2491
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Collagen type XI alpha 2 chain |
DFNA13, DFNB53, FBCG2, HKE5, OSMEDA, OSMEDB, PARP, STL3 |
Curated: Asthma, Isolated sensorineural deafness, Nonsyndromic hearing loss, Otospondylomegaepiphyseal dysplasia, Carpal tunnel syndrome, Cartilage disease, Celiac disease, Interstitial cystitis, Cleft palate, Conductive hearing loss, Congenital cartilage disorder, Congenital ear anomaly, Congenital heart defects, Connective tissue disease, Craniofacial abnormalities, Deafness, Desbuquois syndrome, Down syndrome, Hearing loss, Hereditary hearing loss, Hypothyroidism, Inflammatory bowel disease, Intellectual developmental disorder, Congenital anomaly of limb, Lung cancer, Marshall syndrome, Multiple sclerosis, Osteoarthritis, Osteochondrodysplasias, Peptic ulcer disease, Psoriasis, Rheumatoid arthritis, Squamous cell carcinoma, Stickler syndrome, Diabetes mellitus type 1, nonsyndromic genetic hearing loss
Unreviewed: Adrenal Gland Pheochromocytoma, Alzheimer disease, Amyloidosis, Amyotrophic Lateral Sclerosis, Androgen-Insensitivity Syndrome, Anemia, Aortic valve disease, Arthritis, Ataxia telangiectasia, Atelosteogenesis, Attention Deficit Hyperactivity Disorder, B-Cell Lymphoma, Benign Pemphigus, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Burkitt lymphoma, Carcinoma, Carcinoma Of The Head And Neck, Cartilage Diseases, Cerebral Infarction, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholangiocarcinoma, Chondromalacia, Chondrosarcoma, Chordoma, Chromosomal instability, Chronobiology disorder, Cognitive disorder, Colitis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Comedone, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Congenital omphalocele, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Congestive Heart Failure, Connective Tissue Disease, Coronary artery disease, Coronary Heart Disease, Crohn Disease, Developmental delay, Developmental dysplasia of the hip, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic Retinopathy, Disorder Of Eye, Dwarfism, Dysmorphic Features, Embryonal Rhabdomyosarcoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Epiphyseal dysplasia, Epithelial ovarian carcinoma, Erythroblastic Leukemia, Esophageal Carcinoma, Esophagus Neoplasm, Ewing sarcoma, Fanconi Anemia, Fibrochondrogenesis, Gallbladder neoplasm, Gastrointestinal Diseases, Glioblastoma, Glioma, Glossoptosis, Head and neck cancer, Head And Neck Carcinoma, Hearing Loss, Heart Diseases, Heart Failure, Hematopoietic Neoplasms, Hereditary Breast And Ovarian Cancer Syndrome, Hereditary cancer, Hodgkin Disease, Huntington Disease, Hypoparathyroidism-deafness-renal disease syndrome, Hypoxia, Ichthyosis, Immunologic Deficiency Syndromes, Intervertebral Disc Degeneration, Intervertebral disc disease, Iron Overload, Kawasaki disease, Kidney Disease, Kidney Failure, Knee osteoarthritis, Left Ventricular Hypertrophy, Leukemia, Lichen amyloidosis, Lip and Oral Cavity Carcinoma, liposarcoma, Liver carcinoma, Liver failure, Liver Fibrosis, Liver neoplasms, Low-frequency hearing loss, Lung Cancer, Lung carcinoma, Lung Neoplasms, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative syndrome, Lynch Syndrome, Malignant hyperthermia, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Mandibulofacial Dysostosis, Mantle Cell Lymphoma, Marinesco-Sjogren Syndrome, Megaepiphyseal Dwarfism, Melanoma, Memory Disorders, Merkel cell carcinoma, Mesothelioma, Metabolic Diseases, Metabolic Syndrome, Metastatic Prostate Carcinoma, Micrognathism, Micromelia, Microstomia, Mitochondrial disease, Mitral Valve Stenosis, MOHR-TRANEBJAERG SYNDROME, Mouth neoplasm, Multiple Congenital Anomalies, Multiple myeloma, Multiple Sclerosis, Multiple Trichoepithelioma, Myelodysplastic syndrome, Myeloid leukemia, Myelomonocytic Leukemia, Myeloproliferative disorder, Myopia, Nasopharyngeal Carcinoma, Necrosis, Neoplasms, Nephroblastoma, Neuroblastoma, Neurodegenerative Disorders, Neurosensory Hearing impairment, Nijmegen Breakage Syndrome, Non-Syndromic Sensorineural Deafness, Nonsyndromic Deafness, Obesity, Oestrogen Receptor Positive Breast Cancer, Orofacial cleft, Osteoarthritis Of Hip, Osteochondrodysplasia, Osteosarcoma, Otospondylomegaepiphyseal Dysplasia, Ovalocytosis, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pachyonychia Congenita, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Panniculitis, Paraganglioma, Parkinson disease, Patent ductus arteriosus, Peritoneal Carcinoma, Persistent Hyperplastic Primary Vitreous, Pheochromocytoma, Pierre-Robin Syndrome, Plagiocephaly, Premature osteoarthritis, Proptosis, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Prune belly syndrome, Pulmonary arterial hypertension, Pulmonary Fibrosis, Rectal Carcinoma, Renal Carcinoma, Renal fibrosis, Retinal Diseases, Rhabdomyosarcoma, Rhizomelia, Sarcoma, Short femur, Small cell lung carcinoma, Spondyloepimetaphyseal dysplasia, Stargardt disease, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stroke, Submucous cleft of soft and hard palate, Syndromic microphthalmia, Thoracic hypoplasia, Thymoma, Thyroid cancer, Thyroid Carcinoma, Thyroid Neoplasm, Transposition Of Great Vessels, Triple negative breast cancer, Triple Negative Breast Neoplasms, Uranostaphyloschisis, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Uterine polyp, Uveal Melanoma, Ventricular septal defect, Warsaw Breakage Syndrome
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2492
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Collagen type XI alpha 2 pseudogene 1 |
COL11A2P, cD0826Q1.1 |
Curated: N/A
Unreviewed: Cervical Cancer, Cervix carcinoma, Coronary Heart Disease, Diabetes Mellitus, Rheumatoid arthritis, Sjogren`s Syndrome
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2493
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Collagen type XII alpha 1 chain |
BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2 |
Curated: Alzheimer disease, Asthma, Bethlem myopathy, Cataract, Central nervous system cancer, Color vision deficiency, Dementia, Ehlers-danlos syndrome, Endometriosis, Glioblastoma, Glioma, Global developmental delay, Hereditary motor and sensory neuropathies, Keratoconus, Melanoma, Mesothelioma, Neurodevelopmental disorder, Orofacial cleft, Hypertension, Ullrich congenital muscular dystrophy
Unreviewed: Acquired Kyphoscoliosis, Amyotrophy, Bethlem Myopathy, Bone neoplasm, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cholangiocarcinoma, Chondromyxoid Fibroma, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital kyphoscoliosis, Congenital muscular dystrophy, Congenital myopathy, Connective tissue disease, Distal myopathy, Ehlers-Danlos Syndrome, Elbow flexion contracture, Esotropia, Exanthema, Facial paralysis, Graves ophthalmopathy, High palate, Hypotonia, Kidney neoplasm, Leukemia, Lung Cancer, Lymphoma, Malignant Mesothelioma, Malignant Neoplasm, Microcephaly, Epilepsy, And Diabetes Syndrome, Micrognathism, Motor delay, Muscular dystrophy, Myopathic Ehlers-Danlos Syndrome, Myopathy, Myotonia congenita, Neoplasms, Obesity, Pancreatic ductal carcinoma, Pancreatic neoplasm, Phrynoderma, Prostate cancer, Prostatic neoplasm, Respiratory Failure, Rheumatoid arthritis, Scoliosis, Stomach Carcinoma, Stomach Neoplasms, Ullrich Congenital Muscular Dystrophy, Uterine neoplasm
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2494
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Collagen type XIII alpha 1 chain |
CMS19, COLXIIIA1 |
Curated: Liver cirrhosis, Presynaptic congenital myasthenic syndrome, Congenital myasthenic syndrome, Endometriosis, Migraine, Myasthenic syndrome, Nonalcoholic fatty liver disease, Parkinson disease, Postsynaptic congenital myasthenic syndrome, Scoliosis, Sialolithiasis, Ulcerative colitis
Unreviewed: Acquired Kyphoscoliosis, Arthritis, Arthrogryposis multiplex congenita, Bladder carcinoma, Bladder Neoplasm, Bulbar palsy, Congenital kyphoscoliosis, Congenital Pectus Carinatum, Developmental delay, Developmental dysplasia of the hip, Distal amyotrophy, Dysphagia, Esotropia, Facial paralysis, Fatty liver, alcoholic, Gastroesophageal Reflux Disease, Hearing Loss, High palate, Lambert-Eaton Myasthenic Syndrome, Liver Cirrhosis, Malignant Neoplasm, Mental retardation, Micrognathism, Miscarriage, Motor delay, Myasthenia Gravis, Myasthenic Syndrome, Myocardial Infarction, Non-Alcoholic Fatty Liver Disease, Nystagmus, Osteoarthritis, Osteosarcoma, Papillary thyroid cancer, Polyneuropathy, Ptosis, Respiratory Failure, Scleroderma, Sleep Apnea, Squamous cell carcinoma, Sudden episodic apnea, Urinary bladder cancer, Urinary bladder neoplasms
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2495
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Collagen type XIV alpha 1 chain |
UND |
Curated: Breast cancer, Gastritis, Keratosis palmoplantaris papulosa
Unreviewed: Adenocarcinoma, Alzheimer disease, Arthritis, Bladder carcinoma, Breast Carcinoma, Breast neoplasm, Colonic Neoplasms, Coronary artery disease, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Esophageal squamous cell carcinoma, Gallbladder neoplasm, Hodgkin Disease, Keratosis Palmoplantaris Papulosa, Myeloid leukemia, Narcolepsy, Neoplasms, Osteoarthritis, Osteoporosis, Ovarian neoplasm, Palmoplantar keratoderma, Pancreatic Neoplasm, Pelvic Organ Prolapse, Poikiloderma With Neutropenia, Polycystic kidney disease, Pulmonary hypertension, Punctate Palmoplantar Keratoderma, Renal Carcinoma, Renal cell carcinoma, Squamous cell carcinoma
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2496
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Collagen type XV alpha 1 chain |
- |
Curated: Asthma, Bone fracture, Hepatocellular carcinoma, Ovarian epithelial cancer, Ovarian cancer, Prostatic neoplasms, Respiratory system disease
Unreviewed: Alveolar capillary dysplasia, Anaplastic Lymphoma, Arteriosclerosis, Arthritis, Atherosclerosis, Atrial fibrillation, Basal Laminar Drusen, Breast Cancer, Breast Carcinoma, Chronic obstructive pulmonary disease, Eczema, Epithelial ovarian carcinoma, Glaucoma, Hodgkin Disease, Hypercholesterolemia, Idiopathic pulmonary fibrosis, Leukemia, Liver carcinoma, Lung disease, Macular degeneration, Neoplasms, Neuromuscular Diseases, Osteoarthritis, Ovarian Epithelial carcinoma, Prostate cancer, Prostatic Neoplasms, Renal Carcinoma, Renal cell carcinoma, Sarcopenia, Smith-McCort Dysplasia, Thoracic aortic aneurysm
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2497
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COL15A1 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
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2498
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|
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Collagen type XVI alpha 1 chain |
447AA, FP1572 |
Curated: Asthma, Attention deficit hyperactivity disorder, Glaucoma, Insomnia, Open angle glaucoma, Substance abuse, Thoracic aortic aneurysm
Unreviewed: Dilated cardiomyopathy, Glioblastoma, Obesity, Ovarian neoplasm, Papillary thyroid cancer
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2499
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Collagen type XVII alpha 1 chain |
BA16H23.2, BP180, BPA-2, BPAG2, ERED, JEB4, LAD-1 |
Curated: Amelogenesis imperfecta, Corneal dystrophy, Junctional epidermolysis bullosa, Other epidermolysis bullosa, Myopia, Uterine fibroid
Unreviewed: Actinic keratosis, Adenocarcinoma, Alopecia, Male Pattern, Androgenetic Alopecia, Anemia, Anodontia, Anonychia, Anophthalmia, Aortic Valve Insufficiency, Aplasia Cutis Congenita, Atopic dermatitis, Autoimmune disease, Autoimmune Diseases, Barrett esophagus, Basal cell carcinoma, Benign mucous membrane pemphigoid, Biliary Cirrhosis, Blister, Breast neoplasm, Bullous Pemphigoid, Carcinoma, Cardiovascular disease, Colorectal neoplasm, Congenital Leukocyte Adherence Deficiency, Congenital Nonbullous Ichthyosiform Erythroderma, Congenital pyloric atresia, Corneal Dystrophy, Corneal erosion, Craniosynostosis, Dental Enamel Hypoplasia, Dermatitis, Dermatologic Disorders, Diabetes Mellitus, Diabetes mellitus, type 2, Duchenne muscular dystrophy, Dystonia, Dystrophic epidermolysis bullosa, Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, Epilepsy, Epithelial Erosion Dystrophy, Erosion Of Cornea, Excessive Tearing, Frontotemporal dementia, Glioblastoma, Hereditary cutaneous melanoma, Hyperhidrosis Palmaris Et Plantaris, Hypertension, Hypodontia, immunodeficiency, Impaired Cognition, Junctional Epidermolysis Bullosa, Laryngo-onycho-cutaneous syndrome, Leukocyte adhesion deficiency, Lung carcinoma, Lymphatic metastasis, Malignant Neoplasm, Melanoma, Mixed connective tissue disease, Motor Neuron Disease, Mucous membrane pemphigoid, Multiple Sclerosis, Nail Diseases, Nail dysplasia, Nail dystrophy, Nasal polyp, Nasopharyngeal Carcinoma, Neurodegenerative Disorders, Palmoplantar keratoderma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Parkinson disease, Pemphigus, Pemphigus Vulgaris, Periodontitis, Pyoderma Gangrenosum, Sinusitis, Skin carcinoma, Skin disease, Skin Erosion, Skin Lesion, Squamous cell carcinoma, Stomach neoplasms, Stroke, Thiel-Behnke Corneal Dystrophy, Tooth abnormalities, Triple negative breast cancer, Urticaria, Uterine neoplasm
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2500
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Collagen type XVIII alpha 1 chain |
GLCC, KNO, KNO1, KS |
Curated: Alzheimer disease, Calcinosis, Cataract, Cervical cancer, Fuchs endothelial dystrophy, Glaucoma, Heart valve disease, Heart valve prolapse, Hemangiosarcoma, Intellectual developmental disorder, Knobloch syndrome, Macular dystrophy, Nystagmus, Primary angle closure glaucoma, Retinitis pigmentosa, Myopia
Unreviewed: Adenocarcinoma, Adenoma, Adrenocortical carcinoma, Age-related macular degeneration, Alopecia, Aortic Aneurysm, Arteriosclerosis, Arthritis, Astrocytoma, Atherosclerosis, Atopic dermatitis, Atrophy, Bladder carcinoma, Bladder Neoplasm, Blood Coagulation Disorders, Brain malformation, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, CADASIL Syndrome, Capillary infantile hemangioma, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiac valvular disease, Cardiovascular Diseases, Carotid Atherosclerosis, Cerebellar atrophy, Cerebral amyloid angiopathy, Cerebral arteriovenous malformation, Cerebral Atrophy, Cholangiocarcinoma, Cholesteatoma, Cirrhosis, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Arteriovenous Malformation, Congenital Cerebral Hernia, Congenital Epicanthus, Congestive Heart Failure, Corneal Dystrophy, Corneal Neovascularization, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Dextrocardia, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Nephropathy, Diabetic Retinopathy, Diastrophic dysplasia, Down Syndrome, Ectopia Lentis, Encephalocele, Endometriosis, Epilepsy, Epithelial ovarian carcinoma, Esophagus Neoplasm, Exfoliation Syndrome, Fibromatosis, Follicular Thyroid Carcinoma, Gallbladder cancer, Gastric Cancer, Giant Cell Arteritis, Glioblastoma, Glioma, Glomerulonephritis, Glycogen Storage Disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Heart Failure, Hemangioma, Hemihyperplasia, Hepatitis b, Hepatocellular carcinoma, Hydrocephalus, Hypertension, Hypertrophic cardiomyopathy, Iga nephropathy, Immunologic Deficiency Syndromes, Irritable Bowel Syndrome, Ischemic Stroke, Kaposi Sarcoma, Kidney Cancer, Kidney Disease, Kidney Failure, Kidney Neoplasm, Knobloch Syndrome, Leukemia, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Lupus Erythematosus, Lymphangioma, Lymphangiomyomatosis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoid leukemia, Macular Degeneration, Malignant Neoplasm, Mammary Neoplasms, Medulloblastoma, Melanoma, Mental retardation, Merkel cell carcinoma, Metastatic Melanoma, Multiple myeloma, Multiple polyposis syndrome, Myeloid Leukemia, Myeloproliferative Disorder with Eosinophilia, Myocardial Infarction, Myocardial Ischemia, Myotonic dystrophy, Nasal polyposis, Nasopharyngeal Carcinoma, Navajo neurohepatopathy, Neoplasms, Nervous System Disorder, Neuroblastoma, Obesity, Occipital Encephalocele, Odontogenic Tumor, Oestrogen Receptor Positive Breast Cancer, Open angle glaucoma, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic Neoplasm, Parkinson disease, Patent ductus arteriosus, Pelvic Organ Prolapse, Peritoneal Carcinomatosis, Persistent Hyperplastic Primary Vitreous, Phthisis bulbi, Pleural effusion, Polymicrogyria, Proptosis, Prostate adenocarcinoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Pulmonary arterial hypertension, Pulmonary Fibrosis, Pulmonary hypertension, Renal Carcinoma, Renal cell carcinoma, Retinal Detachment, Retinal Dystrophy, Retinitis Pigmentosa, Retinoblastoma, Retinopathy, Rheumatoid arthritis, Sarcoma, Scleroderma, Septicemia, Severe combined immunodeficiency disease, Sickle cell anemia, Sleep Apnea, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stroke, Symmetrical Dyschromatosis Of Extremities, Systemic sclerosis, T-Cell Lymphoma, Takayasu Arteritis, Thoracic Aortic Aneurysm And Aortic Dissection, Thyroid Neoplasm, Trichohepatoenteric Syndrome, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Tuberous sclerosis complex, Tumoral Calcinosis, Ulcerative colitis, Uremia, Urinary bladder cancer, Uterine disease, Vascular Diseases, Vasculitis, Ventricular dysfunction, Vesicoureteral Reflux, Vitelliform Macular Dystrophy, Vitreoretinal degeneration
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