| 1q21.1 microdeletion syndrome(5)
Disease |
| Abnormal circulating tyrosine concentration(1)
Phenotype |
| Abnormal Lung Morphology(4)
Phenotype |
| Abnormal Renal Filtration(1)
Others |
| Abnormal Thrombosis(1)
Phenotype |
| Abnormality Of The Cardiovascular System(17)
Phenotype |
| Abnormality Of The Liver(3)
Phenotype |
| Achilles Bursitis(2)
Disease |
| Acute Lymphocytic Leukemia(6)
Disease |
| Acute Myeloid Leukemia(13)
Disease |
| Adrenoleukodystrophy(1)
Disease |
| Aganglionic Megacolon(2)
Phenotype |
| Age-Related Hearing Impairment(1)
Others |
| Airway Hyperresponsiveness(1)
Others |
| Alagille syndrome(1)
Disease |
| Allergic(1)
Others |
| Alzheimer's Disease(124)
Disease |
| Alzheimer's Disease 3(7)
Disease |
| Amyotrophic Lateral Sclerosis(36)
Disease |
| Angle-Closure Glaucoma(1)
Disease |
| Arrhythmia(37)
Phenotype |
| Arrhythmogenic right ventricular cardiomyopathy(1)
Disease |
| Arterial Stiffness Measurement(1)
Others |
| Arteriosclerosis(2)
Disease |
| Arthrogryposis syndrome(3)
Disease |
| Asthma(58)
Disease |
| Astrocytoma(40)
Disease |
| Atopic Dermatitis(1)
Disease |
| Atrial Fibrillation(2)
Disease |
| Attention Deficit Hyperactivity Disorder(2)
Disease |
| Autism spectrum disorder(1)
Disease |
| Autoimmune Hypersensitivity Disease(2)
Disease |
| Autoimmune lymphoproliferative syndrome(2)
Disease |
| Autosomal dominant keratitis-ichthyosis-deafness syndrome(1)
Disease |
| Autosomal Dominant Polycystic Kidney Disease(11)
Disease |
| Autosomal Dominant Torsion Dystonia 1(1)
Others |
| Axenfeld-Rieger syndrome(1)
Disease |
| Bardet-Biedl Syndrome(12)
Disease |
| Behcet's Disease(5)
Disease |
| Beta Thalassemia(36)
Disease |
| Beta-thalassemia intermedia(1)
Disease |
| Biliary Atresia(1)
Disease |
| Bipolar Disorder(1)
Disease |
| Bladder Benign Neoplasm(2)
Disease |
| Blepharophimosis, ptosis, and epicanthus inversus syndrome(1)
Disease |
| Blood Platelet Disease(4)
Disease |
| Breast Cancer(310)
Disease |
| Brugada Syndrome(5)
Disease |
| Camurati-Engelmann disease(1)
Disease |
| Cancer(11)
Disease |
| Cardiomyopathy(8)
Disease |
| Carotid Stenosis(1)
Disease |
| Cerebral Cavernous Malformation(33)
Disease |
| Cervical Cancer(13)
Disease |
| Charcot-Marie-Tooth Disease(3)
Disease |
| Charcot-Marie-Tooth Disease Type 1A(4)
Disease |
| Chronic Kidney Disease(2)
Disease |
| Chronic Obstructive Pulmonary Disease(4)
Disease |
| Cirrhosis(1)
Phenotype |
| Colorectal Cancer(25)
Disease |
| Compensatory Emphysema(2)
Disease |
| Cone-Rod Dystrophy(7)
Disease |
| Congenital Bilateral Absence Of Vas Deferens(1)
Disease |
| Congenital disorder of glycosylation(1)
Disease |
| Congenital erythropoietic porphyria(3)
Disease |
| Congenital Insensitivity To Pain With Hyperhidrosis(2)
Disease |
| Congenital nephrotic syndrome(3)
Phenotype |
| Congestive Heart Failure(7)
Disease |
| Coronary Artery Disease(48)
Disease |
| Cowden syndrome(15)
Disease |
| Craniofacial Dystonia(1)
Phenotype |
| Craniosynostosis(1)
Disease |
| Creutzfeldt-Jakob disease(1)
Disease |
| Crohn's Disease(11)
Disease |
| Cystic fibrosis(271)
Disease |
| Deafness(2)
Others |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia(1)
Disease |
| Dent disease(2)
Disease |
| Depressivity(3)
Phenotype |
| Dermal Atrophy(2)
Phenotype |
| Diabetes Mellitus(16)
Disease |
| Diabetic Retinopathy(1)
Disease |
| Diamond-Blackfan anemia(2)
Disease |
| Digeorge Syndrome(2)
Disease |
| Dilated Cardiomyopathy(25)
Disease |
| Distal myopathy(1)
Disease |
| Duchenne Muscular Dystrophy(11)
Disease |
| Dystonia(1)
Disease |
| Early Human Pregnancy(1)
Others |
| Early-onset generalized limb-onset dystonia(1)
Disease |
| Ectodermal Dysplasia(1)
Disease |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome(1)
Disease |
| Elevated Systolic Blood Pressure(1)
Phenotype |
| Ellis Van Creveld syndrome(1)
Disease |
| Emery-Dreifuss muscular dystrophy(5)
Disease |
| Endometrial Carcinoma(2)
Disease |
| Epidermolysis bullosa simplex localized type(1)
Disease |
| Esophageal Basaloid Squamous Cell Carcinoma(5)
Disease |
| Esophageal cancer(1)
Disease |
| Facioscapulohumeral dystrophy(2)
Disease |
| Facioscapulohumeral muscular dystrophy(2)
Disease |
| Familial Adenomatous Polyposis(2)
Disease |
| Familial amyloid polyneuropathy(2)
Disease |
| Familial Combined Hyperlipidemia(22)
Disease |
| Familial hypercholesterolemia(4)
Disease |
| Familial Hypertrophic Cardiomyopathy(2)
Disease |
| Familial Hypocalciuric Hypercalcemia(1)
Disease |
| Familial long QT syndrome(2)
Disease |
| Familial Mediterranean Fever(9)
Disease |
| Frailty Measurement(5)
Others |
| Free Sialic Acid Storage Disease(1)
Disease |
| Friedreich Ataxia(1)
Disease |
| Frontotemporal Dementia(8)
Disease |
| Gaucher's Disease(16)
Disease |
| Gaucher's Disease Type I(2)
Disease |
| Generalized Seizures(1)
Phenotype |
| Genetic 46,XY disorder of sex development(1)
Disease |
| Glomerulonephritis(2)
Disease |
| Glycogen storage disease due to muscle glycogen phosphorylase deficiency(1)
Disease |
| Gorlin syndrome(7)
Disease |
| Grn-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions(3)
Disease |
| Gynaecopathia(16)
Others |
| Head And Neck Carcinoma(2)
Disease |
| Hearing Impairment(4)
Phenotype |
| Hearing loss(1)
Others |
| Heart conduction disease(1)
Disease |
| Heart failure(1)
Others |
| Hemochromatosis(5)
Disease |
| Hemochromatosis Type 1(24)
Disease |
| Hemoglobin H Disease(2)
Disease |
| Hemophilia A(1)
Disease |
| Hemophilia B(2)
Disease |
| Hepatitis C(2)
Disease |
| Hepatocellular Carcinoma(1)
Disease |
| Hereditary Breast Cancer(4)
Disease |
| Hereditary hemochromatosis type 1(1)
Disease |
| Hereditary Hemorrhagic Telangiectasia(2)
Disease |
| Hereditary hypophosphatemic rickets with hypercalciuria(1)
Disease |
| Hereditary nonpolyposis colon cancer(4)
Disease |
| Hereditary spastic paraplegia(2)
Disease |
| Holoprosencephaly(3)
Disease |
| Human Immunodeficiency Virus Infectious Disease(1)
Disease |
| Huntington's Disease(52)
Disease |
| Hyperekplexia(1)
Disease |
| Hyperhomocysteinemia(1)
Disease |
| Hypertension(10)
Disease |
| Hypertrophic Cardiomyopathy(18)
Disease |
| Hypophosphatasia(1)
Disease |
| Hypospadias(1)
Disease |
| Idiopathic Pulmonary Fibrosis(3)
Disease |
| Infantile myofibromatosis(1)
Disease |
| Inflammatory Bowel Disease(9)
Disease |
| Inherited prion disease(7)
Disease |
| Insulin Resistance(1)
Phenotype |
| Interstitial lung disease(1)
Disease |
| Interstitial Pulmonary Abnormality(1)
Phenotype |
| Irritant Dermatitis(4)
Disease |
| Ischemic Heart Disease(8)
Others |
| Ischemic Stroke(1)
Phenotype |
| Joubert syndrome(1)
Disease |
| Juvenile Rheumatoid Arthritis(2)
Disease |
| Kidney Disease(4)
Others |
| Lafora disease(1)
Disease |
| Leber Congenital Amaurosis(2)
Disease |
| Leber Hereditary Optic Neuropathy(3)
Disease |
| Leukemia(1)
Disease |
| Liver Lipoma(1)
Disease |
| Long QT Syndrome(65)
Disease |
| long QT syndrome 1(3)
Disease |
| Lung Adenocarcinoma(2)
Disease |
| Lung Carcinoma(5)
Disease |
| Lung disease(1)
Disease |
| Lung Non-Small Cell Carcinoma(1)
Disease |
| Lynch Syndrome(4)
Disease |
| Macular Corneal Dystrophy(5)
Disease |
| Marfan Syndrome(1)
Disease |
| Maturity-Onset Diabetes Of The Young(1)
Disease |
| Medium chain acyl-CoA dehydrogenase deficiency(1)
Disease |
| Medullary thyroid carcinoma(1)
Disease |
| Melanoma(34)
Disease |
| Mental Deterioration(6)
Phenotype |
| Metachromatic leukodystrophy(1)
Disease |
| Mevalonate kinase deficiency(2)
Disease |
| Migraine(3)
Disease |
| Motor Neuron Disease(8)
Disease |
| Moyamoya Disease(1)
Disease |
| Multiple Endocrine Neoplasia Type 2A(3)
Disease |
| Multiple Sclerosis(16)
Disease |
| Muscular Dystrophy(5)
Disease |
| Myocardial Infarction(2)
Disease |
| Myopathy(6)
Disease |
| Myostatin-Related Muscle Hypertrophy(1)
Disease |
| Myotonic Dystrophy Type 1(3)
Disease |
| Necrosis(35)
Others |
| Neonatal Hyperbilirubinemia(1)
Phenotype |
| Nephronophthisis(1)
Disease |
| Nephropathy(2)
Phenotype |
| Nephrotic Syndrome(1)
Disease |
| Neural Tube Defects, Susceptibility To(5)
Disease |
| Neurodegeneration(3)
Phenotype |
| Neurodevelopmental Abnormality(2)
Phenotype |
| Neurofibromas(2)
Phenotype |
| Niemann-Pick Disease Type C(1)
Disease |
| Non-Hodgkin Lymphoma(2)
Disease |
| Nonalcoholic Fatty Liver Disease(120)
Disease |
| Obesity(54)
Disease |
| Oral Cavity Cancer(1)
Disease |
| Oral Squamous Cell Carcinoma(3)
Disease |
| Osteogenesis Imperfecta(1)
Disease |
| Osteoporosis(3)
Disease |
| Osteosarcoma(2)
Disease |
| Ovarian Cancer(265)
Disease |
| Pachyonychia Congenita(2)
Disease |
| Pain Insensitivity(1)
Phenotype |
| Pancreatic Cancer(6)
Disease |
| Papillary Thyroid Carcinoma(2)
Disease |
| Parkinson's disease(21)
Disease |
| Parkinsonism(6)
Phenotype |
| Patterned macular dystrophy(2)
Disease |
| Phenylketonuria(1)
Disease |
| Plasma Lipid Level(1)
Others |
| Pleuritis(1)
Phenotype |
| Polycystic Kidney Dysplasia(2)
Phenotype |
| Polycythemia Vera(1)
Disease |
| Prader-Willi syndrome(1)
Disease |
| Primary coenzyme Q10 deficiency 1(2)
Disease |
| Primary open angle glaucoma(4)
Disease |
| Primary Progressive Multiple Sclerosis(1)
Disease |
| Primary Sclerosing Cholangitis(1)
Disease |
| Prion Disease(2)
Disease |
| Procollagen Type I C-Terminal Peptide(3)
Others |
| Progressive Familial Intrahepatic Cholestasis 3(29)
Disease |
| Prostate Cancer(1)
Disease |
| Pseudoexfoliation(1)
Phenotype |
| Pseudoxanthoma Elasticum(25)
Disease |
| Psoriasiform Dermatitis(5)
Phenotype |
| Pulmonary arterial hypertension(1)
Phenotype |
| Pulmonary Fibrosis(1)
Disease |
| Pulmonary Hypertension(25)
Disease |
| Pulmonary tuberculosis(1)
Disease |
| Recessive dystrophic epidermolysis bullosa(1)
Disease |
| Relapsing-Remitting Multiple Sclerosis(1)
Disease |
| Renal Cell Carcinoma(2)
Disease |
| Replacement of bone marrow by fibrous tissue(1)
Others |
| Retinal Degeneration(1)
Disease |
| Retinitis Pigmentosa(6)
Disease |
| Rett Syndrome(1)
Disease |
| Rheumatoid Arthritis(6)
Disease |
| Sarcoma(3)
Disease |
| Schizophrenia(4)
Disease |
| Sclerosteosis(1)
Disease |
| Scoliosis(1)
Disease |
| Sepsis(39)
Phenotype |
| Septic shock(1)
Others |
| Severe congenital neutropenia(1)
Disease |
| Short Stature Homeobox Deficiency(1)
Others |
| Sickle Cell Anemia(352)
Disease |
| Skeletal Muscle Atrophy(4)
Phenotype |
| Smith-Lemli-Opitz Syndrome(1)
Disease |
| Soft Tissue Sarcoma(1)
Phenotype |
| Spinal Muscular Atrophy(4)
Disease |
| Spinocerebellar ataxia type 1(3)
Disease |
| Sporadic Breast Cancer(5)
Disease |
| Squamous Cell Carcinoma(5)
Disease |
| Stomach Cancer(2)
Disease |
| Susceptibility To Human Immunodeficiency Virus Type 1(2)
Disease |
| Systemic Inflammatory Response Syndrome(1)
Others |
| Systemic Lupus Erythematosus(7)
Disease |
| Systemic Scleroderma(2)
Disease |
| Thalassemia(6)
Disease |
| Thoracic Aortic Aneurysm(13)
Disease |
| Thrombocytosis(1)
Disease |
| Thrombotic thrombocytopenic purpura(2)
Disease |
| Thyroid Cancer(1)
Disease |
| Thyroid Carcinoma(4)
Disease |
| Thyroid hormone resistance syndrome(1)
Disease |
| Tropical Pancreatitis(3)
Disease |
| Tuberous sclerosis complex(1)
Disease |
| Type 1 Diabetes Mellitus(23)
Disease |
| Type 2 Diabetes Mellitus(50)
Disease |
| Usher syndrome type 1(4)
Disease |
| Ventricular Hypertrophy(1)
Phenotype |
| Von Willebrand's Disease(1)
Disease |
| West syndrome(4)
Disease |
| Wilson Disease(14)
Disease |
| X-linked Alport syndrome(1)
Disease |
| X-linked intellectual disability-retinitis pigmentosa syndrome(2)
Disease |
| X-linked severe combined immunodeficiency(1)
Disease |