941
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Filamin A |
ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD |
Curated: Ambiguous genitalia, Aortic aneurysm, Breast neoplasms, Cardiac valvular dysplasia, Conductive hearing loss, Congenital cartilage disorder, Congenital heart defects, Congenital idiopathic intestinal pseudoobstruction, Congenital omphalocele, Congenital short bowel syndrome, Connective tissue disease, Craniosynostosis, Desbuquois syndrome, Developmental delay, Dysgenesis of corpus callosum, Developmental and epileptic encephalopathy, Ehlers-danlos syndrome, Epilepsy, Thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia, Global developmental delay, Hearing loss, Periventricular nodular heterotopia, Hydronephrosis, Intellectual developmental disorder, Intestinal obstruction, Marfan syndrome, Migraine, Mitral valve prolapse, Myopia, Neurodevelopmental disorder, Nonalcoholic fatty liver disease, Orofacial cleft, Osteochondrodysplasias, Otopalatodigital spectrum disorder, Otopalatodigital syndrome, Patent ductus arteriosus, Periventricular heterotopia, x-linked, Scoliosis, Intellectual disability, Terminal osseous dysplasia with pigmentary defects, Tetralogy of fallot, Thrombocytopenia, Uranostaphyloschisis, Ventricular septal defect, Wolff-parkinson-white syndrome, X-linked ehlers-danlos syndrome, X-linked keloid scarring syndrome, familial thoracic aortic aneurysm and aortic dissection
Unreviewed: Accessory carpal bones, Achondroplasia, Acquired Kyphoscoliosis, Acromegaly, Acrosteolysis, Adenocarcinoma Of Colon, Adrenocortical carcinoma, Anemia, Aneurysm, Anodontia, Anterior segment dysgenesis, Anxiety Disorder, Aortic Aneurysm, Aortic Valve Insufficiency, Arachnodactyly, Arnold-Chiari malformation, Arteriosclerosis, Atherosclerosis, Behcet Syndrome, Bernard-soulier syndrome, Bicuspid aortic valve, Bladder carcinoma, Bladder Neoplasm, Blood coagulation disorder, Blood Coagulation Disorders, Bone Disease, Borderline personality disorder, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchitis, Bronchopulmonary Dysplasia, Carcinogenesis, Cardiac Defects, Cardiac valvular disease, Cardiac Valvular Dysplasia , X-Linked, Cardiomyopathy, Cardiovascular abnormalities, Cardiovascular disease, Cardiovascular Diseases, Cataract, Cerebellar Hypoplasia, Chondrodystrophic myotonia, Chronic Obstructive Pulmonary Disease, Clinodactyly, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Congenital Cerebral Hernia, Congenital Clubfoot, Congenital Coloboma Of Iris, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Exomphalos, Congenital heart defect, Congenital Heart Disease, Congenital kyphoscoliosis, Congenital Malformation Syndrome, Congenital malrotation of intestine, Congenital Pectus Excavatum, Congestive Heart Failure, Connective Tissue Disease, Constipation, Contracture, Cor pulmonale, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Cortical development malformation, Cryptorchidism, Cystic Fibrosis, Cystosarcoma Phyllodes, Dandy-Walker Syndrome, Deficiency Of Glucose-6-Phosphate Dehydrogenase, Dermatitis, Developmental Delay, Developmental dysplasia of the hip, Diabetes, Diabetes Mellitus, Dilated cardiomyopathy, Dislocated radial head, Down Syndrome, Dwarfism, Dyschondroplasias, Dyslexia, Dyslipidemias, Ectodermal dysplasia, Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome, X-Linked, Elbow flexion contracture, Emery-Dreifuss Muscular Dystrophy, Emphysema, Encephalitis, Endometrial Cancer, Endometrial carcinoma, Epileptic encephalopathy, Erectile Dysfunction, Facial dysmorphism, Facial dysmorphism syndrome, Facioscapulohumeral Muscular Dystrophy, Fatigue syndrome, FG Syndrome, FG Syndrome Phenotypic Spectrum, Fibroadenoma, Fibroma, Fibromuscular Dysplasia, Fibrosarcoma, Flexion Contracture Of Wrist, Frontal bossing, Frontometaphyseal Dysplasia, Gastroesophageal Reflux Disease, Glaucoma, Glaucoma, congenital, Glossoptosis, Graves Disease, Hearing Loss, Heart disease, Heart Failure, Heart Septal Defects, Hemoglobinopathy, Hemorrhage, Hepatocellular carcinoma, Heterotopia, High palate, Hodgkin Disease, Huntington Disease, Hydrocephalus, Hypercholesterolemia, Hyperemia, Hyperostosis, Hypertension, Hypodontia, Hypopituitarism, Hypoplasia Of Thumb, Hypospadias, Hypotonia, Hypotrichosis, Impaired Cognition, Infantile spasms, Intestinal disease, Intestinal Pseudoobstruction, Intestinal Pseudoobstruction, Neuronal, X-Linked, Intracranial Aneurysm, Kidney stone, Laryngeal Carcinoma, Leprosy, Leukemia, Lipoatrophy, Lipodystrophy, Lissencephaly, X-Linked, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung neoplasms, Lymphatic metastasis, Macrothrombocytopenia, Macrotia, Malabsorption Syndrome, Malformation of cortical development, Malignant Catatonia, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Meckel Syndrome, Medulloblastoma, Melanoma, Melnick-Needles Syndrome, Meningomyelocele, Mental Depression, Mental Disorders, Mental retardation, Metabolic Diseases, Metabolic Syndrome, Microcephaly, Micrognathism, Micromelia, Microstomia, Mitral Valve Dysplasia, Mitral Valve Prolapse, Monocytic Leukemia, Motor delay, Moyamoya disease, Multiple Epiphyseal Dysplasia, Multiple Sclerosis, Myeloid leukemia, Myelomonocytic Leukemia, Myocardial Infarction, Myopathy, Nail Diseases, Nail dysplasia, Nail dystrophy, Nasopharyngeal Cancer, Nasopharyngeal carcinoma, Neoplasms, Nephrolithiasis, Nervous System Disorder, Netherton syndrome, Neuroblastoma, Neuroendocrine Tumors, Neuronal Heterotopia, Neuronal Intestinal Pseudoobstruction, Obesity, Oculocerebrorenal syndrome, Oligodontia, Osteochondrodysplasia, Osteoporosis, Osteosclerosis, Otitis media, Oto-Palato-digital syndrome, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Palmoplantar keratoderma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Pancreatitis, Parathyroid Adenoma, Parathyroid neoplasm, Parathyroid Neoplasms, Parkinson disease, Paroxysmal nocturnal hemoglobinuria, Periapical Periodontitis, Periventricular heterotopia, Periventricular Heterotopia, X-Linked, Periventricular Nodular Heterotopia, Phyllodes Tumor, Pierre-Robin Syndrome, Platelet disorder, Polycystic Ovary Syndrome, Polymicrogyria, Postaxial hand polydactyly, Posteriorly Rotated Ear, Prolactinoma, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Pulmonary arterial hypertension, Pulmonary Emphysema, Pulmonary Hypertension, Pulmonary hypoplasia, Radial Polydactyly, Renal Artery Stenosis, Renal Carcinoma, Renal cell carcinoma, Respiration Disorders, Respiratory Failure, Respiratory Tract Diseases, Restrictive cardiomyopathy, Rheumatoid arthritis, Schwartz-Jampel Syndrome, Seizures, Seminoma, Septicemia, Septo-Optic Dysplasia, Short clavicles, Skeletal Dysplasia, Skin disease, Skin Lesion, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Spondylolysis, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stroke, Syndactyly, Syndactyly Of The Toes, Syringomyelia, Systemic lupus erythematosus, Tarsal Coalition, Terminal Osseous Dysplasia And Pigmentary Defects, Thoracic aortic aneurysm, Thoracic Aortic Aneurysm And Aortic Dissection, Tracheal Stenosis, Tricuspid Valve Insufficiency, Tricuspid Valve Prolapse, Triple Negative Breast Neoplasms, Trisomy, Tuberous Sclerosis, Urinary bladder cancer, Urinary bladder diseases, Urinary bladder neoplasms, Uterine neoplasm, Van Buchem Disease, Vascular Diseases, Vascular malformation, Ventricular arrhythmia, Vertical Talus, Vesicoureteral Reflux, West Syndrome, Wiskott-Aldrich Syndrome
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942
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Filamin B |
ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP |
Curated: Alzheimer disease, Aortic stenosis, Aortic valve disease, Atelosteogenesis, Boomerang dysplasia, Breast cancer, Bullous pemphigoid, Cleft palate, Congenital cartilage disorder, Congenital clubfoot, Connective tissue disease, Desbuquois syndrome, Digestive system disease, Eating disorder, Glaucoma, Larsen syndrome, Open angle glaucoma, Osteochondrodysplasias, Systemic sclerosis, FLNB-associated autosomal dominant filamin related bone disorder
Unreviewed: Abnormal spinal segmentation, Accessory carpal bones, Allergic rhinitis, Alloimmunisation, Ankylosing Spondylitis, Antisocial personality disorder, Anxiety Disorder, Aortic Aneurysm, Appendicitis, Arthritis, Atrial Septal Defect, Autoimmune Diseases, Autoimmune Thyroiditis, Bare Lymphocyte Syndrome, Behcet Syndrome, Bloom Syndrome, Bone disease, Boomerang Dysplasia, Brachydactyly, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchiectasis, Bronchomalacia, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular Abnormalities, Cardiovascular Diseases, Carpal synostosis, Cataract, Celiac disease, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Charcot-Marie-Tooth disease, Cholestasis, Clubfoot, Congenital Cerebral Hernia, Congenital Clubfoot, Congenital Dislocation Of Knee, Congenital omphalocele, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Conn Adenoma, Conn Syndrome, Craniosynostosis, Crohn Disease, Cryptorchidism, Dementia, Dental Enamel Hypoplasia, Dermatitis, Desbuquois Syndrome, Developmental Delay, Diabetes Mellitus, Diffuse Panbronchiolitis, Ductal carcinoma, Dwarfism, Eating Disorders, Eclampsia, Eczema, Embryonal carcinoma, Emery-Dreifuss Muscular Dystrophy, Epiphyseal dysplasia, Erythema nodosum, Esophageal Carcinoma, Esophagus Neoplasm, Frontal bossing, Glioblastoma, Glioma, Gonadal Dysgenesis, Granulomatosis With Polyangiitis, Graves Disease, Growth disorder, Hallucinations, Hashimoto Disease, Hearing Loss, Hemolytic uremic syndrome, Hepatocellular carcinoma, High palate, Hodgkin Disease, Hydrops Fetalis, Hyperaldosteronism, Hyperthyroidism, Hypodontia, Hypoplasia Of Spine, Hypoplasia of the maxilla, Hypoxia, immunodeficiency, Inflammatory Bowel Disease, Intervertebral Disc Degeneration, Isolated Somatotropin Deficiency, Kidney Failure, Larsen Syndrome, Laryngostenosis, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung Diseases, Lung Neoplasms, Lupus Erythematosus, Lymphoma, Malignant Neoplasm, Malnutrition, Malrotation of colon, Melanoma, Mental retardation, Mesothelioma, Micrognathism, Micromelia, Mucopolysaccharidosis, Multiple renal cysts, Multiple Sclerosis, Myasthenia Gravis, Myeloid leukemia, Myopathy, Nail-Patella Syndrome, Neoplasms, Neuroblastoma, Neurodegenerative Disorders, Osteochondrodysplasia, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Pancreatitis, Paresis, Parkinson disease, Pemphigus Vulgaris, Platybasia, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psoriasis, Psoriasis vulgaris, Psoriatic Arthritis, Pulmonary hypoplasia, Renal Carcinoma, Renal cyst, Renal Insufficiency, Retinal Dysplasia, Rheumatoid arthritis, Rhizomelia, Sarcoidosis, Schizophrenia, Scleroderma, Scoliosis, Scott Syndrome, Senile Dementia, Severe combined immunodeficiency, Short femur, Short-Limb Dwarfism, Skeletal Dysplasia, Skin Lesion, Sleep Disorders, Somatotropin Deficiency, Spina bifida occulta, Spinal cord compression, Spondylocarpotarsal Synostosis Syndrome, Spondylolysis, Stomach Carcinoma, Stomach Neoplasms, Syndactyly, Syndactyly of fingers, Talipes Equinovalgus, Tarsal Coalition, Thoracic hypoplasia, Tracheal Stenosis, Tracheomalacia, Triple negative breast cancer, Ulcerative colitis, Uterine neoplasm, Vasculitis, Ventricular septal defect, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
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944
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Filamin C |
ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5 |
Curated: Cardiac arrhythmia, Arrhythmogenic right ventricular cardiomyopathy, Asymmetric septal hypertrophy, Cardiomyopathy, Dilated cardiomyopathy, Cardiovascular disease, Cerebellar ataxia, Colorectal neoplasms, Conduction disorder of the heart, Distal myopathy, Restrictive cardiomyopathy, Heart disease, Heart failure, Hypertrophic cardiomyopathy, Myofibrillar myopathy, Nemaline myopathy, Spastic ataxia, Tetralogy of fallot, Wolff-parkinson-white syndrome
Unreviewed: Allergic rhinitis, Aortic aneurysm, Aortic Valve Sclerosis, Aortic valve stenosis, Arthrogryposis, Asthma, Bicuspid aortic valve, Bohring syndrome, Breast neoplasm, Camptocormia, Carcinoma, Cardiac arrhythmias, Cardiovascular Diseases, Cerebellar Ataxia, Cerebellar Diseases, Colorectal Cancer, Colorectal Neoplasms, Congenital Epicanthus, Congenital idiopathic intestinal pseudoobstruction, Congenital myopathy, Congestive Heart Failure, Cortical development malformation, Cystic Fibrosis, Distal lower limb amyotrophy, Distal Muscular Dystrophy, Distal Myopathy, Distal Myopathy With Posterior Leg And Anterior Hand Involvement, Distal upper limb amyotrophy, Emery-Dreifuss Muscular Dystrophy, Eosinophilia, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Frontometaphyseal dysplasia, Frontotemporal dementia, Gallbladder cancer, Glioblastoma, Glioma, Hearing loss, Hepatocellular carcinoma, Hypoxia, Incontinentia Pigmenti Achromians, Intestinal disease, Kidney failure, Larsen syndrome, Leukemia, Limb-Girdle Muscular Dystrophy, Liver carcinoma, Lobular carcinoma, Long QT Syndrome, Lymphatic Metastasis, Lymphoma, Malignant Neoplasm, Melanoma, Mitochondrial Diseases, Mitral Valve Prolapse, Motor neuron disease, Muscle Filaminopathy, Muscular dystrophy, Myopathy, Myotonia congenita, Neoplasms, Neuromuscular Diseases, Obesity, Osteoporosis, Ovarian neoplasm, Patent foramen ovale, Periventricular nodular heterotopia, Pica, Polyneuropathy, Prostate cancer, Prostatic hyperplasia, Prostatic neoplasm, Respiratory Failure, Sleep Apnea, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Two-Raphe Bicuspid Aortic Valve, Ventricular arrhythmia, Ventricular dysfunction, Ventricular ectopy, Ventricular tachycardia
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947
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Flotillin 2 |
ECS-1, ECS1, ESA, ESA1, M17S1 |
Curated: N/A
Unreviewed: Anemia, Atrial Fibrillation, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Carcinoma Of The Head And Neck, Colorectal neoplasm, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Ductal carcinoma, Endometrial Cancer, Fabry disease, Glioma, Kidney Disease, Kidney Failure, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Nasopharyngeal Carcinoma, Neoplasms, Nervous system disease, Oestrogen Receptor Positive Breast Cancer, Osteosarcoma, Pancreatic adenocarcinoma, Prostate cancer, Renal cell carcinoma, Small cell lung carcinoma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Uterine neoplasm
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