Myofibrillar Myopathy,Cockayne Syndrome,Breast Cancer,Xeroderma Pigmentosum, Complementation Group D,Xeroderma Pigmentosum, Variant Type,Xeroderma Pigmentosum, Complementation Group B

Parkinson Disease, Late-Onset

Coronary Artery Vasospasm,Dextrocardia,Ureteral Obstruction,Breast Cancer,Tongue Squamous Cell Carcinoma,Hypertension, Essential

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

Adult Hepatocellular Carcinoma,Breast Papillomatosis,Esophageal Disease,Pancreatic Adenocarcinoma,Muscular Disease,Skin Melanoma,Liver Disease,Mitral Valve Disease,Heart Disease,Neurofibromatosis, Type Ii,Endometrial Cancer,Bile Duct Disease,Spinal Chordoma,Hepatopulmonary Syndrome,Squamous Cell Carcinoma,Pfeiffer Syndrome,Glucose Metabolism Disease,Childhood T-Cell Acute Lymphoblastic Leukemia,Hyperglycemia,Retinitis Pigmentosa,Thyroid Gland Cancer,Hair Disease,Macroglobulinemia,Lung Cancer Susceptibility 3,Kagami-Ogata Syndrome,Adenoid Cystic Carcinoma,Non-Alcoholic Fatty Liver Disease,Chordoma,Cowden Syndrome,Polycystic Kidney Disease,Microvascular Complications Of Diabetes 5,Suppression Of Tumorigenicity 12,Melanoma,Connective Tissue Disease,Ocular Hypertension,Leukemia, Chronic Myeloid,Overnutrition,Inherited Metabolic Disorder,Thyroid Gland Anaplastic Carcinoma,Diabetes Mellitus,Adenoma,Spherocytosis, Type 5,Cowden Syndrome 1,Breast Juvenile Papillomatosis,Lipid Storage Disease,Peripheral Nervous System Neoplasm,Uterine Corpus Cancer,Connective Tissue Cancer,Bone Sarcoma,Hypertrophic Cardiomyopathy,Placental Choriocarcinoma,Leukocyte Disease,Clear Cell Renal Cell Carcinoma,Hyperostosis,Alzheimer Disease,Hepatoblastoma,Rasopathy,Nasopharyngeal Disease,Myocardial Infarction,Major Depressive Disorder,Bile Duct Cancer,Intestinal Benign Neoplasm,Stroke, Ischemic,Teeth Hard Tissue Disease,Amyotrophic Lateral Sclerosis 1,Malignant Ovarian Surface Epithelial-Stromal Neoplasm,Ovary Epithelial Cancer,T-Cell Lymphoblastic Leukemia/Lymphoma,Ocular Cancer,Amelogenesis Imperfecta,Retinal Cancer,Blood Platelet Disease,Biliary Tract Disease,Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi,Infratentorial Cancer,Leptin Deficiency Or Dysfunction,Lymphatic System Disease,Neurofibromatosis, Type I,Insulin-Like Growth Factor I,Neuroblastoma,Colonic Benign Neoplasm,Subependymal Glioma,Blood Coagulation Disease,Benign Ependymoma,Pilocytic Astrocytoma,Diffuse Astrocytoma,Childhood Leukemia,Bile Duct Adenocarcinoma,Hemangioma Of Lung,Nevus, Epidermal,Distal Muscular Dystrophy With Anterior Tibial Onset,Retinal Vascular Disease,Psychotic Disorder,Leukemia, Acute Myeloid,Noonan Syndrome 1,Bone Marrow Cancer,Leber Plus Disease,Hemangioma,Leukemia, Acute Lymphoblastic,Cataract,Combined Immunodeficiency,Liver Cirrhosis,Pancreas Disease,Papilloma,Cardiovascular System Disease,Autonomic Nervous System Neoplasm,Kidney Cancer,Pleural Cancer,Basal Cell Nevus Syndrome,Cowden Syndrome 6,Bladder Cancer,Focal Segmental Glomerulosclerosis,Epithelial-Myoepithelial Carcinoma,Thymus Gland Disease,Brain Cancer,Colonic Disease,Lung Adenoma,Lung Oat Cell Carcinoma,Endometrial Adenocarcinoma,Oropharynx Cancer,Cervix Carcinoma,Ulcerative Colitis,Nervous System Disease,Osteoporosis,Anal Squamous Cell Carcinoma,Ovarian Cancer,Adenocarcinoma,Tuberous Sclerosis 2,In Situ Carcinoma,Tuberous Sclerosis,T-Cell Acute Lymphoblastic Leukemia,Eye Disease,Acute Megakaryocytic Leukemia,Breast Carcinoma In Situ,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Malignant Astrocytoma,Gliosarcoma,Parkinson Disease, Late-Onset,Colorectal Cancer,Peripheral Nervous System Disease,Nervous System Cancer,Ovarian Serous Cystadenocarcinoma,Cystadenocarcinoma,Serous Cystadenocarcinoma,Gallbladder Cancer,Hepatocellular Carcinoma,Premature Menopause,Combined Hepatocellular Carcinoma And Cholangiocarcinoma,Skin Papilloma,Partial Third-Nerve Palsy,Neurilemmoma,Rhabdomyosarcoma,Ischemia,Tongue Disease,Chronic Granulomatous Disease,Thymoma,Thymus Cancer,Ovarian Disease,Noonan Syndrome With Multiple Lentigines,Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease,Teratoma,Bipolar Disorder,Macular Degeneration, Age-Related, 1,Immunodeficiency 14,Sarcoma,Bone Osteosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Cone-Rod Dystrophy 2,Prostate Cancer,Disease Of Mental Health,Pancreatic Ductal Adenocarcinoma,Cholangiocarcinoma,Proteus Syndrome,Cervical Cancer,Toxic Encephalopathy,Ovarian Cystadenocarcinoma,Body Mass Index Quantitative Trait Locus 11,Penile Disease,Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a,Central Nervous System Cancer,Pulmonary Fibrosis, Idiopathic,Congenital Myasthenic Syndrome,Retinitis Pigmentosa 47,Respiratory System Disease,Integumentary System Disease,Skin Disease,Cervical Adenocarcinoma,Ovary Adenocarcinoma,Gastric Adenocarcinoma,Type 2 Diabetes Mellitus,Plasmacytoma,Cervical Squamous Cell Carcinoma,Lynch Syndrome,Hidradenoma,Lung Squamous Cell Carcinoma,Fragile X Syndrome,Thyroid Gland Follicular Carcinoma,Schizophrenia,Sensory System Disease,Bladder Urothelial Carcinoma,Lymphoma, Non-Hodgkin, Familial,Skeletal Muscle Cancer,Muscle Cancer,Small Cell Cancer Of The Lung,Immunodeficiency 36,Hypotrichosis 1,Exanthem,Esophageal Cancer,Severe Congenital Neutropenia,Respiratory System Benign Neoplasm,Reproductive Organ Benign Neoplasm,Gastrointestinal System Benign Neoplasm,Immune Deficiency Disease,Myelodysplastic Syndrome,Meningioma, Radiation-Induced,Wiskott-Aldrich Syndrome,X-Linked Monogenic Disease,Autosomal Genetic Disease,Diffuse Large B-Cell Lymphoma,Ewing Sarcoma,Mantle Cell Lymphoma,Peripheral T-Cell Lymphoma,Tuberous Sclerosis 1,Hashimoto Thyroiditis,Gastrointestinal Stromal Tumor,Diabetic Encephalopathy,Tongue Squamous Cell Carcinoma,Oral Squamous Cell Carcinoma,Huntington Disease,Renal Cell Carcinoma, Nonpapillary,Nasopharyngeal Carcinoma,Hypertension, Essential,Meningioma, Familial,Pre-Malignant Neoplasm,Lymphatic System Cancer,Ductal Carcinoma In Situ,Estrogen-Receptor Positive Breast Cancer,Cell Type Benign Neoplasm,Cardiovascular Organ Benign Neoplasm,Uterine Benign Neoplasm,Acquired Metabolic Disease,Kaposi Sarcoma,Colitis,Klippel-Trenaunay-Weber Syndrome,Gallbladder Disease,Leukemia, Chronic Lymphocytic,Amelogenesis Imperfecta, Type Ig,Systemic Lupus Erythematosus,Pelizaeus-Merzbacher Disease,Rett Syndrome,Myeloma, Multiple,Medulloblastoma,Spinal Disease,Autism,Melanoma, Cutaneous Malignant 1,Melanoma, Uveal,Lymphoproliferative Syndrome,Lung Cancer,Palmoplantar Keratoderma, Bothnian Type,Oculoectodermal Syndrome,Osteogenic Sarcoma,Pancreatic Cancer

Cask-Related Disorders,Cerebellar Hypoplasia,Constipation,Congenital Nystagmus,Pathologic Nystagmus,Neurofibromatosis, Type I,Fraser Syndrome 1,Cask Disorders,Cerebellar Disease,Dystonia,Glucosephosphate Dehydrogenase Deficiency,Lobular Neoplasia,X-Linked Intellectual Disability, Najm Type,Cask-Related Intellectual Disability,Microcephaly,Hypertonia,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Fg Syndrome 4,Helsmoortel-Van Der Aa Syndrome,Aland Island Eye Disease,Developmental And Epileptic Encephalopathy 8,Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia,Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency,Coffin-Siris Syndrome 1,Early Infantile Epileptic Encephalopathy,Opitz-Kaveggia Syndrome,Pontocerebellar Hypoplasia,Autism,Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay,Peho Syndrome

Thymic Neuroendocrine Tumor,Prolapse Of Urethra,Gastroesophageal Junction Adenocarcinoma,Neurofibromatosis,Breast Cancer,Colorectal Cancer,Gastric Cancer,Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay,Helicobacter Pylori Infection

Glycogen Storage Disease Ixa,Glycogen Storage Disease Ixc,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency,Glycogen Storage Disease Ia,Glycogen Storage Disease, Type Ixd,Glycogen Storage Disease Ix,Glycogen Storage Disease Ixb

Adult-Onset Still'S Disease

Squamous Cell Carcinoma,Childhood Acute Lymphocytic Leukemia,Lung Cancer Susceptibility 3,Adenoid Cystic Carcinoma,Cholecystitis,Alzheimer Disease,B-Cell Lymphoma,Mixed Oligodendroglioma-Astrocytoma,Transitional Cell Carcinoma,Bladder Cancer,Tuberous Sclerosis 2,Parkinson Disease, Late-Onset,Colorectal Cancer,Pediatric Lymphoma,Oligodendroglioma,Central Neurocytoma,Ischemia,Gastric Cancer,Pancreatic Ductal Adenocarcinoma,Cholangiocarcinoma,Cervical Cancer,Cervical Squamous Cell Carcinoma,Myelodysplastic Syndrome,Nasopharyngeal Carcinoma,Lung Cancer

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Ventricular Septal Defect,Learning Disability,Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers,Cohen Syndrome,Specific Learning Disability,Gastroesophageal Reflux,Breast Cancer,Cardiomyopathy, Familial Hypertrophic, 4,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Chromosome 16p13.3 Deletion Syndrome, Proximal,Orthostatic Intolerance,Dyskeratosis Congenita, Autosomal Dominant 3,X-Linked Monogenic Disease,Non-Syndromic X-Linked Intellectual Disability,Coffin-Lowry Syndrome,Hypertelorism,Partington X-Linked Mental Retardation Syndrome,Scoliosis

Liver Disease,Non-Alcoholic Fatty Liver Disease,Pyriform Sinus Cancer,Fatty Liver Disease,Alzheimer Disease,Glottis Squamous Cell Carcinoma,Partial Third-Nerve Palsy,Neural Tube Defects,Huntington Disease

Non-Syndromic X-Linked Intellectual Disability 30,Microcephaly,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Non-Syndromic X-Linked Intellectual Disability,Arts Syndrome,Syndromic X-Linked Intellectual Disability

Tuberous Sclerosis 2,Tuberous Sclerosis,Cardiomyopathy, Familial Hypertrophic, 4,Disease Of Mental Health,Adrenal Cortical Adenocarcinoma,Dyskeratosis Congenita, Autosomal Dominant 3,Tuberous Sclerosis 1,Coffin-Lowry Syndrome,Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Indolent Plasma Cell Myeloma,Paronychia,Skin Lipoma,Rheumatoid Arthritis,Lung Cancer

Coronary Artery Vasospasm,Ocular Hyperemia,Breast Cancer,Pediatric Osteosarcoma,Hutchinson-Gilford Progeria Syndrome,Tetralogy Of Fallot,Hypertension, Essential,Lung Cancer

Muscular Disease,Heart Disease,Constrictive Pericarditis,Congenital Fiber-Type Disproportion,Mitral Valve Insufficiency,Aortic Valve Disease 2,Congenital Structural Myopathy,Myopathy,Amyloidosis,Cardiomyopathy, Dilated, 1e,Syncope,Myofibrillar Myopathy,Atrial Heart Septal Defect,Mitochondrial Dna Depletion Syndrome 12b,Childhood-Onset Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome,Emery-Dreifuss Muscular Dystrophy,Cortical Thymoma,Muscle Tissue Disease,Morvan'S Fibrillary Chorea,Neuromuscular Disease,Hypertrophic Cardiomyopathy,Familial Isolated Dilated Cardiomyopathy,Rasopathy,Autosomal Dominant Distal Myopathy,Lung Large Cell Carcinoma,Myopathy, Distal, 1,Myositis,Myotonic Dystrophy 1,Systolic Heart Failure,Myopathy, Myofibrillar, 1,Diastolic Heart Failure,Autosomal Recessive Limb-Girdle Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a,Muscular Dystrophy,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g,Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j,Muscular Atrophy,Tibial Muscular Dystrophy,Limb-Girdle Muscular Dystrophy,Arrhythmogenic Right Ventricular Dysplasia, Familial, 1,Epithelial Malignant Thymoma,Hyaline Body Myopathy,Isolated Elevated Serum Creatine Phosphokinase Levels,Noonan Syndrome 1,Newborn Respiratory Distress Syndrome,Thymus Clear Cell Carcinoma,Reducing Body Myopathy,Myocarditis,Atrial Standstill 1,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10,Hereditary Proximal Myopathy With Early Respiratory Failure,Dilated Cardiomyopathy,Alcoholic Cardiomyopathy,Lmna-Related Dilated Cardiomyopathy,Thymus Gland Disease,Long Qt Syndrome,Cardiomyopathy, Dilated, 1dd,Heart Conduction Disease,Udd Distal Myopathy - Tibial Muscular Dystrophy,Muscular Dystrophy, Congenital, Lmna-Related,Neuropathy,Perinephritis,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form,Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form,Myopathy, Myofibrillar, 3,Sick Sinus Syndrome,Multiminicore Disease,Cardiomyopathy, Familial Hypertrophic, 4,Cardiomyopathy, Dilated, 1a,Congestive Heart Failure,Myopathy, Myofibrillar, 4,Left Ventricular Noncompaction 2,Foot Drop,Myopathy, Myofibrillar, 5,Rhabdomyosarcoma,Rigid Spine Muscular Dystrophy 1,Epidermolysis Bullosa Simplex With Muscular Dystrophy,Thymoma,Thymus Cancer,Dendritic Cell Thymoma,Respiratory Failure,Centronuclear Myopathy,Myopathy, Myofibrillar, 9, With Early Respiratory Failure,Cardiomyopathy, Dilated, 1g,Congenital Myasthenic Syndrome,Cardiomyopathy, Familial Hypertrophic, 9,Cardiomyopathy, Dilated, 1h,Orthostatic Intolerance,Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant,Lung Squamous Cell Carcinoma,Restrictive Cardiomyopathy,Extrinsic Cardiomyopathy,Lambert-Eaton Myasthenic Syndrome,Arrhythmogenic Right Ventricular Cardiomyopathy,Brugada Syndrome,Muscle Hypertrophy,Salih Myopathy,Nonaka Myopathy,Primary Cutaneous Amyloidosis,Distal Arthrogryposis,Familial Atrial Fibrillation,Hypermethioninemia Due To Adenosine Kinase Deficiency,Atrioventricular Block,Third-Degree Atrioventricular Block,Barth Syndrome,Cardioneuromyopathy With Hyaline Masses And Nemaline Rods,Cardiomyopathy, Familial Hypertrophic, 1,Wolff-Parkinson-White Syndrome,Muscular Dystrophy-Dystroglycanopathy , Type C, 5,Intrinsic Cardiomyopathy,Peripartum Cardiomyopathy,Lipoprotein Quantitative Trait Locus,Atrial Fibrillation,Scoliosis,Muscular Dystrophy, Duchenne Type,Myopathy, Centronuclear, X-Linked,Cardiac Arrest,Inguinal Hernia,Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2,Myasthenia Gravis,Left Ventricular Noncompaction,Lethal Congenital Contracture Syndrome,Myopathy, Centronuclear, 2,Batten-Turner Congenital Myopathy,Miyoshi Muscular Dystrophy,Tibial Muscular Dystrophy, Tardive,Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Restrictive, 2,Deafness, Autosomal Recessive 17,Deafness, Autosomal Recessive 14,Cardiomyopathy, Familial Restrictive, 3

Human Cytomegalovirus Infection,Anthrax Disease,Cardiomyopathy, Familial Hypertrophic, 25

Cdkl5 Deficiency Disorder,Ohtahara Syndrome,Seizure Disorder,Childhood Absence Epilepsy,Epilepsy,Gait Apraxia,Gene Duplication Disease,Nicolaides-Baraitser Syndrome,Amyotrophic Lateral Sclerosis 1,Angelman Syndrome,Focal Epilepsy,Developmental And Epileptic Encephalopathy 14,Epilepsy With Generalized Tonic-Clonic Seizures,Congenital Nervous System Abnormality,Developmental And Epileptic Encephalopathy,Fundus Dystrophy,Juvenile Retinoschisis,Bruxism,X-Linked Congenital Retinoschisis,Early Myoclonic Encephalopathy,Stxbp1 Encephalopathy,Microcephaly,Mental Retardation, Autosomal Dominant 20,Encephalopathy,Benign Neonatal Seizures,Alacrima, Achalasia, And Mental Retardation Syndrome,Benign Epilepsy With Centrotemporal Spikes,Developmental And Epileptic Encephalopathy 9,Methylmalonic Acidemia,Benign Familial Neonatal Epilepsy,West Syndrome,Disease Of Mental Health,Lubs X-Linked Mental Retardation Syndrome,Fragile X Syndrome,Pitt-Hopkins Syndrome,Mowat-Wilson Syndrome,Developmental And Epileptic Encephalopathy 2,Lennox-Gastaut Syndrome,Sturge-Weber Syndrome,Neonatal Period Electroclinical Syndrome,Infancy Electroclinical Syndrome,Childhood Electroclinical Syndrome,Early Infantile Epileptic Encephalopathy,Developmental And Epileptic Encephalopathy 4,Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency,Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1,Aicardi Syndrome,Specific Developmental Disorder,Pervasive Developmental Disorder,Dravet Syndrome,Developmental And Epileptic Encephalopathy 1,Benign Familial Infantile Epilepsy,Generalized Epilepsy With Febrile Seizures Plus,Pyruvate Dehydrogenase E1-Alpha Deficiency,Retinoschisis 1, X-Linked, Juvenile,Rett Syndrome,Epilepsy, Myoclonic Juvenile,Autism,Christianson Syndrome,Epilepsy, Idiopathic Generalized,Peho Syndrome