2541
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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
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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2542
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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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2543
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Collagen type VIII alpha 2 chain |
FECD, FECD1, PPCD, PPCD2 |
Curated: Alzheimer disease, Corneal dystrophy, Fuchs endothelial dystrophy, Hereditary corneal dystrophy, Keratoconus, Open angle glaucoma, Polymorphous corneal dystrophy, Posterior polymorphous corneal dystrophy
Unreviewed: Arthritis, Atrial fibrillation, Chandler Syndrome, Congenital Hereditary Endothelial Dystrophy, Congenital Keratoglobus, Connective Tissue Disease, Corneal degeneration, Corneal Dystrophy, CORNEAL ENDOTHELIAL DYSTROPHY, Corneal guttata, Diabetic Nephropathy, Eosinophilia, Fish-Eye Disease, Fleck Corneal Dystrophy, Fuchs Endothelial Dystrophy, Glaucoma, Glomerulosclerosis, Hepatocellular carcinoma, Liver carcinoma, Lymphoma, Myocardial infarction, Osteoarthritis, Retinal Diseases
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2544
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Collagen type IX alpha 1 chain |
DJ149L1.1.2, EDM6, MED, STL4 |
Curated: Stickler syndrome, Congenital cartilage disorder, Connective tissue disease, Desbuquois syndrome, Epiphyseal dysplasia, Hearing loss, Marshall syndrome, Myopia, Optic atrophy, Osteoarthritis, Osteochondrodysplasias, Retinitis pigmentosa, Stickler syndrome, type 4
Unreviewed: alpha Thalassemia, Arthritis, Asthma, Astigmatism, Atrial Fibrillation, Bone Disease, Cardiovascular Diseases, Cartilage disease, Cataract, Cerebellar medulloblastoma, Chondrodystrophic myotonia, Clubfoot, Collagenopathy, Congenital Clubfoot, Degenerative vitreoretinopathy, Dermatitis, Diabetes Mellitus, Diabetes mellitus, type 2, Diastrophic Dysplasia, Dilated cardiomyopathy, Disorder Of Eye, Dwarfism, Dyschondroplasias, Dysplastic Nevus, Glioma, Hearing Loss, Hemoglobin H Disease, Hypercholesterolemia, Hyperlipoproteinemia, Hypertension, Hypoxia, Kashin-Beck Disease, Kidney Disease, Malignant Neoplasm, Medulloblastoma, Melnick-Needles Syndrome, Mental Depression, Metabolic Diseases, Micrognathism, Micromelia, Multiple Epiphyseal Dysplasia, Neoplasms, Nervous System Disorder, Osteoarthritis Of Hip, Osteochondrodysplasia, Osteoporosis, Osteosarcoma, Pancreatic adenocarcinoma, Pseudoachondroplasia, Retinal Detachment, Retinal Diseases, Sarcoma, Schmorl`s Nodes, Schwartz-Jampel Syndrome, Serous Retinal Detachment, Spondyloenchondrodysplasia, Spondyloepiphyseal dysplasia, Squamous cell carcinoma, Thoracic Aortic Aneurysm And Aortic Dissection, Triple Negative Breast Neoplasms, Van Buchem Disease, Vitreoretinal degeneration
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2545
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Collagen type IX alpha 2 chain |
DJ39G22.4, EDM2, MED, STL5 |
Curated: Stickler syndrome, Congenital cartilage disorder, Connective tissue disease, Desbuquois syndrome, Epiphyseal dysplasia, Intellectual developmental disorder, Intervertebral disc disease, Marshall syndrome, Meniere disease, Osteochondrodysplasias, Retinitis pigmentosa
Unreviewed: Achondroplasia, alpha Thalassemia, Arthritis, Asthma, Astigmatism, Atrial Fibrillation, Bone Disease, Cardiovascular Diseases, Cataract, Cerebellar medulloblastoma, Connective Tissue Disease, Dermatitis, Diabetes Mellitus, Diastrophic Dysplasia, Disorder Of Eye, Dowling-Degos Disease, Dwarfism, Dysplastic Nevus, Encephalocele, Glioma, Hearing Loss, Hemoglobin H Disease, Hypercholesterolemia, Hyperlipoproteinemia, Hypertension, Intervertebral Disc Degeneration, Intervertebral Disc Disorder, Kidney Disease, Knee osteoarthritis, Laurin-Sandrow syndrome, Lhermitte-Duclos disease, Lumbar Disc Disease, Medulloblastoma, Mental Depression, Metabolic Diseases, Micrognathism, Micromelia, Microscopic polyangiitis, Miscarriage, Multiple Epiphyseal Dysplasia, Myopathy, Myopia, Neoplasms, Nervous System Disorder, Obesity, Osteoarthritis Of Hip, Osteochondritis Dissecans, Osteochondrodysplasia, Osteochondrosis, Osteosarcoma, Pancreatic adenocarcinoma, Prostatic neoplasm, Pseudoachondroplasia, Retinal Detachment, Rheumatoid arthritis, Sarcoma, Sickle cell anemia, Spinal Stenosis Of Lumbar Region, Spondyloepimetaphyseal dysplasia, Thoracic Aortic Aneurysm And Aortic Dissection, Triple Negative Breast Neoplasms, Vitreoretinal degeneration
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2546
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Collagen type IX alpha 3 chain |
DJ885L7.4.1, EDM3, IDD, MED, STL6 |
Curated: Stickler syndrome, Congenital cartilage disorder, Connective tissue disease, Desbuquois syndrome, Epiphyseal dysplasia, Hearing loss, Intervertebral disc disease, Marshall syndrome, Osteochondrodysplasias, Retinal detachment, Nonsyndromic hearing loss
Unreviewed: Adrenoleukodystrophy, alpha Thalassemia, Arthritis, Asthma, Astigmatism, Atrial Fibrillation, Autism Spectrum Disorder, Autoimmune Diseases, Biliary Cirrhosis, Bipolar Disorder, Bone Disease, Cardiovascular Diseases, Cataract, Cerebellar medulloblastoma, Connective Tissue Disease, Dermatitis, Development Disorder, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diastrophic Dysplasia, Dowling-Degos Disease, Dwarfism, Dysplastic Nevus, Encephalocele, Glioma, Hearing Loss, Hemoglobin H Disease, Hypercholesterolemia, Hyperlipoproteinemia, Hypertension, Intervertebral Disc Degeneration, Intervertebral Disc Disorder, Intervertebral Disk Displacement, Kidney Disease, Lhermitte-Duclos disease, Lumbar Disc Disease, Malignant Neoplasm, Medulloblastoma, Melanoma, Mental Depression, Metabolic Diseases, Micrognathism, Micromelia, Multiple Epiphyseal Dysplasia, Multiple Epiphyseal Dysplasia With Myopathy, Myopathy, Myopia, Neoplasms, Nervous System Disorder, Neurodegenerative disorder, Neurodevelopmental Disorders, Obesity, Osteoarthritis, Osteoporosis, Osteosarcoma, Pancreatic adenocarcinoma, Pseudoachondroplasia, Retinal degeneration, Retinal Detachment, Sarcoma, Schizophrenia, Spondyloepimetaphyseal dysplasia, Squamous cell carcinoma, Triple Negative Breast Neoplasms, Vitreoretinal degeneration
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2547
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Colorectal cancer associated 1 |
C11orf92, CASC12, LOH11CR1F |
Curated: N/A
Unreviewed: Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Liver cirrhosis, Nasopharyngeal Carcinoma, Neoplasms, Ovarian neoplasm, Renal cell carcinoma
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2548
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Collectin subfamily member 10 |
3MC3, CL-10, CL-34, CLL1 |
Curated: 3mc syndrome, Asthma, Basal cell carcinoma, Bone disease, Hepatocellular carcinoma, Craniofacial ulnar renal syndrome, Juvenile idiopathic arthritis, Keratinocyte carcinoma, Malpuech facial clefting syndrome, Nasal polyp, Psoriasis, Diabetes mellitus type 1, Diabetes mellitus type 2
Unreviewed: 3MC syndrome, Accessory Nipple, B-Cell Lymphocytosis, Basal Cell Neoplasm, Blepharophimosis, Breast neoplasm, Carcinoma, Cerebrovascular disorder, Clinodactyly, Congenital Exomphalos, Craniofacial Ulnar Renal Syndrome, Craniosynostosis, Cryptorchidism, Dental caries, Diabetes mellitus, type 2, Diabetic foot, Dwarfism, Esophageal neoplasm, Hereditary breast and ovarian cancer syndrome, Hypospadias, Iron overload, Ischemic stroke, Leukemia, Liver carcinoma, Liver cirrhosis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Malignant Neoplasm, Malpuech Facial Clefting Syndrome, Mental retardation, Monoclonal Gammapathies, Multiple myeloma, Multiple sclerosis, Myelodysplastic Syndrome, Myeloid leukemia, Neoplasms, Oculopalatosekeletal syndrome, Oral cleft, Osteoarthritis, Osteoporosis, Penis Agenesis, Ptosis, Radial Polydactyly, Radioulnar Synostosis, Rheumatoid arthritis, Scoliosis, Spina bifida occulta, Waldenstrom`s Macroglobulinemia
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2549
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Collectin subfamily member 11 |
3MC2, CL-11, CL-K1-I, CL-K1-II, CL-K1-IIa, CL-K1-IIb, CLK1 |
Curated: 3mc syndrome, Carnevale syndrome, Coronary artery disease, Craniofacial abnormalities, Craniofacial ulnar renal syndrome, Desbuquois syndrome, Malpuech facial clefting syndrome, Metabolic syndrome, Oculopalatosekeletal syndrome, Diabetes mellitus type 2
Unreviewed: 3MC syndrome, Accessory Nipple, Autoimmune disease, Autoimmune nervous system disorder, Blepharophimosis, Carcinogenesis, Colorectal neoplasm, Congenital Exomphalos, Craniofacial Ulnar Renal Syndrome, Craniosynostosis, Cryptorchidism, Development Disorder, Developmental Delay, Diabetic neuropathy, Disseminated Intravascular Coagulation, Duchenne Muscular Dystrophy, Esophageal squamous cell carcinoma, Frontotemporal dementia, Glioma, Graft-versus-host disease, Hypoxia, Iga nephropathy, Incontinentia Pigmenti Achromians, Kidney Disease, Lung neoplasms, Malignant Neoplasm, Malpuech Facial Clefting Syndrome, Melanoma, Mental retardation, Neurodegenerative Disorders, Oral cleft, Parkinson disease, Pigmentation Disorders, Prostatic neoplasm, Ptosis, Radioulnar Synostosis, Scoliosis, Septicemia, Spina bifida occulta, Squamous cell carcinoma, Strabismus, Triple Negative Breast Neoplasms
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2550
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Collectin subfamily member 12 |
CLP1, NSR2, SCARA4, SRCL |
Curated: Dementia, Metabolic syndrome, Obesity, Schizophrenia, Diabetes mellitus type 2
Unreviewed: Acquired Kyphoscoliosis, Alzheimer disease, Amyotrophic lateral sclerosis, Arteriosclerosis, Ataxia telangiectasia, Atherosclerosis, Breast neoplasm, Cerebral cortical atrophy, Colorectal neoplasm, Congenital kyphoscoliosis, Cryptorchidism, Developmental Delay, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Retinopathy, Epileptic encephalopathy, Esotropia, Glioma, Glomerulonephritis, High palate, Hypoplasia Of Corpus Callosum, Iga nephropathy, Medulloblastoma, Mental retardation, Metabolic Syndrome, Microcephaly, Multiple Sclerosis, Myocardial ischemia, Myopathy, Neurodegenerative disorder, Neurodegenerative Disorders, Neuromuscular Diseases, Nystagmus, Optic Atrophy, Pontocerebellar hypoplasia, Pontoneocerebellar hypoplasia, Proptosis, Sensorimotor neuropathy, Stomach disease, Stomach neoplasms, Strabismus, Thrombosis
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