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

Skin Melanoma,Squamous Cell Carcinoma,Lung Cancer Susceptibility 3,Cowden Syndrome,Melanoma,Rare Gynecological Tumor,Lung Non-Squamous Non-Small Cell Carcinoma,Cowden Syndrome 1,Cervical Adenoma Malignum,Pulmonary Large Cell Neuroendocrine Carcinoma,B-Lymphoblastic Leukemia/Lymphoma,Large Cell Carcinoma,Pancreatic Intraductal Papillary-Colloid Carcinoma,Inherited Cancer-Predisposing Syndrome,Gynecomastia,Vaginal Tubulovillous Adenoma,Hereditary Mixed Polyposis Syndrome,Hepatocellular Clear Cell Carcinoma,Carney Complex Variant,Intestinal Polyposis Syndrome,Dysplastic Nevus Syndrome,Skin Amelanotic Melanoma,Polyhydramnios,Small Intestine Cancer,Vaginal Adenoma,Testicular Germ Cell Tumor,Long Qt Syndrome,Lip And Oral Cavity Cancer,Ovarian Cancer,Adenocarcinoma,Tuberous Sclerosis 2,Tuberous Sclerosis,Testicular Cancer,Acinar Cell Carcinoma,Breast Cancer,Hereditary Breast Ovarian Cancer Syndrome,Acute Monoblastic Leukemia,Colorectal Cancer,Juvenile Polyposis Syndrome,Peutz-Jeghers Syndrome,Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes,Skin Carcinoma,Cervical Cancer,Lung Benign Neoplasm,Lynch Syndrome,Lung Squamous Cell Carcinoma,Pancreatic Serous Cystadenoma,Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy,Diamond-Blackfan Anemia 20,Gastric Cancer, Hereditary Diffuse,Tumor Predisposition Syndrome,Tuberous Sclerosis 1,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Intussusception,Vaginal Benign Neoplasm,Li-Fraumeni Syndrome,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Pancreatic Cancer

Orofaciodigital Syndrome Vi

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

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

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

Colorectal Cancer

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

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

Bartter Disease,Arthrogryposis, Distal, Type 3,Hypomagnesemia 4, Renal,Distal Arthrogryposis,Hypomagnesemia 3, Renal

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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

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

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

Okur-Chung Neurodevelopmental Syndrome,Connective Tissue Disease,Alzheimer Disease,Prostate Stromal Sarcoma,Distal Muscular Dystrophy With Anterior Tibial Onset,Kidney Leiomyosarcoma,Colorectal Cancer,Microcephaly,Alacrima, Achalasia, And Mental Retardation Syndrome,Prostate Cancer,Disease Of Mental Health,Malaria

Pulmonary Immaturity,Aromatase Excess Syndrome

Papillary Serous Adenocarcinoma,Orofaciodigital Syndrome Vi

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

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

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

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

Leukemia, Chronic Myeloid,Diabetes Mellitus,Alzheimer Disease,Nephronophthisis,Breast Cancer,Colorectal Cancer,Pheochromocytoma,Skin Carcinoma,Cardiomyopathy, Familial Hypertrophic, 25

Cryptococcal Meningitis,Diabetes Mellitus,Alzheimer Disease,Amyotrophic Lateral Sclerosis 1,Cataract,Breast Cancer,Parkinson Disease, Late-Onset,Human Immunodeficiency Virus Type 1,Pheochromocytoma,Pertussis,Opioid Abuse,Type 2 Diabetes Mellitus,Lennox-Gastaut Syndrome,Huntington Disease,Pancreatic Cancer

Psoriasis,Heart Disease,Bladder Lateral Wall Cancer,Leukemia, Chronic Myeloid,Gaucher'S Disease,Alzheimer Disease,Myocardial Infarction,Doxorubicin Induced Cardiomyopathy,Human Cytomegalovirus Infection,Vitreous Abscess,Anthrax Disease,Colon Adenocarcinoma,Autoimmune Disease,Dilated Cardiomyopathy,Ureteral Obstruction,Ovarian Cancer,Tuberous Sclerosis 2,Breast Cancer,Parkinson Disease, Late-Onset,Colorectal Cancer,Hepatocellular Carcinoma,Septic Myocarditis,Pheochromocytoma,Ischemia,Skin Carcinoma,Chlamydia,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Skin Disease,Retinoblastoma,Rheumatoid Arthritis,Inflammatory Bowel Disease,Trichothiodystrophy 5, Nonphotosensitive,Fibrodysplasia Ossificans Progressiva,Acute Promyelocytic Leukemia,Pulmonary Disease, Chronic Obstructive,Lipoprotein Quantitative Trait Locus,Cardiomyopathy, Familial Hypertrophic, 25,Alexander Disease,Lung Cancer,Osteogenic Sarcoma,Asthma

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

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

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

Adult-Onset Still'S Disease

Fungal Meningitis,Neuroaspergillosis,Mental Retardation, Autosomal Dominant 7

Leukemia, Acute Myeloid,Human Immunodeficiency Virus Type 1,Immune Deficiency Disease,Leukemia, Chronic Lymphocytic,Nut Midline Carcinoma

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

Pancreatic Adenocarcinoma,Heart Disease,Learning Disability,Endometrial Cancer,Autosomal Dominant Polycystic Kidney Disease,Differentiating Neuroblastoma,Squamous Cell Carcinoma,Vascular Disease,Lung Cancer Susceptibility 3,Spinal Cord Injury,Polycystic Kidney Disease,Melanoma,Leukemia, Chronic Myeloid,Thyroid Gland Anaplastic Carcinoma,Diabetes Mellitus,Noonan Syndrome 13,Alzheimer Disease,Rasopathy,Retrograde Amnesia,Bile Duct Cancer,Specific Learning Disability,Human Cytomegalovirus Infection,Hepatitis,Mesangial Proliferative Glomerulonephritis,Insulin-Like Growth Factor I,Neuroblastoma,Angioimmunoblastic T-Cell Lymphoma,Glioma,Noonan Syndrome 1,Dilated Cardiomyopathy,Bladder Cancer,Lung Adenoma,Pediculus Humanus Corporis Infestation,Cystic Kidney Disease,Ovarian Cancer,Myeloid Leukemia,Burkitt Lymphoma,Tuberous Sclerosis,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Microphthalmia,Colorectal Cancer,Hepatocellular Carcinoma,Cardiofaciocutaneous Syndrome 1,Microcephaly,Opioid Addiction,Pheochromocytoma,Rhabdomyosarcoma,Hepatitis C Virus,Alacrima, Achalasia, And Mental Retardation Syndrome,Mood Disorder,Esophagus Sarcoma,Sarcoma,Anhidrosis,Pertussis,Fibrosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Disease Of Mental Health,Cholangiocarcinoma,Cervical Cancer,Bladder Squamous Cell Carcinoma,Fragile X Syndrome,Bladder Urothelial Carcinoma,Esophageal Cancer,Muscle Hypertrophy,Fibrodysplasia Ossificans Progressiva,Chromosome 22q11.2 Deletion Syndrome, Distal,Ewing Sarcoma,Heart, Malformation Of,Acute Promyelocytic Leukemia,Kaposi Sarcoma,Cardiomyopathy, Familial Hypertrophic, 25,Lung Cancer,Gordon Holmes Syndrome,Pancreatic Cancer

Corneal Endothelial Dystrophy,Neuroblastoma,Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder,Microcephaly,Corneal Dystrophy, Posterior Polymorphous, 1,Spinocerebellar Ataxia 14,Strabismus,White-Sutton Syndrome

Epilepsy,Polyhydramnios,Endometrial Squamous Cell Carcinoma,Breast Cancer,Megalencephaly,Benign Epilepsy With Centrotemporal Spikes,Scheuermann Disease,Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy

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

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

Fraser Syndrome 1

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

Pancreatic Adenocarcinoma,Endometrial Cancer,Smooth Muscle Tumor,Melanoma,Endometrial Hyperplasia,Leukemia, Chronic Myeloid,Leiomyosarcoma,Ocular Cancer,Retinal Cancer,Neuroblastoma,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Bladder Cancer,Lung Adenoma,Laryngeal Squamous Cell Carcinoma,Ovarian Cancer,Testicular Cancer,Eye Disease,Uterine Sarcoma,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Colorectal Cancer,Nervous System Cancer,Hepatocellular Carcinoma,Microcephaly,Pheochromocytoma,Skin Carcinoma,Gastric Cancer,Prostate Cancer,Cervical Cancer,Cecal Benign Neoplasm,Retinoblastoma,Sensory System Disease,Trichothiodystrophy 5, Nonphotosensitive,Mantle Cell Lymphoma,Gastrointestinal Stromal Tumor,Cecum Adenoma,Leukemia, Chronic Lymphocytic,Ataxia-Telangiectasia,Melanoma, Cutaneous Malignant 1,Lung Cancer,Pancreatic Cancer

Bone Cancer,Noma,Primary Bone Cancer,Dilated Cardiomyopathy,Breast Cancer,Prostate Cancer,Osteogenesis Imperfecta, Type Xviii,Scoliosis, Isolated 1,Scoliosis

Lung Cancer Susceptibility 3,Bartholin'S Gland Adenocarcinoma,Corneal Endothelial Dystrophy,Gastric Cancer,Lung Cancer

Non-Alcoholic Fatty Liver Disease,Bone Cancer,Diabetes Mellitus,Severe Combined Immunodeficiency Due To Ikk2 Deficiency,Alzheimer Disease,Ectodermal Dysplasia,T-Cell Lymphoblastic Leukemia/Lymphoma,Human Cytomegalovirus Infection,Hepatitis,Asbestos-Related Lung Carcinoma,Combined Immunodeficiency,Breast Cancer,Colorectal Cancer,Oral Candidiasis,Prostate Cancer,Immunodeficiency 15b,Body Mass Index Quantitative Trait Locus 11,Skin Disease,Type 2 Diabetes Mellitus,Immunodeficiency 15a,Inflammatory Bowel Disease,Tooth Agenesis,Tuberous Sclerosis 1,Immunodeficiency 45,Incontinentia Pigmenti,Kaposi Sarcoma,Autosomal Recessive Non-Syndromic Intellectual Disability,Lung Cancer,Pancreatic Cancer

Melanoma In Congenital Melanocytic Nevus,Pancreatic Adenocarcinoma,Skin Melanoma,Endometrial Cancer,Malignant Inflammatory Fibrous Histiocytoma,Childhood Acute Lymphocytic Leukemia,Retinitis Pigmentosa,Pancreas Sarcoma,Lung Cancer Susceptibility 3,Chondrosarcoma,Myofibrillar Myopathy,Rhabdomyosarcoma 2,Malignant Fibrous Histiocytoma,Melanoma,Plasma Cell Neoplasm,Dedifferentiated Liposarcoma,Myxofibrosarcoma,Myositis Ossificans,Leiomyosarcoma,Connective Tissue Cancer,Bone Sarcoma,Undifferentiated Embryonal Sarcoma Of The Liver,Infiltrating Lipoma,Large Cell Carcinoma,Ischemic Fasciitis,B-Cell Lymphoma,T-Cell Lymphoblastic Leukemia/Lymphoma,Ocular Cancer,Retinal Cancer,Familial Retinoblastoma,Embryonal Sarcoma,Retroperitoneal Sarcoma,Retroperitoneum Carcinoma,Neuroblastoma,Pilocytic Astrocytoma,Inherited Cancer-Predisposing Syndrome,Glioma,Leukemia, Acute Myeloid,Leukemia, Acute Lymphoblastic,Hereditary Melanoma,Ring Chromosome 7,Nodular Malignant Melanoma,Bladder Cancer,Spindle Cell Lipoma,Pleomorphic Lipoma,Lipoma Of Spermatic Cord,Paratesticular Lipoma,Melanoma, Cutaneous Malignant 3,Ring Chromosome,Lipoblastoma,Ovarian Cancer,Myeloid Leukemia,Burkitt Lymphoma,Adenocarcinoma,Testicular Cancer,T-Cell Acute Lymphoblastic Leukemia,Eye Disease,Breast Cancer,Glioblastoma,Squamous Cell Carcinoma, Head And Neck,Well-Differentiated Liposarcoma,Malignant Astrocytoma,Cellular Myxoid Liposarcoma,High Grade Glioma,Adult Liposarcoma,Pediatric Liposarcoma,Gliosarcoma,Gastric Liposarcoma,Breast Liposarcoma,Pleomorphic Liposarcoma,Mixed Liposarcoma,Spindle Cell Liposarcoma,Mediastinum Liposarcoma,Anaplastic Astrocytoma,Colorectal Cancer,Peripheral Nervous System Disease,Nervous System Cancer,Hepatocellular Carcinoma,Oligodendroglioma,Malignant Peripheral Nerve Sheath Tumor,Pheochromocytoma,Embryonal Rhabdomyosarcoma,Rhabdomyosarcoma,Myxoid Liposarcoma,Sarcoma,Extraosseous Osteosarcoma,Juxtacortical Osteosarcoma,Peripheral Osteosarcoma,Bone Osteosarcoma,Conventional Central Osteosarcoma,Liposarcoma Of Bone,Liposarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Infiltrating Angiolipoma,Thrombocytopenia,Retinoblastoma,Type 2 Diabetes Mellitus,Lung Squamous Cell Carcinoma,Diffuse Lipomatosis,Sensory System Disease,Muscle Cancer,Esophageal Cancer,Tumor Predisposition Syndrome,Diffuse Large B-Cell Lymphoma,Ewing Sarcoma,Mantle Cell Lymphoma,Acute Promyelocytic Leukemia,Inflammatory Myofibroblastic Tumor,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Nasopharyngeal Carcinoma,Lymphoma,Connective Tissue Benign Neoplasm,Kaposi Sarcoma,Leukemia, Chronic Lymphocytic,Li-Fraumeni Syndrome,Lipomatosis, Multiple,Dermatofibrosarcoma Protuberans,Parameningeal Embryonal Rhabdomyosarcoma,Myeloma, Multiple,Medulloblastoma,Melanoma, Cutaneous Malignant 1,Melanoma, Uveal,Neu-Laxova Syndrome 1,Lung Cancer,Osteogenic Sarcoma,Pancreatic Cancer

Pick Disease Of Brain

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

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

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

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

Open-Angle Glaucoma,Glaucoma, Primary Open Angle,Masa Syndrome

Bartholin'S Gland Adenocarcinoma,Bone Cancer,Polyploidy,Alzheimer Disease,Retinal Cancer,Neuroblastoma,Leukemia, Acute Myeloid,Hereditary Spastic Paraplegia,Leukemia, Acute Lymphoblastic,Bladder Cancer,Brain Cancer,Ovarian Cancer,Breast Cancer,Colorectal Cancer,Hepatocellular Carcinoma,Western Equine Encephalitis,Rhabdomyosarcoma,Fanconi Anemia, Complementation Group A,Neuronal Ceroid Lipofuscinosis,Breast Adenocarcinoma,Prostate Cancer,Cervical Cancer,Retinoblastoma,Lymphoma, Non-Hodgkin, Familial,Esophageal Cancer,Seckel Syndrome,Trichothiodystrophy 5, Nonphotosensitive,Mantle Cell Lymphoma,Gastrointestinal Stromal Tumor,Acute Promyelocytic Leukemia,Leukemia, Chronic Lymphocytic,Ceroid Lipofuscinosis, Neuronal, 2,Bloom Syndrome,Primary Autosomal Recessive Microcephaly,Ceroid Lipofuscinosis, Neuronal, 1,Lung Cancer,Frontotemporal Dementia

Liver Disease,Endometrial Cancer,Lung Cancer Susceptibility 3,Non-Alcoholic Fatty Liver Disease,Hepatitis C,Acantholytic Acanthoma,Leukemia, Chronic Myeloid,Diabetes Mellitus,Non-Alcoholic Steatohepatitis,Fatty Liver Disease,Alzheimer Disease,Epidermolysis Bullosa Simplex,Hepatitis,Colon Adenocarcinoma,Neuroblastoma,Cervical Non-Keratinizing Squamous Cell Carcinoma,Hereditary Spastic Paraplegia,Leukemia, Acute Lymphoblastic,Ovarian Cancer,Burkitt Lymphoma,Breast Cancer,Glioblastoma,Parkinson Disease, Late-Onset,Colorectal Cancer,Hepatocellular Carcinoma,Sarcoma,Fibrosarcoma,Skin Carcinoma,Gastric Cancer,Breast Adenocarcinoma,Prostate Cancer,Disease Of Mental Health,Rheumatoid Arthritis,Type 2 Diabetes Mellitus,Renal Fibrosis,Acute Promyelocytic Leukemia,Huntington Disease,Nasopharyngeal Carcinoma,Cardiomyopathy, Familial Hypertrophic, 25,Neu-Laxova Syndrome 1,Lung Cancer,Pancreatic Cancer