5561
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Component of oligomeric golgi complex 6 |
CDG2L, COD2, SHNS |
Curated: Asthma, Congenital disorder of glycosylation, Intellectual developmental disorder, Multiple sclerosis, Ocular sarcoidosis, Oligoarticular juvenile idiopathic arthritis, Peripheral arterial disease, Polyarticular juvenile idiopathic arthritis, Psoriasis, Respiratory system disease, Rheumatoid arthritis, Squamous cell carcinoma, Juvenile idiopathic arthritis, Systemic lupus erythematosus, Uterine fibroid, Shaheen syndrome
Unreviewed: Anemia, Anhidrosis, Arthritis, Autoimmune disease, Biliary Cirrhosis, Celiac disease, Cerebral Atrophy, Cholestasis, Cone Dystrophy, Congenital Epicanthus, Coronary artery disease, Crohn disease, Dental Enamel Hypoplasia, Development Disorder, Developmental Delay, Diabetes mellitus, type 1, Gastrointestinal Diseases, Glycogen storage disease, Graves disease, Hydrops Fetalis, Hyperbilirubinemia, Hyperkeratosis, Hypohidrosis, Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome, Immunologic Deficiency Syndromes, Juvenile arthritis, Lupus Erythematosus, Mental retardation, Microcephaly, Oligoarticular Arthritis, Palmoplantar Keratosis, Pancytopenia, Pauciarticular chronic arthritis, Plexiform leiomyoma, Psoriasis vulgaris, Pulmonary arterial hypertension, Renal cell carcinoma, Respiratory Tract Diseases, Seronegative polyarthritis, Still Disease, Uterine Fibroids
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5562
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Component of oligomeric golgi complex 7 |
CDG2E |
Curated: Congenital disorder of glycosylation
Unreviewed: Cerebellar atrophy, Cerebral Atrophy, Congenital heart defects, Congenital Nonbullous Ichthyosiform Erythroderma, Congestive Heart Failure, Developmental Delay, Dwarfism, Gastroesophageal Reflux Disease, Hydronephrosis, HYPERTRICHOSIS, Hypertrophic cardiomyopathy, Hypoglycemia, Hypoplasia Of Corpus Callosum, Microcephaly, Micrognathism, Microstomia, Nervous system disease, Neurogenic Urinary Bladder
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5563
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Component of oligomeric golgi complex 8 |
CDG2H, DOR1 |
Curated: Congenital disorder of glycosylation, Metabolic syndrome, Diabetes mellitus type 2
Unreviewed: Alternating esotropia, Alveolar Sarcoma, Arthrogryposis multiplex congenita, Brainstem Atrophy, Cerebellar atrophy, Clinodactyly, Colorectal Cancer, Colorectal neoplasm, Congenital Clubfoot, Congenital Epicanthus, Dandy-Walker Syndrome, Developmental Delay, Developmental regression, Encephalopathy, Epileptic encephalopathy, Esophageal neoplasm, Esophagus Neoplasm, Facial dysmorphism, Food Intolerance, Hematomas, Hepatocellular carcinoma, Hypoglycemia, Liver carcinoma, Lung Cancer, Mental retardation, Microcephaly, Micrognathism, Nervous system disease, Neuropathy, Protein-losing enteropathy, Renal Carcinoma, Renal cell carcinoma, Scoliosis, Status Epilepticus, Stomach Neoplasms, Xanthomatosis
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5564
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Coilin |
CLN80, p80-coilin |
Curated: N/A
Unreviewed: Amyloidosis, Anaplastic Lymphoma, Ataxia, Bone marrow diseases, Breast Cancer, Breast Carcinoma, Choriocarcinoma, Congenital Chromosomal Disease, Cyclic Neutropenia, Glioblastoma, Hereditary Motor Neuropathy, Huntington Disease, Inflammatory Myofibroblastic Tumor, Leiomyosarcoma, Leukemia, Lung carcinoma, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Lymphoproliferative Disorder, Malignant Histiocytoma, Malignant Peripheral Nerve Sheath Tumor, Melanocytic nevus, Melanoma, Mouth disease, Neoplasms, Neurodegenerative disorder, Nevus, Opitz GBBB Syndrome, X-Linked, Osteosarcoma, Papillary thyroid cancer, Polymyositis, Rectal Carcinoma, Retinoblastoma, Rhabdomyosarcoma, Sleep deprivation, Soft Tissue Neoplasms, Spinal Muscular Atrophy, Spinocerebellar Ataxia, Squamous cell carcinoma, Xeroderma pigmentosum
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5565
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Coilin pseudogene 1 |
COILP |
Curated: N/A
Unreviewed: N/A
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5566
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Coilin pseudogene 2 |
COILP-2 |
Curated: N/A
Unreviewed: N/A
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5567
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Collagen type X alpha 1 chain |
- |
Curated: Carpal tunnel syndrome, Congenital cartilage disorder, Desbuquois syndrome, Glaucoma, Macular degeneration, Metaphyseal chondrodysplasia, Osteochondrodysplasias, Schmid metaphyseal chondrodysplasia
Unreviewed: Achondroplasia, Age-related macular degeneration, Arthritis, Atopic dermatitis, Attention deficit hyperactivity disorder, Autism, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cartilage disease, Cartilage Diseases, Chondrosarcoma, Colorectal Cancer, Craniosynostosis, Developmental disability, Ductal carcinoma, Dwarfism, Epiphyseal dysplasia, Frontal bossing, Glioblastoma, Hypercalcemia, Hypertrophic cardiomyopathy, Hypertrophy, Hypoxia, Intervertebral disc disease, Intraductal noninfiltrating carcinoma, Kashin-Beck Disease, Lip and Oral Cavity Carcinoma, Lung adenocarcinoma, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Macular corneal dystrophy, Malignant Neoplasm, Malignant neoplasm of mouth, Mammary Neoplasms, Micrognathism, Mucopolysaccharidosis, Myopia, Neoplasms, Osteoarthritis, Osteoarthritis Of Hip, Osteochondrodysplasia, Pancreatic neoplasm, Papillary thyroid cancer, Pituitary dwarfism, Progressive Pseudorheumatoid Dysplasia, Prostatic neoplasm, Pseudoachondroplasia, Psoriasis, Psoriatic arthritis, Pyle Metaphyseal Dysplasia, Skeletal Dysplasia, Spondyloepimetaphyseal dysplasia, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strudwick Syndrome, Urinary bladder cancer, Urinary bladder neoplasms
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5568
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Collagen type XI alpha 1 chain |
CO11A1, COLL6, DFNA37, STL2 |
Curated: Alzheimer disease, Angle closure glaucoma, Attention deficit hyperactivity disorder, Autism, Isolated sensorineural deafness, Nonsyndromic hearing loss, Stickler syndrome, Carpal tunnel syndrome, Congenital cartilage disorder, Connective tissue disease, Craniofacial abnormalities, Deafness, Desbuquois syndrome, Peritoneal disease, Glaucoma, Hearing loss, Intervertebral disc disease, Intervertebral disc displacement, Lung cancer, Major depressive disorder, Marshall syndrome, Meniere disease, Myopia, Neurodevelopmental disorder, Open angle glaucoma, Osteoarthritis, Osteochondrodysplasias, Osteogenesis imperfecta, Ovarian cysts, Primary angle closure glaucoma, Retinitis pigmentosa, Scoliosis, Juvenile idiopathic arthritis, Hypertension, Diabetes mellitus type 2, Uranostaphyloschisis, Autosomal dominant nonsyndromic hearing loss, Fibrochondrogenesis, Deafness, autosomal dominant 37, Fibrochondrogenesis 1
Unreviewed: Achromatopsia, Adenocarcinoma, Adenocarcinoma Of Colon, Adenoma, Albinism, Amyloidosis, Androgen-Insensitivity Syndrome, Aneurysm, Angle Closure Glaucoma, Arachnodactyly, Arrhythmogenic right ventricular cardiomyopathy, Arthritis, Arthropathy, Astigmatism, Bone disease, Brachycephaly, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Calcification of falx cerebri, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiomyopathy, Carpal Tunnel Syndrome, Cataract, Chondrodystrophic myotonia, Chronic Obstructive Pulmonary Disease, Ciliopathy, Collagenopathy, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Congenital anomalies of kidney and urinary tract, Congenital Camptodactyly, Congenital Epicanthus, Congenital Keratoglobus, Congenital omphalocele, Connective Tissue Disease, Corneal opacity, Corpus Luteum Cyst, Cutis Verticis Gyrata, Disorder Of Eye, Ductal carcinoma, Dupuytren contracture, Dwarfism, Dyschondroplasias, Dysmorphic Features, Ectopia Lentis, Epiphyseal dysplasia, Epithelial ovarian carcinoma, Esophageal neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Esotropia, Eye abnormalities, Frontal bossing, Glossoptosis, Headache, Hearing Loss, Hereditary breast and ovarian cancer syndrome, High palate, Hydrops Fetalis, Hypohidrosis, Hypoplasia of the maxilla, Hypotrichosis, Intervertebral Disc Disorder, Intervertebral Disk Displacement, Intraductal noninfiltrating carcinoma, Kashin-Beck Disease, Knee osteoarthritis, Lhermitte-Duclos disease, Lumbar Disc Disease, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lynch syndrome, Malignant Neoplasm, Marshall Syndrome, Melnick-Needles Syndrome, Micrognathism, Micromelia, Microstomia, Multiple Congenital Anomalies, Multiple Epiphyseal Dysplasia, Multiple polyposis syndrome, Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome, Neoplasm, Neoplasms, Nonsyndromic Deafness, Nystagmus, Osteoarthritis Of Hip, Osteochondrodysplasia, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Cysts, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Pancreatitis, Papillary thyroid cancer, Patent foramen ovale, Peritonitis, Pierre-Robin Syndrome, Pituitary dwarfism, Plagiocephaly, Polyarteritis Nodosa, Pontoneocerebellar hypoplasia, Proptosis, Psychiatric disorders, Renal Carcinoma, Retinal Detachment, Retinal Diseases, Retinitis Pigmentosa, Rhegmatogenous retinal detachment, Rhizomelia, Salivary gland neoplasms, Schwartz-Jampel Syndrome, Sclerosing cholangitis, Short femur, Skeletal Dysplasia, Small cell lung carcinoma, Spondyloenchondrodysplasia, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia, Squamous cell carcinoma, Stargardt disease, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Thoracic Aortic Aneurysm And Aortic Dissection, Thoracic hypoplasia, Triple negative breast cancer, Urinary bladder neoplasms, Van Buchem Disease, Vitreoretinal degeneration, Wagner syndrome
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5569
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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, Weissenbacher-zweymueller syndrome, Deafness autosomal dominant type 13, Deafness, autosomal recessive 53, Fibrochondrogenesis 2
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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5570
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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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