Tongue Carcinoma,Neuroblastoma,Leukemia, Acute Myeloid,Sporadic Breast Cancer,Cerebellar Disease,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Microcephaly,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Retinoblastoma,Esophageal Cancer,Seckel Syndrome,Mantle Cell Lymphoma,Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked,Ovarian Clear Cell Carcinoma,Autosomal Recessive Cerebellar Ataxia,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer

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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

Alzheimer Disease,Peutz-Jeghers Syndrome,Autism

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

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

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

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

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

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

Congenital Nervous System Abnormality,Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome,Colorectal Cancer,Microcephaly,Seckel Syndrome,Microcephaly And Chorioretinopathy, Autosomal Recessive, 2,Isolated Growth Hormone Deficiency,Primary Autosomal Recessive Microcephaly,Joubert Syndrome 1,Isolated Growth Hormone Deficiency, Type Ia

Colorectal Cancer

Colon Squamous Cell Carcinoma

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

Retinitis Pigmentosa,Non-Alcoholic Fatty Liver Disease,Prion Disease,Alzheimer Disease,Ovarian Cancer,Wolfram Syndrome,Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus,Huntington Disease

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

Bartter Disease,Renal Tubular Transport Disease,Pseudohypoaldosteronism,Agenesis Of The Corpus Callosum With Peripheral Neuropathy,Arthrogryposis, Distal, Type 3,Liddle Syndrome 1,Hypomagnesemia 4, Renal,Distal Arthrogryposis,Hypertension, Essential,Syndromic X-Linked Intellectual Disability Siderius Type,Gitelman Syndrome

Connective Tissue Disease,Neonatal Leukemia,Distal Muscular Dystrophy With Anterior Tibial Onset,Spermatogenic Failure 50,Breast Adenocarcinoma,Theileriasis,Spermatogenic Failure 9

Autosomal Thrombocytopenia With Normal Platelets,Sick Building Syndrome,Thrombocytopenia,Thrombocytopenia 2,Gray Platelet Syndrome,Ceroid Lipofuscinosis, Neuronal, 2