)
Metastatic colorectal cancer survival in treatment with chemotherapy plus biologics
Surgical recurrence in Crohn's disease
Serum urate levels
Heel bone mineral density x serum urate levels interaction
Femur bone mineral density x serum urate levels interaction
Symptoms in placebo-treated COVID-19 outpatients at risk of severe disease (time to remission)
L1-L4 bone mineral density x serum urate levels interaction
Schizophrenia, bipolar disorder or major depressive disorder x sex interaction
Schizophrenia, bipolar disorder or major depressive disorder
Schizophrenia, bipolar disorder or major depressive disorder x sex interaction (3df)
Recurrent major depressive disorder x sex interaction
Major depressive disorder x sex interaction
Bipolar disorder x sex interaction
Schizophrenia x sex interaction
Frailty index
Cocaine dependence (time to event)
Opioid dependence (time to event)
Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction
Schizophrenia, bipolar disorder or recurrent major depressive disorder
ICD10 Z72.0: Tobacco use
Bevacizumab-induced hypertension
Bevacizumab-induced proteinuria
Bevacizumab-induced composite toxicity (either hypertension or proteinuria)
Alcohol drinking status (current drinker vs non-current drinker)
Sociability score
Attending social / leisure activities
Hypertensive renal disease
Plasma amyloid beta peptide concentration (ABx-40/ABx-42 ratio)
Chronic obstructive pulmonary disease x current smoker interaction (2df)
Chronic obstructive pulmonary disease x ever smoker interaction (1df)
Chronic obstructive pulmonary disease in non-current smokers
SAPHO syndrome
Severe coronary stenosis (young age of onset interaction)
Suicide attempt severity in mood disorders
Suicidality in mood disorders
Chronic obstructive pulmonary disease x current smoker interaction (main effect)
Chronic obstructive pulmonary disease x current smoker interaction (1df)
Chronic obstructive pulmonary disease in current smokers
Sun-seeking behavior
Response to antioxidants and zinc in age-related macular degeneration (disease progression)
Psoriasis or type 2 diabetes (trans-disease meta-analysis)
Language functional connectivity
Depression x maternal smoking during pregnancy interaction
Anxiety x maternal smoking during pregnancy interaction
Survival time in esophageal squamous cell carcinoma
Spleen volume
Liver volume
Pancreas volume
Kidney volume
Visceral adipose tissue volume
Abdominal subcutaneous adipose tissue volume
Percent liver fat
Liver iron content
Lung volume
Pancreas fat
Tonsillitis An upper respiratory tract disease which involves inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat (which may be experienced as referred pain to the ears), painful/difficult swallowing, coughing, headache, myalgia (muscle aches), fever and chills. Tonsillitis is characterized by signs of red, swollen tonsils which may have a purulent exudative coating of white patches (i.e. pus). Swelling of the cheeks and neck may occur.