541
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Fibulin 1 |
FBLN, FIBL1 |
Curated: Arthrogryposis multiplex congenita, Color vision deficiency, Dental caries, Desbuquois syndrome, Endometriosis, Pena-shokeir syndrome , Prostatic neoplasms, Scoliosis, Synpolydactyly, Vascular dementia
Unreviewed: Adenocarcinoma Of Colon, Amyotrophic lateral sclerosis, Ankylosing spondylitis, Aortic disease, Aortic dissection, Asthma, Benign Neoplasm, Bernard Soulier Syndrome, Bernard-soulier syndrome, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Bone disease, Brain atrophy, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cardiovascular disease, Cardiovascular Diseases, Carpal synostosis, Cerebral Atrophy, Cholangiocarcinoma, Chronic Obstructive Pulmonary Disease, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital anomaly of limb, Congestive Heart Failure, Coronary artery disease, Coronary Syndrome, Cryptorchidism, Cyst, Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic neuropathy, Endometrioma, Epithelial ovarian carcinoma, Epithelioma, Fibrosarcoma, Frontotemporal dementia, Glaucoma, Glioma, Heart Failure, Hepatocellular carcinoma, Intellectual developmental disorder, Intrahepatic Cholangiocarcinoma, Ischemic Stroke, Kidney disease, Leiomyoma, Liver carcinoma, Liver failure, Malignant Neoplasm, Mammary Neoplasms, Melanoma, Meningioma, Multiple myeloma, Multiple Trichoepithelioma, Myotonic dystrophy, Neoplasms, Open angle glaucoma, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian cysts, Ovarian neoplasm, Peripheral arterial disease, Polycystic Ovary Syndrome, Polydactyly, Polyp Of Large Intestine, Primary hypertrophic osteoarthropathy, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Renal Carcinoma, Stomach Carcinoma, Stomach Neoplasms, Syndactyly, Syndactyly Of The Toes, Tarsal Coalition, Urinary bladder cancer, Uterine polyp
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543
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Fibulin 5 |
ADCL2, ARCL1A, ARMD3, CMT1H, DANCE, EVEC, FIBL-5, HNARMD, UP50 |
Curated: Cutis laxa, Central nervous system cancer, Charcot-marie-tooth disease, Accessory skin tag, Congestive heart failure, Demyelinating hereditary motor and sensory neuropathy, Emphysema, Essential tremor, Benign pemphigus, Glioblastoma, Glioma, Heart failure, Pulmonary hypertension, Darier disease, Age-related macular degeneration, Major depressive disorder, Optic atrophy, Prostatic neoplasms, Proximal spinal muscular atrophy, Rothmund-thomson syndrome, Vascular disease
Unreviewed: Aortic Aneurysm, Aortic dissection, Arachnodactyly, Asthma, Atherosclerosis, Basal Laminar Drusen, Bladder carcinoma, Bladder Diverticulum, Bladder Neoplasm, Blindness, Bowel diverticulosis, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cardiovascular Diseases, Charcot-Marie-Tooth Disease, Chronic Obstructive Pulmonary Disease, Colorectal Cancer, Congenital diaphragmatic hernia, Congenital Exomphalos, Congenital Pectus Excavatum, Congenital Pes Cavus, Congestive Heart Failure, Crohn Disease, Cutis Laxa, Demyelinating neuropathy, Diabetes, Diabetes Mellitus, Diabetic neuropathy, Distal amyotrophy, Diverticulum Of Renal Calyx, Doyne honeycomb retinal dystrophy, Drusen, Dystonia, Exfoliation Syndrome, Eye disease, Fibromuscular Dysplasia, Glaucoma, Glycogen storage disease, Heart Failure, Hepatocellular carcinoma, Hereditary Sensorimotor Neuropathy With Hyperelastic Skin, Hypersensitivity, Hypothyroidism, Iga nephropathy, Ileus, Inflammatory Bowel Disease, Leiomyoma, Liver carcinoma, Liver Fibrosis, Lung Cancer, Lung carcinoma, Lung Diseases, Lung Neoplasms, Lymphatic metastasis, Lymphoma, Macrocephaly, Alopecia, Cutis Laxa, And Scoliosis, Macular degeneration, Malignant Neoplasm, Marfan Syndrome, Microcephaly, Mouth disease, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Nervous System Diseases, Neuropathy, NEUROPATHY, HEREDITARY, WITH OR WITHOUT MACULAR DEGENERATION, Osteoarthritis, Osteoporosis, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pelvic Organ Prolapse, Peripheral arterial stenosis, Peripheral axonal neuropathy, Peripheral Neuropathy, Pneumothorax, Prostate cancer, Prostatic Neoplasms, Pterygium, Ptosis, Pulmonary Emphysema, Pulmonary Fibrosis, Pulmonary Stenosis, Rectal Prolapse, Respiratory Distress Syndrome, Respiratory Failure, Rufous oculocutaneous albinism, Scoliosis, Skin disease, Splenic neoplasms, Spontaneous pneumothorax, Stomach neoplasms, Supravalvar aortic stenosis, Ulcerative colitis, Urinary bladder cancer, Vascular Diseases, Vesicoureteral Reflux
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546
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|
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Fibrillin 1 |
ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2 |
Curated: Acromesomelic dysplasia, Aneurysm, Aortic aneurysm, Aortic rupture, Aortic valve disease, Arachnodactyly, Arthrogryposis-renal dysfunction-cholestasis syndrome, Brain aneurysm, Breast cancer, Brugada syndrome, Byzanthine arch palate, Dilated cardiomyopathy, Color vision deficiency, Colorectal cancer, Congenital aneurysm of ascending aorta, Congenital cataract, Congenital contractural arachnodactyly, Congenital diaphragmatic hernia, Congenital pectus carinatum, Congenital scoliosis, Connective tissue disease, Coronary artery disease, Craniosynostosis, Crest syndrome, Crst syndrome, Desbuquois syndrome, Dilatation of pulmonary artery, Aortic dissection, Coronary artery dissection, Ectopia lentis, Ehlers-danlos syndrome, Endometriosis, Thoracic aortic aneurysm and aortic dissection, Geleophysic dysplasia, Heart disease, Hyperglycemia, Hyperinsulinism, Left ventricular disease, Liver cirrhosis, Loeys-dietz syndrome, Marfan syndrome, Metaphyseal chondrodysplasia, Mitral valve prolapse, Mixed connective tissue disease, Myopathy, Myopia, Perrault syndrome, Pulmonary arterial hypertension, Ruptured abdominal aortic aneurysm, Ruptured aortic aneurysm, Ruptured thoracic aortic aneurysm, Scoliosis, Shprintzen-goldberg syndrome, Systemic sclerosis, Tetralogy of fallot, Thoracic aortic aneurysm, Thoracoabdominal aortic aneurysm, Weill-marchesani syndrome, familial thoracic aortic aneurysm and aortic dissection
Unreviewed: Achondroplasia, Acquired Kyphoscoliosis, Acromicric Dysplasia, Alzheimer disease, Amyloidosis, Androgen-Insensitivity Syndrome, Ankylosing Spondylitis, Anorexia, Anxiety Disorder, Aortic Aneurysm, Aortic disease, Aortic Diseases, Aortic Rupture, Aortic Valve Insufficiency, Aortic Valve Sclerosis, Arnold-Chiari malformation, Arteriosclerosis, Arthritis, Astigmatism, Ataxia, Atherosclerosis, Atrial Fibrillation, Atrial flutter, Atrophy, Autism, Bicuspid aortic valve, Brachycephaly, Brachydactyly, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bulbospinal Atrophy, X-Linked, Cadasil, CADASIL Syndrome, Carcinoma, Carcinosarcoma, Cardiac arrhythmias, Cardiomyopathy, Cardiovascular Abnormalities, Cardiovascular disease, Cardiovascular Diseases, Cataract, Cerebrovascular disorder, Cervical Intraepithelial Neoplasia, Chronic disease, Cognition disorder, Colitis, Collagenopathy, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Communicating Hydrocephalus, Compensatory Hyperinsulinemia, Congenital abnormalities, Congenital adrenal hyperplasia, Congenital alveolar dysplasia, Congenital Aneurysm Of Ascending Aorta, Congenital anomaly of eye, Congenital Clubfoot, Congenital Contractural Arachnodactyly, Congenital Dilatation Of Pulmonary Artery, Congenital Exomphalos, Congenital genu recurvatum, Congenital heart defect, Congenital Keratoglobus, Congenital kyphoscoliosis, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Congestive Heart Failure, Connective Tissue Disease, Contracture, Cornea Plana, Corneal disease, Corneal opacity, Coronary Arteriosclerosis, Coronary Heart Disease, Cryptorchidism, Cutis Laxa, Cutis marmorata, Dermatomyositis, Descending aortic dissection, Developmental Delay, Developmental dysplasia of the hip, Diabetes, Diabetes complications, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Diaphragmatic malformations, Dissecting Aortic Aneurysm, Dissection of aorta, Dolichocephaly, Duchenne muscular dystrophy, Dwarfism, Dysmorphic Features, Dysmorphism, Dyspnea, Paroxysmal, Ectopia Lentis, Ectopia Lentis Isolated, Ehlers-Danlos Syndrome, Emphysema, Endocarditis, Endogenous Hyperinsulinism, Endometrial neoplasm, Endometrioma, Exogenous Hyperinsulinism, Exotropia, Fibromyxosarcoma, Follicular Thyroid Carcinoma, Fragile X Syndrome, Frontal bossing, Gallbladder neoplasm, Gastroesophageal Reflux Disease, Gaucher disease, Geleophysic Dysplasia, GEMSS Syndrome, Glaucoma, Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome, Glomerulonephritis, Growth disorder, Hearing Loss, Heart failure, Heart valve disease, Hemophilia b, Hepatocellular carcinoma, Hepatomegaly, High palate, Hodgkin Disease, Homocystinuria, Huntington Disease, Hydrocephalus, Hydronephrosis, Hyperhomocysteinemia, Hypersensitivity, Hypertension, Hyperthyroidism, Hypoglycemia, Hypophosphatemic Rickets, Hypoplasia Of Iris, Hypoplasia of the maxilla, Hypoplasia Of Thumb, Hypoxia, Impaired Cognition, Infantile Spasms, Insulinoma, Intracranial Aneurysm, Intracranial hypertension, Iridodonesis, Ischemic Stroke, Isolated Ectopia Lentis, Kidney Disease, Kidney neoplasm, Leiomyoma, Lens Subluxation, LEOPARD Syndrome, Lipoatrophy, Lipodystrophy, Liver Cirrhosis, Liver disease, Liver Fibrosis, Loeys-Dietz Syndrome, Lujan-Fryns Syndrome, Lumbar scoliosis, Lung Cancer, Lung carcinoma, Lung disease, Lung Diseases, Lung neoplasms, Lupus Nephritis, Lymphatic metastasis, Lymphedema, Lymphoma, Macrocephaly, Macrostomia, Malignant Neoplasm, Malocclusion, Marfan Lipodystrophy Syndrome, Marfan Syndrome, MASS syndrome, Maternal hypertension, Melanoma, Mental Depression, Mental Disorders, Mental retardation, Metabolic Diseases, Metabolic Syndrome, Metaphyseal Chondrodysplasia, Microcephaly, Micrognathism, Microspherophakia, Microstomia, Mitral Valve Dysplasia, Mitral Valve Prolapse, Mitral Valve Stenosis, Motor delay, Mucopolysaccharidosis, Multiple Congenital Anomalies, Myocardial Infarction, Myocardial Ischemia, Necrosis, Neoplasms, Nephrocalcinosis, Nephrolithiasis, Non-Alcoholic Fatty Liver Disease, Nystagmus, Obesity, Open angle glaucoma, Ophthalmoplegia, Osteoarthritis, Osteochondrodysplasia, Osteopenia, Osteoporosis, Osteosarcoma, Osteosclerosis, Ovarian neoplasm, Pachyonychia Congenita, Pancreatic ductal carcinoma, Papillary thyroid carcinoma, Patent ductus arteriosus, Periodontal Diseases, Periodontitis, Peripheral arterial stenosis, Polycystic kidney disease, Polycystic liver disease, Polycystic Ovary Syndrome, Polycythemia, Polycythemia vera, Pontocerebellar hypoplasia, Posteriorly Rotated Ear, Postnatal asphyxia, Premature osteoarthritis, Progeroid and marfanoid aspect-lipodystrophy syndrome, Proptosis, Prostatic neoplasm, Pterygium, Ptosis, Pulmonary artery dilatation, Pulmonary Emphysema, Pulmonary Fibrosis, Pulmonary Hypertension, Pulmonary Stenosis, Renal Carcinoma, Renal cell carcinoma, Renal Tubular Acidosis, Respiratory Failure, Retinal Detachment, Rotator cuff syndrome, Scaphocephaly, Schizophrenia, Scleroderma, Seminoma, Senile Cardiac Amyloidosis, Shprintzen-Goldberg Syndrome, Sick Sinus Syndrome, Sinusitis, Skeletal Dysplasia, Skin disease, Spade-Like Hand, Spondylolisthesis, Spontaneous coronary artery dissection, Spontaneous pneumothorax, Stiff Skin Syndrome, Stomach neoplasms, Strabismus, Subarachnoid hemorrhage, Succinic Semialdehyde Dehydrogenase Deficiency, Supravalvar aortic stenosis, Sveinsson chorioretinal atrophy, Syndactyly, Synovitis, Talipes calcaneovalgus, Tay-Sachs Disease, Testicular neoplasm, Tetralogy of Fallot, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracic disease, Thyroid cancer, Thyroid Carcinoma, Tracheal Stenosis, Tracheobronchomalacia, Transient Ischemic Attack, Trichohepatoenteric Syndrome, Tricuspid valve disease, Tricuspid Valve Insufficiency, Tricuspid Valve Prolapse, Triple negative breast cancer, Urinary bladder neoplasms, Uterine Fibroids, Varicose veins, Vascular Diseases, Ventricular arrhythmia, Ventricular dysfunction, Ventricular fibrillation, Ventricular septal defect, Ventricular tachycardia, Vitreoretinal degeneration, Weill-Marchesani Syndrome, West Syndrome, Williams Syndrome, Wiskott-Aldrich Syndrome
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548
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Fibrillin 2 |
CCA, DA9, EOMD |
Curated: Alzheimer disease, Aortic aneurysm, Autism, Brain aneurysm, Breast cancer, Dilated cardiomyopathy, Cardiovascular disease, Carpal tunnel syndrome, Colorectal neoplasms, Congenital contractural arachnodactyly, Connective tissue disease, Coronary artery disease, Craniosynostosis, Desbuquois syndrome, Ehlers-danlos syndrome, Thoracic aortic aneurysm and aortic dissection, Global developmental delay, Hypertension, Loeys-dietz syndrome, Macular degeneration, Marfan syndrome, Migraine, Multiple system atrophy, Myocardial infarction, Myopathy, Obesity, Ocular sarcoidosis, Osteoarthritis, Pelvic organ prolapse, Pena-shokeir syndrome , Potassium deficiency, Psoriasis, Scoliosis, Myopia, Strabismus, Systemic lupus erythematosus, Tetralogy of fallot, Uterine prolapse, Ventricular septal defect
Unreviewed: Adenocarcinoma, Adenoma, Age-related macular degeneration, Androgen-Insensitivity Syndrome, Aortic Aneurysm, Aortic dissection, Arachnodactyly, Arteriosclerosis, Arthritis, Arthrogryposis, Arthrogryposis multiplex congenita, Atherosclerosis, Atrial Septal Defect, Aural Atresia, Congenital, beta Thalassemia, Bicuspid aortic valve, Brachycephaly, Breast Cancer, Breast Carcinoma, Carcinoma, Cardiovascular Diseases, Carotid artery stenosis, Cerebral hemorrhage, Cerebrovascular Disorders, Cholangiocarcinoma, Cholestasis, Cirrhosis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital heart defect, Congenital Heart Disease, Congenital kyphoscoliosis, Congenital malrotation of intestine, Connective Tissue Disease, Corneal dystrophy, Coronary Arteriosclerosis, Coronary Heart Disease, Cutis Laxa, X-Linked, Developmental Delay, Developmental disability, Diabetes, Diabetes Insipidus, Diabetes Mellitus, Disorder Of Macula Of Retina, Distal arthrogryposis, Dolichocephaly, Down Syndrome, Duodenal Atresia, Dyslipidemias, Dysmorphism, Eclampsia, Ectopia Lentis, Elbow flexion contracture, Flexion Contracture Of Hip, Flexion Contracture Of Wrist, Frontal bossing, Glaucoma, Graves Disease, Hemorrhage, High palate, Inflammatory Bowel Disease, Intracranial Aneurysm, Intrahepatic Cholangiocarcinoma, Kidney Disease, Kidney Failure, Larynx cancer, Left Ventricular Hypertrophy, Liver carcinoma, Liver Cirrhosis, Lung Cancer, Lung carcinoma, Macular Degeneration, Malignant Neoplasm, Marfan Syndrome, Mason type diabetes, Medulloblastoma, Menkes Kinky Hair Syndrome, Mental Depression, Metabolic Diseases, Metabolic Syndrome, Mitral Valve Prolapse, Motor delay, Myeloid Leukemia, Neoplasms, Osteogenesis imperfecta, Osteopenia, Pancreatic cancer, Pancreatic carcinoma, Patent ductus arteriosus, Pierre-Robin Syndrome, Polycystic ovary syndrome, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Retinitis Pigmentosa, Sarcoma, Scaphocephaly, Sclerosing Cholangitis, Squamous cell carcinoma, Stomatitis, Stroke, Syndactyly, Tetralogy of Fallot, Thoracic aortic aneurysm, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracolumbar scoliosis, Tracheomalacia, Urinary bladder neoplasms, Vertical Talus, Visceral Myopathy
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550
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Fructose-bisphosphatase 1 |
FBP |
Curated: Alzheimer disease, Hepatocellular carcinoma, Colonic neoplasms, Colorectal cancer, Galactokinase deficiency, Dementia, Endometrial neoplasms, Liver failure, Nephrolithiasis, Obesity, Parkinson disease, Schizophrenia, Stomach neoplasms, fructose-1,6-bisphosphatase deficiency
Unreviewed: Anemia, Arthrogryposis multiplex congenita, B-Cell Lymphoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital Contractural Arachnodactyly, Deficiency Of Hexosediphosphatase, Diabetes, Diabetes Mellitus, Diffuse Lymphoma, Ectopia lentis, Esophageal squamous cell carcinoma, Fatty Liver, Fructose-1,6-Bisphosphatase Deficiency, Fructose-1,6-Diphosphatase Deficiency, Gastric Cancer, Glioblastoma, Glioma, Glycogen Storage Disease, Hemolytic anemia, Hepatitis c, Hyperbilirubinemia, Hyperuricemia, Hypoglycemia, Hypothyroidism, Hypoxia, Immune system disease, Intermittent lactic acidemia, Ketosis, Kidney disease, Lactic acidosis, Language development disorders, Leukemia, Liver Cancer, Liver carcinoma, Liver neoplasm, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphoma, Malignant Neoplasm, Mason type diabetes, Mental retardation, Myeloid leukemia, Myocardial Infarction, Neoplasms, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Prostate cancer, Prostatic neoplasm, Pseudohyperkalemia Cardiff, Renal Carcinoma, Renal cell carcinoma, Renal glycosuria, Rett Syndrome, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Triple negative breast cancer, Urinary bladder neoplasms
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