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

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

Papillary Serous Adenocarcinoma,Orofaciodigital Syndrome Vi

Colorectal 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

Adult-Onset Still'S Disease

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

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

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

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

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

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,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

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

Parkinson Disease, Late-Onset,Cataract 8, Multiple Types,Hepatitis C Virus,Rabies

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

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

Denys-Drash Syndrome,Lung Cancer

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

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

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

Myotonic Dystrophy,Epidermolysis Bullosa Simplex, Dowling-Meara Type

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

Dilated Cardiomyopathy,Cardiomyopathy, Dilated, 1dd

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

Retinitis Pigmentosa,Polyploidy,Plasma Protein Metabolism Disease,Primary Central Nervous System Lymphoma,Diamond-Blackfan Anemia,Myeloid Leukemia,Prostate Cancer,Mantle Cell Lymphoma

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

Polyposis Syndrome, Hereditary Mixed, 1,Hereditary Mixed Polyposis Syndrome,Osteogenesis Imperfecta, Type Xvii,Lung Cancer,Mosaic Variegated Aneuploidy Syndrome 1,Pancreatic Cancer

Dilated Cardiomyopathy,Restrictive Cardiomyopathy,Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy,Familial Atrial Fibrillation

Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease

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