5611
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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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5612
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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, Myosclerosis, congenital
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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5613
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COL6A2 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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5614
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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, Peters anomaly
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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5615
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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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5616
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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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5617
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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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5618
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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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5619
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Collagen type VII alpha 1 chain |
EBD1, EBDCT, EBR1, NDNC8 |
Curated: Dystrophic epidermolysis bullosa, Amelogenesis imperfecta, Anonychia, Breast neoplasms, Non-small cell lung carcinoma, Colorectal neoplasms, Dominant dystrophic epidermolysis bullosa with absence of skin, Dominant dystrophic epidermolysis bullosa, albopapular type, Duane retraction syndrome, Nail dystrophy, Epidermal nevus, Epidermolysis bullosa, Junctional epidermolysis bullosa, Gout, Hallopeau siemens disease, Ichthyosis, Syndactyly, Inflammatory bowel disease, Transient bullous dermolysis of the newborn, Epidermolysis bullosa, pretibial (ar,ad), Epidermolysis bullosa dystrophica inversa, autosomal recessive, Epidermolysis bullosa dystrophica, bart type, autosomal dominant, Epidermolysis bullosa dystrophica, autosomal recessive, Epidermolysis bullosa dystrophica, autosomal dominant, Nail disorder, non-syndromic congenital, 8
Unreviewed: Acral Dystrophic Epidermolysis Bullosa, Adenoid cystic carcinoma, Alopecia, Amyloidosis, Anemia, Ankyloglossia, Aortic valve disease, Aortic Valve Insufficiency, Aplasia Cutis Congenita, Aplastic anemia, Blister, Boerhaave Syndrome, Breast Cancer, Breast Carcinoma, Carcinoma, Cardiomyopathy, Cataract, Centripetalis Dystrophic Epidermolysis Bullosa, Cheilitis, Cockayne-Touraine Disease, Colorectal Cancer, Colorectal Neoplasms, Complement Component Deficiency, Congenital localized absence of skin, Conjunctivitis, Corneal erosion, Crohn Disease, Dental Enamel Hypoplasia, Dermatologic Disorders, Down Syndrome, Duchenne muscular dystrophy, Dysmorphic Features, Dysphagia, DYSTROPHIC EPIDERMOLYSIS BULLOSA, Ectropion, Epidermolysis Bullosa, Epidermolysis Bullosa Dystrophica Inversa, Epidermolysis Bullosa Pruriginosa, Epidermolysis Bullosa Simplex With Nail Dystrophy, Esophageal Stricture, Esophagus Neoplasm, Factor vii deficiency, Gallbladder neoplasm, Generalized dominant dystrophic epidermolysis bullosa, Genetic predisposition to disease, Hyperkeratosis, Hyperkeratosis, Epidermolytic, Hypoalbuminemia, Hypoxia, Ichthyosis Vulgaris, Idiopathic pulmonary fibrosis, Inguinal Hernia, Junctional Epidermolysis Bullosa, Keratitis, Kidney Disease, Larsen Syndrome, Laryngeal carcinoma, Laryngeal neoplasm, Larynx cancer, Lung carcinoma, Malignant Neoplasm, Malnutrition, Mammary Neoplasms, Marfan Syndrome, Melanoma, Microglossia, Microstomia, Nail Diseases, Nail dysplasia, Neoplasms, Nonsyndromic congenital nail disorder, Osteogenesis imperfecta, Osteopenia, Osteoporosis, Poikiloderma Of Kindler, Renal cell carcinoma, Renal Insufficiency, Sarcoglycanopathies, Skin cancer, Skin carcinoma, Skin disease, Skin Erosion, Skin neoplasm, Spherocytosis, Squamous cell carcinoma, Stenosis Of External Auditory Canal, Stomach neoplasms, Syndactyly of fingers, Syndactyly Of The Toes, Urinary bladder neoplasms, Ventricular fibrillation, Vesicular Stomatitis
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5620
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Collagen type VIII alpha 1 chain |
C3orf7 |
Curated: Atrophic macular degeneration, Breast cancer, Kidney disease, Obstructive pulmonary disease, Congenital abnormalities, Glaucoma, Heart failure, Open angle glaucoma, Age-related macular degeneration
Unreviewed: Adenocarcinoma Of Colon, Atopic dermatitis, Breast Carcinoma, Choroidal neovascularization, Cleft lip, Cleft palate, Congenital Keratoglobus, Corneal Dystrophy, Corneal neovascularization, Diabetes Mellitus, Diabetic Nephropathy, Diabetic neuropathy, Dilated cardiomyopathy, Drusen, Exudative Macular Degeneration, Fuchs Endothelial Dystrophy, Geographic Atrophy, Glioblastoma, Glioma, Glomerulosclerosis, Glycogen Storage Disease, Heart Failure, Hepatocellular carcinoma, Hypertension, Keratoconus, Laryngeal neoplasm, Lupus nephritis, Macular degeneration, Myopia, Papillary thyroid cancer, Psoriasis, Psoriatic arthritis, Retinal Diseases, Squamous cell carcinoma, Stomach neoplasms, Tourette Syndrome, Urinary bladder neoplasms, Ventricular dysfunction, Ventricular remodeling
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