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

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

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

Endometrial Cancer,Melanoma,Plasma Cell Neoplasm,Uterine Corpus Cancer,Atypical Teratoid Rhabdoid Tumor,Neuroblastoma,Childhood Malignant Schwannoma,Adult Malignant Schwannoma,Bladder Cancer,Laryngeal Squamous Cell Carcinoma,Tetraploidy,Ovarian Cancer,Prostate Neuroendocrine Neoplasm,Breast Cancer,Colorectal Cancer,Endometrial Serous Adenocarcinoma,Hepatocellular Carcinoma,Rhabdomyosarcoma,Gastric Cancer,Prostate Cancer,Cervical Cancer,Lynch Syndrome,Esophageal Cancer,Donohue Syndrome,Colorectal Adenocarcinoma,Myeloma, Multiple,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer,Pancreatic Cancer

Zellweger Syndrome,Colorectal Cancer,Attention Deficit-Hyperactivity Disorder,Chemical Colitis,Band Heterotopia

Endometrial Cancer,Noonan Syndrome 1,Esophageal Adenosquamous Carcinoma,Prostate Cancer,Tuberous Sclerosis 1,Lung Cancer

Recessive Dystrophic Epidermolysis Bullosa

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

Septic Myocarditis,Coffin-Lowry Syndrome

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

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

Colon Squamous Cell Carcinoma

Testicular Germ Cell Tumor

Arteriovenous Malformations Of The Brain,Autosomal Recessive Distal Hereditary Motor Neuronopathy,Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1,Theileriasis

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Squamous Cell Carcinoma,Cerebral Hemisphere Lipoma,Corpus Callosum Lipoma,Adenoid Cystic Carcinoma,Cowden Syndrome,Cervical Adenoma Malignum,Leiomyosarcoma,Bilateral Breast Cancer,B-Lymphoblastic Leukemia/Lymphoma,Diffuse Midline Glioma, H3 K27m-Mutant,Essential Thrombocythemia,Congenital Heart Defects, Multiple Types, 3,Familial Colorectal Cancer,Leukemia,Inherited Cancer-Predisposing Syndrome,Wilms Tumor 5,Leukemia, Acute Myeloid,Sporadic Breast Cancer,Li-Fraumeni Syndrome 1,Telangiectasis,Basal Cell Carcinoma,Lung Leiomyosarcoma,Prostate Leiomyosarcoma,Cerebellar Disease,Bile Duct Cystadenoma,T-Cell Prolymphocytic Leukemia,Nk-Cell Enteropathy,Ovarian Cancer,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Colorectal Cancer,Li-Fraumeni Syndrome 2,Premature Menopause,Rhabdomyosarcoma,Xeroderma Pigmentosum, Variant Type,Sarcoma,Fanconi Anemia, Complementation Group A,Bone Osteosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Thrombocytopenia,Lynch Syndrome,Esophageal Cancer,Seckel Syndrome,Myelodysplastic Syndrome,Gastric Cancer, Hereditary Diffuse,Tumor Predisposition Syndrome,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Wilms Tumor 1,Autosomal Recessive Cerebellar Ataxia,Lymphoma,Nijmegen Breakage Syndrome,Colitis,Li-Fraumeni Syndrome,Premature Ovarian Failure 1,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Osteogenic Sarcoma

Heart Disease,Childhood Acute Lymphocytic Leukemia,Childhood T-Cell Acute Lymphoblastic Leukemia,Myeloid And Lymphoid Neoplasms Associated With Pdgfra Rearrangement,Chronic Neutrophilic Leukemia,Melanoma,Chronic Eosinophilic Leukemia,Leukemia, Chronic Myeloid,B-Lymphoblastic Leukemia/Lymphoma,B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1,B-Lymphoblastic Leukemia/Lymphoma With Hypodiploidy,B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like,B-Lymphoblastic Leukemia/Lymphoma With Iamp21,Lung Large Cell Carcinoma,Blood Platelet Disease,Essential Thrombocythemia,Myeloproliferative Neoplasm,Testicular Leukemia,Philadelphia-Negative Chronic Myeloid Leukemia,Leukemia,Mixed Phenotype Acute Leukemia,Myelophthisic Anemia,Blood Coagulation Disease,Hypereosinophilic Syndrome,Childhood Leukemia,Leukemia, Acute Myeloid,Bone Marrow Cancer,Myelodysplastic/Myeloproliferative Neoplasm,Hematologic Cancer,Leukemia, Acute Lymphoblastic,Moyamoya Angiopathy,Polycythemia,Leiomyomatosis,Central Nervous System Leukemia,Precursor T-Cell Acute Lymphoblastic Leukemia,Acquired Polycythemia,T-Cell Prolymphocytic Leukemia,Chronic Leukemia,Cockayne Syndrome,Prolymphocytic Leukemia,Lip And Oral Cavity Cancer,Ovarian Cancer,Myeloid Leukemia,T-Cell Acute Lymphoblastic Leukemia,Adult Acute Lymphocytic Leukemia,Breast Cancer,Colorectal Cancer,Congenital Heart Defects And Skeletal Malformations Syndrome,Deficiency Anemia,Leukemia, Acute Lymphoblastic 3,Retinoblastoma,Mental Retardation, Autosomal Dominant 29,Myelodysplastic Syndrome,Mental Retardation, Autosomal Dominant 33,Gastrointestinal Stromal Tumor,Lymphoblastic Leukemia, Acute, With Lymphomatous Features,Wilms Tumor 1,Leukemia, Chronic Lymphocytic,Dermatofibrosarcoma Protuberans,Ataxia-Telangiectasia,B-Cell Adult Acute Lymphocytic Leukemia,Atypical Chronic Myeloid Leukemia,Polycythemia Vera

Melanoma,Leukemia, Chronic Myeloid,Latent Syphilis,Sjogren-Larsson Syndrome,Leukemia,Myeloid Leukemia,Sarcoma,Ewing Sarcoma Of Bone,Neurofibrosarcoma,Acute Promyelocytic Leukemia,Miller-Dieker Lissencephaly Syndrome,Myopathy, Centronuclear, 2

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

Mixed Fibrolamellar Hepatocellular Carcinoma,Fibrolamellar Carcinoma,Cardioacrofacial Dysplasia 1,Dilated Cardiomyopathy,Acth-Independent Cushing Syndrome,Osteoporosis,Breast Cancer,Pigmented Nodular Adrenocortical Disease, Primary, 4,Primary Pigmented Nodular Adrenocortical Disease

Mitral Valve Disease,Retinitis Pigmentosa,Cowden Syndrome,Pyriform Sinus Cancer,Cowden Syndrome 1,Placental Choriocarcinoma,Uterus Perivascular Epithelioid Cell Tumor,Subependymal Glioma,Benign Ependymoma,Leukemia, Acute Myeloid,Nephronophthisis,Kidney Angiomyolipoma,Aortic Disease,Skin Amelanotic Melanoma,Ovarian Cancer,Tuberous Sclerosis 2,Tuberous Sclerosis,Breast Cancer,Glioblastoma,Colorectal Cancer,Hepatocellular Carcinoma,Rhabdomyosarcoma,Acute Laryngopharyngitis,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Diamond-Blackfan Anemia 20,Esophageal Cancer,Muscle Hypertrophy,Mantle Cell Lymphoma,Tuberous Sclerosis 1,Lymphangioleiomyomatosis,Leukodystrophy, Hypomyelinating, 12,Lung Cancer,Palmoplantar Keratoderma, Bothnian Type,Pancreatic Cancer

Myofibrillar Myopathy,Amphetamine Abuse,Stroke, Ischemic,Glioblastoma

Focal Epithelial Hyperplasia,Osteoporosis,Peutz-Jeghers Syndrome,Gaucher Disease, Type Iii,Visual Impairment And Progressive Phthisis Bulbi

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

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

Liver Disease,Endometrial Cancer,Epilepsy,Polycystic Kidney Disease,Diabetes Mellitus,Alzheimer Disease,Major Depressive Disorder,Neuroblastoma,Cervical Non-Keratinizing Squamous Cell Carcinoma,Barbiturate Dependence,Alzheimer Disease 9,Dementia,Fallopian Tube Serous Adenocarcinoma,Breast Cancer,Parkinson Disease, Late-Onset,Colorectal Cancer,Parkinson Disease 1, Autosomal Dominant,Hepatocellular Carcinoma,Bipolar Disorder,Gastric Cancer,Prostate Cancer,Disease Of Mental Health,Type 2 Diabetes Mellitus,Schizophrenia,Ophthalmomyiasis,Familial Adenomatous Polyposis,Severe Congenital Neutropenia,Aneurysmal Bone Cysts,Attention Deficit-Hyperactivity Disorder,Medulloblastoma,Frontotemporal Dementia,Pancreatic Cancer

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

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

Retinitis Pigmentosa,Plexiform Neurofibroma,Malignant Peripheral Nerve Sheath Tumor,Fanconi Anemia, Complementation Group A,Retinitis Pigmentosa 67

Breast Papillomatosis,Squamous Cell Carcinoma,Cornelia De Lange Syndrome,Leukemia, Chronic Myeloid,Gonococcal Keratitis,Leukemia, Acute Myeloid,Trichothiodystrophy 1, Photosensitive,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Microcephaly,Rhabdomyosarcoma,Gastric Cancer,Prostate Cancer,Lung Squamous Cell Carcinoma,Lymphoma, Non-Hodgkin, Familial,Dyskeratosis Congenita, Autosomal Dominant 3,Esophageal Cancer,Brain Glioma,Ataxia-Telangiectasia,Medulloblastoma,Primary Autosomal Recessive Microcephaly,Lung Cancer,Pancreatic Cancer

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

Hyperglycemia,Hypertrophic Cardiomyopathy,Glycogen Storage Disease,Phosphorylase Kinase Deficiency,Tuberous Sclerosis,Breast Cancer,Ischemia,Aromatase Deficiency,Peutz-Jeghers Syndrome,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Wolff-Parkinson-White Syndrome

Cerebellar Hypoplasia,Supranuclear Palsy, Progressive, 1,Polycystic Kidney Disease,Dyslexia,Alzheimer Disease,Amyotrophic Lateral Sclerosis 1,Transient Cerebral Ischemia,Giant Axonal Neuropathy 2,Motor Neuron Disease,Neuroblastoma,Hereditary Spastic Paraplegia,Nephronophthisis,Alzheimer Disease 9,Scrapie,Parkinson Disease, Late-Onset,Lissencephaly With Cerebellar Hypoplasia,Pick Disease Of Brain,Ischemia,Developmental And Epileptic Encephalopathy 5,Disease Of Mental Health,Toxic Encephalopathy,Dementia, Lewy Body,Lissencephaly,Aneurysmal Bone Cysts,Lissencephaly 7 With Cerebellar Hypoplasia,Syndromic Intellectual Disability,Non-Syndromic Intellectual Disability,Multiple System Atrophy 1,Myasthenic Syndrome, Congenital, 19,Primary Autosomal Recessive Microcephaly,C Syndrome,Lung Cancer

Melorheostosis, Isolated,Skin Melanoma,Achondroplasia,Heart Disease,Ichthyosis,Squamous Cell Carcinoma,Cerebral Hemisphere Lipoma,Corpus Callosum Lipoma,Lung Cancer Susceptibility 3,Melorheostosis,Pulmonary Valve Stenosis,Suppression Of Tumorigenicity 12,Melanoma,Acneiform Dermatitis,Neurofibromatosis-Noonan Syndrome,Hypertrophic Cardiomyopathy,Osteopoikilosis,Alzheimer Disease,Rasopathy,Noonan Syndrome-Like Disorder With Loose Anagen Hair,Keratosis Pilaris Atrophicans Faciei,Costello Syndrome,Anthrax Disease,Extracranial Arteriovenous Malformation,Neurofibromatosis, Type I,Neuroblastoma,Skin Granular Cell Tumor,Pseudo-Turner Syndrome,Leukemia, Acute Myeloid,Noonan Syndrome 1,Senile Angioma,Hemangioma,Rosai-Dorfman Disease,Bladder Cancer,Mixed Cell Adenoma,Hairy Cell Leukemia,Prostate Squamous Cell Carcinoma,Noonan Syndrome-Like Disorder With Loose Anagen Hair 2,Cardiofaciocutaneous Syndrome 3,Ovarian Cancer,Myeloid Leukemia,Adenocarcinoma,Breast Cancer,Squamous Cell Carcinoma, Head And Neck,Colorectal Cancer,Pulmonary Valve Disease,Hepatocellular Carcinoma,Cardiofaciocutaneous Syndrome 1,Splenic Diffuse Red Pulp Small B-Cell Lymphoma,Pheochromocytoma,Rhabdomyosarcoma,Noonan Syndrome With Multiple Lentigines,Fibrosarcoma,Histiocytosis,Skin Carcinoma,Gastric Cancer,Arteriovenous Malformation,Prostate Cancer,Disease Of Mental Health,Gastric Adenocarcinoma,Langerhans Cell Histiocytosis,Bladder Urothelial Carcinoma,Lymphoma, Non-Hodgkin, Familial,Diamond-Blackfan Anemia 20,Acute Promyelocytic Leukemia,Ovarian Melanoma,Autism Spectrum Disorder,Kaposi Sarcoma,Cardiomyopathy, Familial Hypertrophic, 25,Medulloblastoma,Autism,Melanoma, Cutaneous Malignant 1,Melanoma, Uveal,Lung Cancer,Pancreatic Cancer

Inflammatory Bowel Disease 1,T-Cell Lymphoblastic Leukemia/Lymphoma,Crohn'S Disease,Breast Cancer,Gastrointestinal Stromal Tumor

Pneumocystosis,X-Linked Recessive Disease,Lymphopenia,Conjunctivitis,Richter'S Syndrome,Macroglobulinemia,Pyoderma,Cll/Sll,Mast-Cell Leukemia,Polyarticular Juvenile Idiopathic Arthritis,Spherocytosis, Type 5,Ecthyma,B Cell Deficiency,Lung Large Cell Carcinoma,B-Cell Lymphoma,Common Variable Immunodeficiency,Neutropenia,Agammaglobulinemia 1, Autosomal Recessive,Plasma Protein Metabolism Disease,Isolated Agammaglobulinemia,Poliomyelitis,Leukemia, Acute Myeloid,Growth Hormone Deficiency,Leukemia, Acute Lymphoblastic,Agammaglobulinemia,Bacterial Infectious Disease,Breast Cancer,Central Nervous System Hematologic Cancer,Congenital Hypogammaglobulinemia,Immunodeficiency 14,Panniculitis,Immunodeficiency 33,Lymphoma, Non-Hodgkin, Familial,Baylisascariasis,Agammaglobulinemia, X-Linked,Paralytic Poliomyelitis,Immune Deficiency Disease,Myelodysplastic Syndrome,Immunoglobulin A Deficiency 1,Wiskott-Aldrich Syndrome,X-Linked Monogenic Disease,Diffuse Large B-Cell Lymphoma,Mantle Cell Lymphoma,Lymphoplasmacytic Lymphoma,Marginal Zone B-Cell Lymphoma,Splenic Marginal Zone Lymphoma,Williams-Beuren Syndrome,Combined Oxidative Phosphorylation Deficiency 9,Mohr-Tranebjaerg Syndrome,Cd40 Ligand Deficiency,Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia,Immunodeficiency 45,Immunodeficiency With Hyper-Igm, Type 1,Leukemia, Chronic Lymphocytic,Myeloma, Multiple,Isolated Growth Hormone Deficiency,Isolated Growth Hormone Deficiency Type Iii,Waldenstroem'S Macroglobulinemia

Muscular Disease,Fuchs' Endothelial Dystrophy,Myopathy,Muscle Tissue Disease,Neuromuscular Disease,Hypertrophic Cardiomyopathy,Myotonic Disease,Myotonic Dystrophy 1,Muscular Dystrophy,Myotonic Dystrophy,Spinocerebellar Ataxia 8,Myotonic Cataract,Cataract,Oculopharyngeal Muscular Dystrophy,Hair Follicle Neoplasm,Myotonic Dystrophy 2,Myotonia,Immature Cataract,Lens Disease,Autosomal Dominant Cerebellar Ataxia,Disease Of Mental Health,Fragile X Syndrome,Huntington Disease-Like 2,First-Degree Atrioventricular Block,Fragile X-Associated Tremor/Ataxia Syndrome,X-Linked Hereditary Ataxia,Spinal And Bulbar Muscular Atrophy, X-Linked 1,Catecholaminergic Polymorphic Ventricular Tachycardia,Frontotemporal Dementia,3-Methylglutaconic Aciduria, Type Iii

T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations,Myeloproliferative Syndrome, Transient,Lymphoproliferative Syndrome 2,Epidermodysplasia Verruciformis 1,Immunodeficiency 13,Prostate Cancer,Coronin-1a Deficiency,Wilson-Turner X-Linked Mental Retardation Syndrome,Lung Cancer

Mixed Fibrolamellar Hepatocellular Carcinoma,Fatty Liver Disease,Breast Cancer,Body Mass Index Quantitative Trait Locus 11,Type 2 Diabetes Mellitus,Wolff-Parkinson-White Syndrome,Lung Cancer

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

Non-Syndromic X-Linked Intellectual Disability

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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

Charge Syndrome,Aggressive Systemic Mastocytosis,Breast Cancer,Inclusion Conjunctivitis,Ovary Serous Adenocarcinoma,Thoracic Outlet Syndrome

Myopathy,Impotence,Connective Tissue Disease,Diabetes Mellitus,Aortic Dissection,Alzheimer Disease,Familial Thoracic Aortic Aneurysm And Aortic Dissection,Cystic Fibrosis,Aortic Disease,Aortic Valve Disease 1,Heritable Thoracic Aortic Disease,Hemolytic Anemia,Non-Proliferative Fibrocystic Change Of The Breast,Aneurysm,Aortic Aneurysm, Familial Thoracic 8,Disease Of Mental Health,Pulmonary Hypertension,Body Mass Index Quantitative Trait Locus 11,Aortic Aneurysm,Loeys-Dietz Syndrome,Immune Deficiency Disease,Myelodysplastic Syndrome,Attention Deficit-Hyperactivity Disorder,Aortic Aneurysm, Familial Thoracic 1,Hypertension, Essential,Sexual Disorder

Acrofacial Dysostosis 1, Nager Type

Colorectal 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

Lung Large Cell Carcinoma,Alacrima, Achalasia, And Mental Retardation Syndrome,Disease Of Mental Health,Crouzon Syndrome With Acanthosis Nigricans,Systemic Lupus Erythematosus,Gingival Fibromatosis

Pica Disease,Mental Retardation, Autosomal Dominant 57

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

Adult-Onset Still'S Disease

Orofaciodigital Syndrome Vi

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

Papillary Serous Adenocarcinoma,Orofaciodigital Syndrome Vi

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

Polycystic Kidney Disease,Uterine Adnexa Cancer,Cor Triatriatum,Cor Triatriatum Dexter,Amyotrophic Lateral Sclerosis 1,Short-Rib Thoracic Dysplasia 12,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1,Lateral Sclerosis,Motor Neuron Disease,Nephronophthisis,Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly,Fundus Dystrophy,Kidney Disease,Ellis-Van Creveld Syndrome,Amyotrophic Lateral Sclerosis 24,Polydactyly,Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations,Cranioectodermal Dysplasia,Asphyxiating Thoracic Dystrophy,Weyers Acrofacial Dysostosis,Mohr Syndrome,Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly,Frontotemporal Dementia,Joubert Syndrome 1,Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly

Niemann-Pick Disease, Type C1

T-Cell Lymphoblastic Leukemia/Lymphoma,Nik Deficiency,Trichohepatoenteric Syndrome 1,Pancreatic Adenosquamous Carcinoma,Pancreatic Ductal Adenocarcinoma,Immunodeficiency 50

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

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

Breast Cancer

Breast Angiosarcoma,Skin Angiosarcoma,Liver Angiosarcoma,Skin Sarcoma,Lymphangiosarcoma,Breast Sarcoma,Hydrolethalus Syndrome 1,Neuronopathy, Distal Hereditary Motor, Type Viii

Epilepsy, Familial Temporal Lobe, 2

Skin Melanoma,Retinitis Pigmentosa,Neonatal Diabetes,Prion Disease,Diabetes Mellitus,Alzheimer Disease,Rasopathy,Retinal Degeneration,Subungual Glomus Tumor,Crisponi/Cold-Induced Sweating Syndrome 1,Osteoporosis,Wolfram Syndrome,Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus,Disease Of Mental Health,Leukoencephalopathy With Vanishing White Matter,Odontochondrodysplasia,Trichothiodystrophy 5, Nonphotosensitive,Cardiomyopathy, Familial Hypertrophic, 25,Permanent Neonatal Diabetes Mellitus,Palmoplantar Keratoderma, Bothnian Type

Alzheimer Disease,Peutz-Jeghers Syndrome,Autism

Kagami-Ogata Syndrome,Alzheimer Disease,Alacrima, Achalasia, And Mental Retardation Syndrome,Mental Retardation, Autosomal Dominant 53,Disease Of Mental Health,Mental Retardation, Autosomal Recessive 63,Attention Deficit-Hyperactivity Disorder,Autosomal Dominant Non-Syndromic Intellectual Disability,Rett Syndrome,Autism

Myotonic Dystrophy,Epidermolysis Bullosa Simplex, Dowling-Meara Type

Bartter Disease,Renal Tubular Transport Disease,Pseudohypoaldosteronism,Myeloproliferative Syndrome, Transient,Arthrogryposis, Distal, Type 3,Cerebral Cavernous Malformations,Cerebrocostomandibular Syndrome,Cerebral Cavernous Malformations 3,Distal Arthrogryposis,Inflammatory Bowel Disease 14,Hypertension, Essential,Gitelman Syndrome