2531
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Collagen type V alpha 2 chain |
EDSC, EDSCL2 |
Curated: Breast cancer, Ehlers-danlos syndrome, Connective tissue disease, Thoracic aortic aneurysm and aortic dissection, Hemorrhoid, Keratoconus, Liver cirrhosis, Loeys-dietz syndrome, Marfan syndrome, Neuropathic spinal arthropathy, Osteoarthritis, Osteogenesis imperfecta, Parkinson disease, Thrombocytopenia, ehlers-danlos syndrome, classic type
Unreviewed: Aneurysm, Aortic Aneurysm, Aortic dissection, Arachnodactyly, Arthritis, Asthma, Atrial Septal Defect, Atrophy, Autism, Autoimmune Lymphoproliferative Disorder, Bladder carcinoma, Bladder Neoplasm, Blood Coagulation Disorders, Brain neoplasms, Breast neoplasm, Carcinogenesis, Cardiomyopathy, Cardiovascular Diseases, Classical-Like Ehlers-Danlos Syndrome, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Congenital Epicanthus, Congenital Exomphalos, Congenital Keratoglobus, Congenital Pectus Carinatum, Connective Tissue Disease, Constipation, Corneal Dystrophy, Diabetic foot, Dissecting Aortic Aneurysm, Ductal carcinoma, Dwarfism, Ectopia Lentis, Eczema, Ehlers-Danlos Syndrome, Endometrial neoplasm, Esophageal squamous cell carcinoma, Gastric Cancer, Gestational diabetes, Glaucoma, Hemochromatosis, Hemorrhage, Hemorrhagic disease, Hiatal Hernia, Hypertension, Hypoxia, Idiopathic pulmonary fibrosis, Impaired Cognition, Intellectual developmental disorder, Intervertebral disc disease, Intracranial aneurysm, Leiomyoma, Liver Cirrhosis, Liver Fibrosis, Lymphatic metastasis, Malignant Neoplasm, Mesothelioma, Metabolic Syndrome, Microcornea, Microdontia, Migraine, Miscarriage, Mitral Valve Prolapse, Mouth neoplasm, Multisystemic Smooth Muscle Dysfunction Syndrome, Myocardial Infarction, Myocardial Ischemia, Myopia, Neoplasms, Neuroblastoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Pheochromocytoma, Prostatic neoplasm, Pulmonary fibrosis, Pulmonary hypertension, Retinal Detachment, Rheumatoid arthritis, Scleroderma, Scoliosis, Shagreen patch, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Thoracic Aortic Aneurysm And Aortic Dissection, Tongue carcinoma, Tricuspid Valve Prolapse, Urinary bladder cancer, Urinary bladder neoplasms, Urticaria, Venous Insufficiency, Vertebral Artery Dissection
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2532
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Collagen type V alpha 3 chain |
- |
Curated: Keratoconus, Prostatic neoplasms
Unreviewed: Breast neoplasm, Eczema, Ehlers-Danlos Syndrome, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Urinary bladder neoplasms
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2533
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Collagen type VI alpha 1 chain |
BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A |
Curated: Bethlem myopathy, Collagen vi-related myopathy, Diverticular disease, Heart failure, Collagen vi muscular dystrophy, Keratoconus, Lung neoplasms, Muscular dystrophy, Myopathy, Ullrich congenital muscular dystrophy, collagen 6-related myopathy
Unreviewed: Amyotrophy, Asthma, Astrocytoma, Atrioventricular septal defect, Autism, Bethlem Myopathy, Biliary atresia, Breast neoplasm, Bundle branch block, Carcinogenesis, Cardiovascular Abnormalities, Cholestasis, Chronic Obstructive Pulmonary Disease, Congenital Clubfoot, Congenital heart defects, Congenital muscular dystrophy, Congenital Pectus Carinatum, Congenital Torticollis, Corneal Diseases, Corneal dystrophy, Coronary Heart Disease, Crohn disease, Cryptorchidism, Dermatomyositis, Developmental Delay, Diverticular Diseases, Down Syndrome, Elbow flexion contracture, Esotropia, Facial paralysis, Flexion Contracture Of Hip, Flexion Contracture Of Wrist, Fuchs endothelial dystrophy, Glioblastoma, Heart Failure, Hematuria, High palate, Hirschsprung Disease, Hyperostosis, Hypospadias, Hypotonia, Idiopathic pulmonary fibrosis, Keratosis pilaris, Limb-Girdle Muscular Dystrophy, Lung Cancer, Lung disease, Lung Neoplasms, Micrognathism, Miscarriage, Motor delay, Myasthenia gravis, Myopia, Myosclerosis, Neoplasms, Neurogenic Urinary Bladder, Neuromuscular disease, Obesity, Ossification Of The Posterior Longitudinal Ligament Of Spine, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Phrynoderma, Prostate cancer, Prostatic neoplasm, Respiratory Failure, Rheumatoid arthritis, Rigid spine muscular dystrophy, Scoliosis, Sensorimotor neuropathy, Sleep Apnea, Specific language disorder, Squamous cell carcinoma, Trichothiodystrophy, Ulcerative colitis, Ullrich Congenital Muscular Dystrophy, Urinary bladder neoplasms, Uterine disease
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2534
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Collagen type VI alpha 2 chain |
BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B |
Curated: Bethlem myopathy, Collagen vi-related myopathy, Congenital muscular dystrophy, Diverticular disease, Collagen vi muscular dystrophy, Muscular dystrophy, Myopathy, Osteoarthritis, Ullrich congenital muscular dystrophy, collagen 6-related myopathy
Unreviewed: Amyotrophy, Arthritis, Asthma, Atrioventricular septal defect, Aural Atresia, Congenital, Bethlem Myopathy, Biliary atresia, Brain neoplasms, Breast neoplasm, Cardiovascular Abnormalities, Cerebral amyloid angiopathy, Chronic Obstructive Pulmonary Disease, Congenital Clubfoot, Congenital heart defects, Congenital Hip dislocation, Congenital Torticollis, Cortical development malformation, Dermatitis, Down Syndrome, Dwarfism, Dysmorphic Features, Eczema, Elbow flexion contracture, Endometriosis, Esotropia, Facial paralysis, Gastritis, Glioblastoma, Glycogen Storage Disease, High palate, Hirschsprung Disease, Hypotonia, Intervertebral disc disease, Keratoconus, Keratosis pilaris, Limb-Girdle Muscular Dystrophy, Liver failure, Micrognathism, Motor delay, Myoclonic epilepsy, Myosclerosis, Osteoarthrosis Deformans, Osteogenesis imperfecta, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Papillary thyroid cancer, Phrynoderma, Prostatic hyperplasia, Prostatic neoplasm, Renal cell carcinoma, Respiratory Failure, Scoliosis, Specific language disorder, Stomach neoplasms, Strabismus, Thoracolumbar scoliosis, Ullrich Congenital Muscular Dystrophy, Urinary bladder neoplasms
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2535
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COL6A2 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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2536
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Collagen type VI alpha 3 chain |
BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C |
Curated: Alzheimer disease, Asthma, Distal hereditary motor neuropathy, Bethlem myopathy, Kidney disease, Obstructive pulmonary disease, Collagen vi-related myopathy, Congenital joint contractures, Contracture of multiple joints, Coronary artery disease, Dystonia, Dystonia musculorum deformans, Genetic torsion dystonia, Hypertension, Collagen vi muscular dystrophy, Kidney failure, Lung cancer, Muscular dystrophy, Myocardial infarction, Myopathy, Open angle glaucoma, Prostate cancer, Squamous cell carcinoma, Stroke, Systemic lupus erythematosus, Ullrich congenital muscular dystrophy, Wilms tumor, dystonia 27, collagen 6-related myopathy
Unreviewed: Adamantinous Craniopharyngioma, Amyotrophy, Anaplasia, Aortic aneurysm, Bethlem Myopathy, Biliary atresia, Bladder carcinoma, Bladder Neoplasm, Breast neoplasm, Bundle branch block, Campomelic Dysplasia, Cardiovascular Abnormalities, Cardiovascular disease, Colorectal Cancer, Colorectal neoplasm, Congenital Clubfoot, Congenital Contractural Arachnodactyly, Congenital muscular dystrophy, Congenital Torticollis, Contracture, Craniometaphyseal Dysplasia, Dermatitis, Dermatofibrosarcoma, Dermatofibrosarcoma Protuberans, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic neuropathy, Distal myopathy, Down Syndrome, Duchenne muscular dystrophy, Dyslipidemias, Ectrodactyly, Eczema, Edema, Elbow flexion contracture, Emery-Dreifuss Muscular Dystrophy, Emphysema, Endometrial neoplasm, Esophageal Carcinoma, Esophagus Neoplasm, Esotropia, Facial paralysis, Gastroschisis, Giant Cell Fibroblastoma, Giant cell tumor of tendon sheath, Glioblastoma, Hereditary breast and ovarian cancer syndrome, High palate, Hypotonia, Inflammatory bowel disease, Keratoconus, Keratosis pilaris, Kidney Neoplasm, Laryngeal dystonia, Limb-Girdle Muscular Dystrophy, Liver carcinoma, Liver failure, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Malignant Neoplasm, Micrognathism, Miscarriage, Motor delay, Movement Disorders, Myosclerosis, Neoplasms, Nephroblastoma, Neuromuscular disease, Obesity, Osteoarthritis, Osteoporosis, Osteosarcoma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Parkinson disease, Patent ductus arteriosus, Phrynoderma, Prostatic neoplasm, Pulmonary fibrosis, Pulmonary hypertension, Renal Carcinoma, Renal cell carcinoma, Respiratory Failure, Scoliosis, Skin abnormalities, Specific language disorder, Stomach Carcinoma, Stomach Neoplasms, Ullrich Congenital Muscular Dystrophy, Urinary bladder cancer, Urinary bladder neoplasms, Uterine disease, Uterine neoplasm, Writer`s Cramp
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2537
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Collagen type VI alpha 4 pseudogene 1 |
COL6A4, COL6A4P, DIVA, DVWA, FAME3, VWA6 |
Curated: N/A
Unreviewed: Arthritis, Attention Deficit Hyperactivity Disorder, Congestive Heart Failure, Developmental dysplasia of the hip, Epilepsy, Head and neck neoplasm, Heart Failure, Hirschsprung Disease, Knee osteoarthritis, Miller Dieker Syndrome, Myelodysplastic Syndrome, Osteoarthritis, Septicemia
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2538
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Collagen type VI alpha 4 pseudogene 2 |
COL6A4 |
Curated: N/A
Unreviewed: Arthritis, Head and neck neoplasm, Hirschsprung Disease, Knee osteoarthritis, Lung neoplasms
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2539
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Collagen type VI alpha 5 chain |
COL29A1, VWA4 |
Curated: Kidney disease, Hypertension, Lung cancer, Squamous cell carcinoma
Unreviewed: Asthma, Atopic dermatitis, Bethlem Myopathy, Dermatitis, Diabetes mellitus, type 1, Diabetic Nephropathy, Eczema, Gingival diseases, Keratoconus, Keratosis pilaris, Kidney Disease, Leukemia, Lung neoplasms, Myocardial Infarction, Psoriasis, Psoriatic arthritis, Ullrich Congenital Muscular Dystrophy
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2540
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Collagen type VI alpha 6 chain |
- |
Curated: Congenital myopathy, Glomerulonephritis, Lung cancer, Myopathy, Squamous cell carcinoma
Unreviewed: Alzheimer disease, Atopic dermatitis, Breast neoplasm, Cone dystrophy, Dermatitis, Diabetes mellitus, type 1, Eczema, Malignant Neoplasm, Melanoma, Neoplasms, Osteoarthritis, Ovarian neoplasm, Pituitary adenoma, Prion disease, Retinitis pigmentosa, Triple negative breast cancer
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