Genpir
| Genomic risk prediction for common diseases and traits in the rural Pyrenean population Disease/Trait list |
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| Disease_group | Disease_descriptor | PRS_markers | Figures | Tables | PUBMED | EFO | GWASROCS |
|---|---|---|---|---|---|---|---|
| Cancer/Neoplasies | |||||||
| breast_and_genital_organs_cancer | Breast cancer | 33 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Breast cancer estrogen-receptor negative | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Disease-free survival in breast cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Endometrial cancer | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Epithelial ovarian cancer | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Ovarian cancer | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Uterine fibroids | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Cervical cancer | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Prostate cancer | 16 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Testicular germ cell cancer | 10 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Testicular germ cell tumor | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| gastrointestinal_cancer | Barrett-s esophagus | 4 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Colorectal cancer | 10 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Esophageal cancer | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Esophageal cancer and gastric cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Esophageal cancer squamous cell | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Gallbladder cancer | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Gastric cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hepatocellular carcinoma in hepatitis B infection | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Non-cardia gastric cancer | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Oral cavity and pharyngeal cancer | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Pancreatic cancer | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Primary biliary cholangitis | 15 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Survival in breast cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Survival in colorectal cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hepatitis C induced liver cirrhosis | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Cholangiocarcinoma in primary sclerosing cholangitis | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| haematopoietic_and_lymphoid_tissues_cancer | Acute lymphoblastic leukemia childhood | 4 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Chronic lymphocytic leukemia | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Diffuse large B cell lymphoma | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Follicular lymphoma | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hodgkin-s lymphoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Marginal zone lymphoma | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Multiple myeloma | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Myeloproliferative neoplasms | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| embryonary_neoplasm | Ewing sarcoma | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| endocrine_cancer | Sporadic pituitary adenoma | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| head_and_neck_cancer | Nasopharyngeal carcinoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| bladder_lung_and_kidney_cancer | Wilms tumor | 6 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Idiopathic pulmonary fibrosis | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Lung adenocarcinoma | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Non-small cell lung cancer | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Bladder cancer | 9 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Urinary bladder cancer | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| eye_brain_and_central_nervous_system_cancer | Glioblastoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Glioma high-grade | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Meningioma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Neuroblastoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Sporadic neuroblastoma | 7 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| skin_cancer | Basal cell carcinoma | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Melanoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Squamous cell carcinoma | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Diseases/Disorders | |||||||
| infectious_immune_system_diseases | Anti-dsDNA status | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Arthritis juvenile idiopathic | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Rheumatoid arthritis | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Sjögren-s syndrome | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Systemic lupus erythematosus | 12 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Allergic sensitization | 7 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Sarcoidosis | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Ulcerative colitis | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Chronic hepatitis B infection | 9 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Enteric fever | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hepatitis B | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hepatitis B viral clearance | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Leprosy | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Persistent hepatitis B virus infection | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| cardiovascular_system_diseases | Abdominal aortic aneurysm | 5 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Aortic valve stenosis | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Atrial fibrillation | 9 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Calcific aortic valve stenosis | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Cardiac repolarization | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Cardiovascular disease risk factor | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Carotid intima media thickness | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Congenital heart malformation | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Coronary artery disease | 26 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Coronary heart disease | 18 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hypertension | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Intracranial aneurysm | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Ischemic stroke cardioembolic | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Mitral valve prolapse | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Myocardial infarction | 22 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Pulmonary arterial hypertension | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Stroke | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Stroke ischemic | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Supraventricular ectopy | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Venous thromboembolism | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| endocrine-metabolic_diseases | Diabetic nephropathy | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Type I diabetes | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Type I diabetes nephropathy | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Type II diabetes | 21 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Early-onset obesity | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Graves disease | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Hypertriglyceridemia | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Immunoglobulin light chain AL amyloidosis | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Obesity early onset extreme | 11 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Thyroid volume | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| gastrointestinal_disease | Aggressive periodontitis | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Celiac disease | 18 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Combined Crohn-s disease and sarcoidosis | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Crohn-s disease | 38 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Diarrhoeal Disease | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| diarrhoeal disease at age 1 | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Infantile hypertrophic pyloric stenosis | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Inflammatory bowel disease | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Inflammatory bowel disease early onset | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Inguinal hernia | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Irritable bowel syndrome | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Pancreatitis | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Periodontitis | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Sclerosing cholangitis and ulcerative colitis combined | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| blood_cell_disease | Kawasaki disease | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| constitutional_medicine | Sasang constitutional medicine | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Facial_disorders | Craniofacial microsomia | 10 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Plantar fascial disorders | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| female_reproductive-genital_diseases | Endometriosis | 3 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Polycystic ovary syndrome | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Severity of nausea and vomiting of pregnancy | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| substance_dependence_disorder | Smoking behavior | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| musculoskeletal_system_diseases | Adolescent idiopathic scoliosis severe | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Dupuytren-s disease | 15 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Gout | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Knee osteoarthritis | 12 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Ossification of the posterior longitudinal ligament of the spine | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Osteoarthritis | 11 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Osteoporosis | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Renal gout | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| brain_disorder | Intracerebral hemorrhage | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Migraine | 26 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| nervous_system_diseases | Amyotrophic lateral sclerosis | 3 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Creutzfeldt-Jakob disease | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Dementia with Lewy bodies | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Epilepsy | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Mesial temporal lobe epilepsy with hippocampal sclerosis | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Multiple sclerosis | 9 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Restless legs syndrome | 13 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Taxane-induced peripheral neuropathy in breast cancer | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| mental_or_behavioural_diseases | Anorexia nervosa | 2 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Bipolar disorder | 9 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Major depressive disorder | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Narcolepsy | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Schizophrenia | 28 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| neurodegenerative_disease | Alzheimer-s disease | 20 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Alzheimer-s disease late onset | 21 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Parkinson-s disease | 19 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| renal-urinary_system_diseases | Chronic kidney disease | 4 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Kidney stones | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Renal function and chronic kidney disease | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Urate levels | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| respiratory_system_diseases | Asthma | 11 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Asthma and hay fever | 6 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Asthma childhood onset | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Bronchopulmonary dysplasia | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Chronic obstructive pulmonary disease | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Interstitial lung disease | 8 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| sensory_system_diseases | Age-related macular degeneration | 8 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Corneal astigmatism | 11 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Glaucoma | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Glaucoma primary open-angle | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Myopia pathological | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Myopic maculopathy | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Rhegmatogenous retinal detachment | 3 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Skin_and_soft_tissue_diseases | Acne severe | 9 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Atopic dermatitis | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Male-pattern baldness | 8 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Psoriasis | 19 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Psoriatic arthritis | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Systemic sclerosis | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Vitiligo | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Traits/measurements | |||||||
| anatomical-anthropometric_trait | Cleft lip | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Nonsyndromic cleft lip with or without cleft palate | 4 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| biological_process | Longevity | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Morning vs evening chronotype | 5 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| protein/enzyme_measurement | High serum lipase activity | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| sleep | Insomnia caffeine-induced | 1 | Figs | Tables | PUBMED | EFO | GWASROCS |
| trauma_and_injuries | Febrile seizures | 8 | Figs | Tables | PUBMED | EFO | GWASROCS |
| Fractures vertebral | 2 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| Pain | 1 | Figs | Tables | PUBMED | EFO | GWASROCS | |
| vital_sign_measure | Mortality in heart failure | 5 | Figs | Tables | PUBMED | EFO | GWASROCS |
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