2504
|
|
|
Collagen type I alpha 1 chain |
CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4 |
Curated: Ankylosing spondylitis, Aortic dissection, Aortic valve disease, Jeune syndrome, Autoimmune disease, Beta thalassemia, Bone fragility with contractures, arterial rupture, and deafness, Breast cancer, Caffey disease, Calcinosis, Dilated cardiomyopathy, Cervical disc degenerative disorder, Cholangitis, Cholelithiasis, Ehlers-danlos syndrome, Combined osteogenesis imperfecta and ehlers-danlos syndrome , Congenital heart disease, Connective tissue disease, Cortical congenital hyperostosis, Dentinogenesis imperfecta, Dermatofibrosarcoma protuberans, Desbuquois syndrome, Epiphyseal dysplasia, Thoracic aortic aneurysm and aortic dissection, Heart valve disease, Heart valve prolapse, Hypertension, Hypertrophic cardiomyopathy, Hypertrophy, Keratoconus, Left ventricular disease, Liver cirrhosis, Auricle malformation, Marfan syndrome, Maternal hypertension, Nephrosclerosis, Nephrotic syndrome, Oral submucous fibrosis, Osteogenesis imperfecta, Osteopenia, Osteoporosis, Osteoporosis-pseudoglioma syndrome, Rhizomelia, Skeletal dysplasia, Stickler syndrome, COL1A1-related Ehlers-Danlos syndrome
Unreviewed: Alopecia, Anaplasia, Anaplastic Astrocytoma, Anaplastic thyroid cancer, Aneurysm, Angle Closure Glaucoma, Anodontia, Aortic Aneurysm, Aortic Valve Insufficiency, Aphasia, Arachnodactyly, Arthritis, Arthrochalasia Ehlers-Danlos syndrome, Arthropathy, Asthma, Astrocytoma, Atherosclerosis, Atrial Fibrillation, Atrial Septal Defect, Atrophy, Autoimmune Diseases, Autoimmune Lymphoproliferative Disorder, Avascular Necrosis Of The Capital Femoral Epiphysis, Axenfeld anomaly, Barrett esophagus, Benign mucous membrane pemphigoid, beta Thalassemia, Biliary atresia, Blood coagulation disorder, Blood Coagulation Disorders, Bone Disease, Bone neoplasms, Bowen’s disease, Bradycardia, Brain disease, Brain ischemia, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bruck Syndrome, Caffey Disease, Campomelic Dysplasia, Carcinogenesis, Cardiac valvular disease, Cardiomyopathy, Cardiovascular disease, Carotid artery stenosis, Cartilage disease, Cholangiocarcinoma, Cholestasis, Chronic disease, Chronic Obstructive Pulmonary Disease, Cirrhosis, Classical-Like Ehlers-Danlos Syndrome, Cleft lip, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Combined pituitary hormone deficiency, Congenital Clubfoot, Congenital Contractural Arachnodactyly, Congenital contracture, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Exomphalos, Congenital glaucoma, Congenital Hip dislocation, Congenital Keratoglobus, Congenital Pectus Carinatum, Congestive Heart Failure, Connective Tissue Disease, Corneal Dystrophy, Coronary Heart Disease, Cortical Congenital Hyperostosis, Crohn Disease, Dentin dysplasia, Dentinogenesis Imperfecta, Dermatofibrosarcoma, Dermatofibrosarcoma Protuberans, Dermatomyositis, Developmental delay, Developmental dysplasia of the hip, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic retinopathy, Drachtman Weinblatt Sitarz syndrome, Ductal carcinoma, Dupuytren contracture, Dwarfism, Dysmorphic Features, Dysphasia, Ear Diseases, Ectopia Lentis, Ectrodactyly, Eczema, Ehlers-Danlos Syndrome, Endometrial neoplasm, Endometrial Neoplasms, Endometriosis, Eosinophilia, Epidermolysis Bullosa, Epilepsy, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Eye abnormalities, Fatty Liver, Fibrosarcoma, Fibrosis Of Pancreas, Fibrous Histiocytoma, Fraser syndrome, Frontal bossing, Frontotemporal dementia, Gastritis, Gastroesophageal reflux disease, Gestational diabetes, Giant Cell Fibroblastoma, Glaucoma, Glioblastoma, Glioma, Gliosarcoma, Glomerulosclerosis, Growth disorder, Hashimoto Disease, Hearing Loss, Heart failure, Hemorrhage, Hemorrhagic disease, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hereditary pyropoikilocytosis, Hernia, Femoral, Hiatal Hernia, High Bone Mass Osteogenesis Imperfecta, Hydrops Fetalis, Hypermobility Syndrome, Hyperphenylalaninemia, Hypersensitivity, Hyperthyroidism, Hyperuricemia, Hypophosphatasia, Hypopituitarism, Hypospadias, Hypoxia, Idiopathic pulmonary fibrosis, Impaired Cognition, Inflammatory Bowel Disease, Intervertebral Disc Degeneration, Intervertebral disc disease, Intervertebral Disc Disorder, Intracranial aneurysm, Intraductal noninfiltrating carcinoma, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney neoplasm, Learning Disorders, Left Ventricular Hypertrophy, Legg-Calve-Perthes Disease, Leiomyoma, Leiomyosarcoma, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Lobstein Disease, Lumbar Disc Disease, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lupus Nephritis, Lymphatic metastasis, Macular degeneration, Malignant Histiocytoma, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, MASS syndrome, Melanoma, Mental retardation, Mesothelioma, Metabolic Bone Disorder, Metastatic Dermatofibrosarcoma Protuberans, Microcornea, Microdontia, Micrognathism, Migraine, Miscarriage, Mitral Valve Prolapse, Mouth disease, Mouth neoplasm, Multiple myeloma, Multiple Trichoepithelioma, Myeloproliferative disorder, Myopia, Myositis Ossificans, Nasopharyngeal Carcinoma, Neoplasms, Nephrogenic Fibrosing Dermopathy, Nephrotic Syndrome, Neurodegenerative disorder, Neutrophilia, Niemann-Pick Disease, Nodular Fasciitis, Non-Alcoholic Fatty Liver Disease, Obesity, Oestrogen Receptor Positive Breast Cancer, Open angle glaucoma, Oral Submucous Fibrosis, Osteoarthritis, Osteoarthritis Of Hip, Osteochondrodysplasia, Osteogenesis Imperfecta, Osteogenesis imperfecta-Ehlers-Danlos Combined Syndrome, Osteonecrosis, Osteosarcoma, Osteosclerosis, Otosclerosis, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatitis, Papillary Craniopharyngioma, Papillary thyroid cancer, Papillary thyroid carcinoma, Parkinson disease, Pelvic Organ Prolapse, Periapical Periodontitis, Periodontitis, Peritoneal fibrosis, Pigmented Dermatofibrosarcoma Protuberans, Pilomyxoid Astrocytoma, Pituitary dwarfism, Platelet Glycoprotein IV Deficiency, Platybasia, Postnatal asphyxia, Precocious puberty, Premature osteoarthritis, Proptosis, Prostate adenocarcinoma, Prostate cancer, Prostatic neoplasm, Psoriatic Arthritis, Ptosis, Pulmonary arterial hypertension, Pulmonary Fibrosis, Renal Carcinoma, Renal cell carcinoma, Retinal Detachment, Rheumatoid arthritis, Rieger syndrome, Russell-Silver Syndrome, Sarcoidosis, Sarcoma, Scleroderma, Sclerosteosis, Scoliosis, Severe combined immunodeficiency, Shagreen patch, Sick sinus syndrome, Skeletal Dysplasia, Skin Neoplasms, Small cell lung carcinoma, Spina bifida occulta, Spondylocostal dysostosis, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Syringomyelia, Systemic sclerosis, Tendinopathy, Thoracic aortic aneurysm, Thoracic Aortic Aneurysm And Aortic Dissection, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Trichodentoosseous syndrome, Trichohepatoenteric Syndrome, Tricuspid Valve Prolapse, Triple negative breast cancer, Tumoral Calcinosis, Urinary bladder neoplasms, Urticaria, Uterine Fibroids, Uterine neoplasm, Vascular calcification, Venous Insufficiency, Visual disorder, Werner syndrome
|
2505
|
|
|
Collagen type I alpha 2 chain |
EDSARTH2, EDSCV, OI4 |
Curated: Astrocytoma, Bone fragility with contractures, arterial rupture, and deafness, Breast cancer, Bruck syndrome, Cardiac valvular dysplasia, Ehlers-danlos syndrome, Osteogenesis imperfecta, Combined osteogenesis imperfecta and ehlers-danlos syndrome , Congenital heart disease, Connective tissue disease, Dementia, Dentinogenesis imperfecta, Desbuquois syndrome, Global developmental delay, Heart valve disease, Heart valve prolapse, Insomnia, Intracranial aneurysm, Liver cirrhosis, Obesity, Oral submucous fibrosis, Osteoarthritis, Osteoporosis, Osteoporosis-pseudoglioma syndrome, Prostate cancer, Scleroderma, Skeletal dysplasia, Strabismus, Systemic sclerosis, Ventricular septal defect, ehlers-danlos syndrome, cardiac valvular type, COL1A2-related Ehlers-Danlos syndrome, COL1A2-related osteogenesis imperfecta
Unreviewed: Achondrogenesis, Adenocarcinoma, Adenoma, Alzheimer disease, Amelogenesis imperfecta, Aneurysm, Anodontia, Aortic Aneurysm, Aortic valve disease, Aortic Valve Insufficiency, Aphasia, Arachnoid cyst, Arteriosclerosis, Arthritis, Arthrochalasia Ehlers-Danlos syndrome, Atherosclerosis, Atrial Fibrillation, Avascular Necrosis Of The Capital Femoral Epiphysis, Basal cell carcinoma, Biliary atresia, Bladder carcinoma, Bladder Neoplasm, Bone disease, Brachydactyly, Breast neoplasm, Calcinosis, Carcinogenesis, Carcinoma Of The Head And Neck, Cardiac valvular disease, Cardiacvalvular Ehlers-Danlos Syndrome, Carotid artery stenosis, Central Visual Impairment, Cerebral Aneurysm, Chondrosarcoma, Chronic disease, Chronic Obstructive Pulmonary Disease, Cirrhosis, Classical-Like Ehlers-Danlos Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital contracture, Congenital Epicanthus, Congenital genu recurvatum, Congenital Pectus Excavatum, Congestive Heart Failure, Connective Tissue Disease, Coronary artery disease, Cortical Congenital Hyperostosis, Cystic Fibrosis, Dentin dysplasia, Dentinogenesis Imperfecta, Dermatosparaxis Ehlers-Danlos Syndrome, Developmental delay, Diabetes Mellitus, Diabetic Nephropathy, Diabetic neuropathy, Diabetic retinopathy, Diaphyseal dysplasia, Dilated cardiomyopathy, Drachtman Weinblatt Sitarz syndrome, Dupuytren contracture, Dwarfism, Dysmorphic Features, Dysphasia, Ehlers-Danlos Syndrome, EHLERS-DANLOS/OSTEOGENESIS IMPERFECTA CROSSOVER SYNDROME, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Exudative Macular Degeneration, Fibrosarcoma, Frontal bossing, Gastritis, Gastroesophageal reflux disease, Gastrointestinal carcinoma, Gastrointestinal Diseases, Gastrointestinal neoplasm, Glioblastoma, Glioma, Glomerulonephritis, Glomerulosclerosis, Glycogen Storage Disease, Growth disorder, Head and neck cancer, Head And Neck Carcinoma, Hearing loss, Heart Diseases, Hemorrhage, Hepatocellular carcinoma, Hereditary pyropoikilocytosis, Hernia, Femoral, High Bone Mass Osteogenesis Imperfecta, Hydrocephalus, Hydrops Fetalis, Hypertension, Hypertrophic cardiomyopathy, Hypochondrogenesis, Hypodontia, Hypophosphatasia, Idiopathic pulmonary fibrosis, Intellectual developmental disorder, Intervertebral disc disease, Intestinal disease, Intracranial Aneurysm, Ischemic stroke, Left Ventricular Hypertrophy, Legg-Calve-Perthes Disease, Lipoblastoma, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Lobstein Disease, Lung adenocarcinoma, Lung carcinoma, Lung neoplasms, Lupus nephritis, Lymphoma, Macular degeneration, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Medulloblastoma, Melanoma, Meningioma, Micrognathism, Miscarriage, Mitral Valve Prolapse, Mouth disease, Mouth neoplasm, Multiple Congenital Anomalies, Myeloproliferative disorder, Myocardial Infarction, Myopia, Neoplasms, Neuroblastoma, Neuroectodermal Tumors, Oral Submucous Fibrosis, Osteoarthrosis Deformans, Osteogenesis Imperfecta, Osteopenia, Osteosarcoma, Otosclerosis, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Pena Shokeir syndrome, Pituitary dwarfism, Platybasia, Prostatic neoplasm, Proteinuria, Pterygium, Pulmonary arterial hypertension, Pulmonary Fibrosis, Rheumatoid arthritis, Sarcoidosis, Sarcoma, Scoliosis, Sick Sinus Syndrome, Skeletal Dysplasia, Skin disease, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Stroke, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracic disease, Trichohepatoenteric Syndrome, Triple negative breast cancer, Urinary bladder cancer, Urinary bladder neoplasms, Venous Insufficiency
|