190814
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Titin |
CMD1G, CMH9, CMPD4, CMYO5, CMYP5, EOMFC, HMERF, LGMD2J, LGMDR10, MYLK5, SALMY, TMD |
Curated: Arrhythmogenic right ventricular cardiomyopathy, Atrial fibrillation, Atrial flutter, Centronuclear myopathy, Limb girdle muscular dystrophy, Brugada syndrome, Cardiac arrhythmia, Cardioembolic stroke, Cardiomyopathy, Dilated cardiomyopathy, Cerebral palsy, Progressive contractures limb-girdle weakness muscle dystrophy syndrome, Multiminicore myopathy, Atrioventricular block, Conduction disorder of the heart, Congenital myopathy, Distal muscular dystrophy, Distal myopathy, Early-onset myopathy with fatal cardiomyopathy, Long qt syndrome, Restrictive cardiomyopathy, Sick sinus syndrome, Feingold syndrome, Gross motor development delay, Hearing loss, Heart failure, Hereditary atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular disease, Left ventricular noncompaction cardiomyopathy, Major depressive disorder, Mitral valve prolapse, Muscular dystrophy, Myopathy, Neuromuscular disease, Orofacial cleft, Polymorphic catecholaminergic ventricular tachycardia, Right ventricular cardiomyopathy, Schizophrenia, Diabetes mellitus type 2, Ventricular fibrillation, Wolff-parkinson-white syndrome, myopathy, myofibrillar, 9, with early respiratory failure, tibial muscular dystrophy, dilated cardiomyopathy 1G, TTN-related myopathy, dominant-negative TTNsv, TTN-related myopathy
Unreviewed: N/A
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190816
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Alpha tocopherol transfer protein |
ATTP, AVED, TTP1, alphaTTP |
Curated: Ataxia with vitamin e deficiency, Atherosclerosis, Vitamin e deficiency, Headache, Nervous system disease, Optic atrophy, Retinitis pigmentosa, Urination disorders, Visual disorder
Unreviewed: Age-related macular degeneration, Ataxia, Cardiomyopathy, Clinodactyly, Deafness, Developmental Delay, Developmental regression, Diabetes Mellitus, Dysarthria, Dyslalia, Dystonia, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Eyelid Xanthoma, Fabry disease, Friedreich Ataxia, Head and neck neoplasm, Hemeralopia, Hemiplegia/hemiparesis, Hepatocellular carcinoma, Hypercholesterolemia, Hypertrophic cardiomyopathy, Liver carcinoma, Macular Degeneration, Malignant Neoplasm, Mental retardation, Microstomia, Myocardial Infarction, Neoplasms, Nervous System Disorder, Neurodegenerative disorder, Neurodegenerative Disorders, Neuronal Ceroid Lipofuscinosis, Neuropathy, Nyctalopia, Nystagmus, Posteriorly Rotated Ear, Prostate cancer, Prostatic neoplasm, Retinal Diseases, Retinitis Pigmentosa, Scoliosis, Sensory neuropathy, Somatosensory Disorders, Speech Disorders, Spinocerebellar Ataxia, Urination Disorders, Vision Disability, Vitamin E Deficiency, Xanthoma, Xanthoma Tendinosum
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190819
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Transthyretin |
ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN |
Curated: Alzheimer disease, Amyloid neuropathy, Amyloid polyneuropathy, Amyloidosis, Brugada syndrome, Cardiomyopathy, Carpal tunnel syndrome, Charcot-marie-tooth disease, Conduction disorder of the heart, Major depressive disorder, Dystransthyretinemic euthyroidal hyperthyroxinemia, Heart disease, Hyperthyroxinemia, Kidney failure, Lung neoplasms, Senile systemic amyloidosis, Transthyretin amyloid cardiomyopathy, Wild-type transthyretin-related amyloidosis, obsolete hereditary ATTR amyloidosis
Unreviewed: 5q-syndrome, AA amyloidosis, Acne, Acute Kidney Insufficiency, Adenocarcinoma, Adrenal Gland Pheochromocytoma, Adrenoleukodystrophy, Adrenomyeloneuropathy, Age-related macular degeneration, AMYLOID CARDIOMYOPATHY, Amyloid Neuropathy, Amyloid Polyneuropathy, Amyloidogenic Transthyretin Amyloidosis, AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED, Amyotrophic Lateral Sclerosis, Amyotrophy, Anemia, Anxiety Disorder, Aortic disease, Aortic valve calcification, Aortic Valve Insufficiency, Aortic Valve Sclerosis, Aortic valve stenosis, Arrhythmogenic right ventricular cardiomyopathy, Arteriosclerosis, Arthritis, Arthrogryposis, Arthrogryposis multiplex congenita, Ataxia, Atherosclerosis, Atrial Fibrillation, Atrial Septal Defect, Atrioventricular block, Atrophy, ATTRV122I amyloidosis, Aural Atresia, Congenital, Autism, Autoimmune disease, Autoimmune Diseases, Autonomic Central Nervous System Diseases, Autonomic nervous system disease, AV nodal reentry tachycardia, B-Cell Lymphoma, Becker Muscular Dystrophy, Benign Neoplasm, Bicuspid aortic valve, Biventricular hypertrophy, Bladder carcinoma, Blood coagulation disorder, Blood protein disorder, Bohring syndrome, Bone Marrow Diseases, Brain atrophy, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cardiac arrhythmias, Cardiomegaly, Cardiovascular disease, Cardiovascular Diseases, Carpal Tunnel Syndrome, Central core myopathy, Central nervous system disease, Centronuclear Myopathy, Cerebellar ataxia, Cerebral amyloid angiopathy, Cerebral Atrophy, Cerebral Ischemia, Cerebral palsy, Cerebrovascular disorder, Cerebrovascular Disorders, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth disease, Cholangiocarcinoma, Choriocarcinoma, Choroid Plexus Papilloma, Chronic obstructive pulmonary disease, Cleft palate, CNS Disorder, Cognition disorder, Cognitive disorder, Colitis, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complete Atrioventricular Block, Conduction Disorder Of The Heart, Congenital abnormalities, Congenital alveolar dysplasia, Congenital Clubfoot, Congenital contracture, Congenital heart defect, Congenital muscular dystrophy, Congenital myopathy, Congenital Torticollis, Congestive Heart Failure, Constipation, Contracture, Corneal opacity, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary Stenosis, Coronary Syndrome, CREST Syndrome, Crisponi syndrome, Deglutition disorder, Dementia, Demyelinating neuropathy, Dermatomyositis, Developmental delay, Diabetes, Diabetes complications, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Diabetic Retinopathy, Diarrhea, Dilated Cardiomyopathy, Disorder Of Eye, Disorder Of Skeletal Muscle, Distal Muscular Dystrophy, Distal Myopathy, Down Syndrome, Drachtman Weinblatt Sitarz syndrome, Duchenne Muscular Dystrophy, Dwarfism, Dysarthria, Dysautonomia, Dysbiosis, Dyskinesia, familial, with facial myokymia, Dystransthyretinemic Euthyroidal Hyperthyroxinemia, Edema, Endometrial neoplasm, Endometrial Stromal Sarcoma, Ependymoma, Epidermodysplasia Verruciformis, Epileptic encephalopathy, Episodic ataxia, Epithelial ovarian carcinoma, Epithelioma, Erectile Dysfunction, Esophagus Neoplasm, Exocrine pancreatic insufficiency, Fabry disease, Facial paralysis, Fanconi Anemia, Frontotemporal dementia, Gallstones, Gastric Cancer, Gastrointestinal disease, Gestational diabetes, Glaucoma, Glioma, Glycogen Storage Disease, Graves Disease, Head and neck cancer, Head And Neck Carcinoma, Headache, Hearing Loss, Heart Block, Heart Diseases, Heart Failure, Hematologic Neoplasms, Hemolytic anemia, Hepatic Encephalopathy, Hepatitis b, Hepatoblastoma, Hepatocellular carcinoma, Hepatomegaly, Hereditary Myopathy With Early Respiratory Failure, Hereditary sensory and autonomic neuropathy, Heredodegenerative Disorders, Nervous System, Heterotaxy syndrome, High palate, Hip Contracture, Hodgkin Disease, Huntington Disease, Hydrops Fetalis, Hyperglycemia, Hyperoxaluria, Hypersensitivity, Hypertension, Hyperthyroidism, Hypertrophic cardiomyopathy, Hypertrophy, Hypoalbuminemia, Hypophosphatasia, Hypothyroidism, Hypoxia, Iga nephropathy, Impaired Cognition, Inclusion body myopathy, Inclusion Body Myositis, Infiltrating Duct Carcinoma Of Female Breast, Iron overload, Ischemic Stroke, Islet Cell Tumor, Kidney Disease, Kidney Failure, Lafora Disease, Lattice corneal dystrophy, Leber hereditary optic neuropathy, Left ventricular disease, Left Ventricular Hypertrophy, Left ventricular noncompaction, Leukemia, Lewy body disease, Limb-Girdle Muscular Dystrophy, Lipoatrophy, Lipodystrophy, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Nephritis, Lymphatic metastasis, Lymphedema, Lymphoma, Machado-Joseph Disease, Malabsorption Syndrome, Malignant gastrointestinal tract tumors, Malignant Neoplasm, Malnutrition, Malocclusion, Mason type diabetes, Medulloblastoma, Melanoma, Meningioma, Mental Depression, Mental retardation, Metabolic Diseases, Metabolic Syndrome, Metastatic Melanoma, Metastatic Prostate Carcinoma, Microstomia, Migraine, Minicore myopathy with external ophthalmoplegia, Miscarriage, Mitochondrial Diseases, Mitral Valve Prolapse, Monoclonal Gammapathies, Mood Disorder, Motor delay, Motor nerve neuritis, Mouth neoplasm, Mucinous Adenocarcinoma, Multiminicore Myopathy, Multiple Congenital Anomalies, Multiple myeloma, Multiple polyposis syndrome, Multiple sclerosis, Muscular dystrophy, Myasthenia Gravis, Mycosis fungoides, Myelodysplastic Syndrome, Myeloid Leukemia, Myeloproliferative disorder, Myocardial Infarction, Myocarditis, Myofibrillar myopathy, Myopathy, Myopathy With Fatal Cardiomyopathy, Myopia, Myositis, Myotonia congenita, Myotonic dystrophy, Nausea, Neck Webbing, Necrotizing myopathy, Nemaline myopathy, Neoplasms, Nephroblastoma, Nephrotic Syndrome, Nervous system disease, Nervous System Diseases, Nervous System Disorder, Neurilemmoma, Neuroblastoma, Neurodegenerative Disorders, Neurofibromatosis, Neuromuscular disease, Neuromuscular Diseases, Neuropathy, Noncompaction cardiomyopathy, Nystagmus, Obesity, Open angle glaucoma, Orthostatic hypotension, Osteoarthritis, Osteoporosis, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian neoplasm, Ovarian serous adenocarcinoma, Palmoplantar keratoderma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Endocrine Carcinoma, Pancreatic neoplasm, Pancreatitis, Pancytopenia, Papilloma, Paraganglioma, Paraplegia, Paresthesia, Parkinson disease, Paroxysmal atrial fibrillation, Pena-shokeir syndrome, Pericardial effusion, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Peroneal muscle atrophy, Phenylketonuria, Pheochromocytoma, Pleural effusion, Polyneuropathy, Porphyria, Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome, Propionic acidemia, Prostate cancer, Prostatic neoplasm, Ptosis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary Stenosis, Reactive Systemic Amyloidosis, Refsum Disease, Renal Carcinoma, Renal fibrosis, Renal Insufficiency, Respiratory Failure, Restrictive cardiomyopathy, Retinal degeneration, Retinal detachment, Rett Syndrome, Rhabdomyosarcoma, Rheumatoid arthritis, Right ventricular hypertrophy, Rigid spine muscular dystrophy, Sarcoma, Schizophrenia, Scleroderma, Scoliosis, Senile Cardiac Amyloidosis, Senile Dementia, Senile Plaques, Sensorimotor neuropathy, Sepsis, Sexual Dysfunction, Sick Sinus Syndrome, Sleep Apnea, Small Fiber Neuropathy, Spastic Cerebral Palsy, Spinal Cord Diseases, Spinal Muscular Atrophy, Spinocerebellar Ataxia, Squamous cell carcinoma, ST Segment Elevation Myocardial Infarction, Stomach Carcinoma, Stomach Neoplasms, Stroke, Subarachnoid hemorrhage, Sveinsson Chorioretinal Atrophy, Syndromic microphthalmia, Synovitis, Systemic lupus erythematosus, Systemic mastocytosis, Tauopathies, Temporomandibular Joint Disorders, Tetralogy of Fallot, Thoracolumbar scoliosis, Thrombosis, Thymoma, Thyroid cancer, Thyroid Hormone Resistance, Thyrotoxicosis, Tibial muscular dystrophy, Toxic Goiter, Transient Ischemic Attack, TRANSTHYRETIN-RELATED AMYLOID CARDIOMYOPATHY, Trichohepatoenteric Syndrome, Trigger Finger Disorder, Triglyceride Storage Disease With Ichthyosis, Triple negative breast cancer, Tyrosinemia, Upper extremity deformity, congenital, Urinary bladder neoplasms, Urinary retention, Vascular Diseases, Venous insufficiency, Venous thromboembolism, Ventricular arrhythmia, Ventricular dysfunction, Ventricular Failure, Ventricular fibrillation, Ventricular hypertrophy, Ventricular remodeling, Ventricular tachycardia, Visceral amyloidosis, Visual disorder, Vitelliform Macular Dystrophy, Welander Distal Myopathy, Wolff-Parkinson-White Syndrome
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