2481
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Component of oligomeric golgi complex 4 |
CDG2J, COD1, SWILS |
Curated: Congenital disorder of glycosylation, Desbuquois syndrome, Gross motor development delay, Metabolic syndrome, Saul-wilson syndrome, Diabetes mellitus type 2, COG4-congenital disorder of glycosylation, microcephalic osteodysplastic dysplasia, Saul-Wilson type
Unreviewed: Apraxia, Blood Coagulation Disorders, Cataract, Cerebral Atrophy, Cirrhosis, Cone Dystrophy, Congenital bilateral ptosis, Congenital Clubfoot, Congenital Pectus Carinatum, Congenital Pectus Excavatum, Developmental Delay, Diabetic neuropathy, Dwarfism, Epiphyseal dysplasia, Frontal bossing, Frontotemporal cerebral atrophy, Hearing Loss, Hepatolenticular degeneration, Hypercholesterolemia, Hypoplasia Of Corpus Callosum, Isolated Somatotropin Deficiency, Macrocephaly, Microcephalic osteodysplastic dysplasia, Microcephaly, Micrognathism, Motor delay, Nervous system disease, Neutropenia, Nyctalopia, Nystagmus, Proptosis, Renal cell carcinoma, Retinitis Pigmentosa, Seizure, Sensorineural hearing loss
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2482
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Component of oligomeric golgi complex 5 |
CDG2I, GOLTC1, GTC90 |
Curated: Atrial fibrillation, Congenital disorder of glycosylation, Coronary artery disease, Dyslexia, Insomnia, Osteoarthritis, COG5-congenital disorder of glycosylation
Unreviewed: Arthritis, Ataxia with vitamin e deficiency, Atrial Fibrillation, Autism, Brainstem Atrophy, Central Visual Impairment, Cerebellar atrophy, Cerebellar diseases, Clinodactyly, Cognitive disorder, Cryptorchidism, Dwarfism, Dysmorphic Features, Epiphyseal dysplasia, Friedreich Ataxia, Hearing Loss, High palate, Language development disorders, Leber congenital amaurosis, Mental retardation, Microcephaly, Motor delay, Neurogenic Urinary Bladder, Paroxysmal atrial fibrillation, Penis Agenesis, Posteriorly Rotated Ear, Psychiatric disorders, Retinal degeneration, Strabismus, Uterine Fibroids
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2483
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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, COG6-congenital disorder of glycosylation
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, Shaheen syndrome, Still Disease, Uterine Fibroids
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2484
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Component of oligomeric golgi complex 7 |
CDG2E |
Curated: Congenital disorder of glycosylation, COG7-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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2485
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Component of oligomeric golgi complex 8 |
CDG2H, DOR1 |
Curated: Congenital disorder of glycosylation, Metabolic syndrome, Diabetes mellitus type 2, COG8-congenital disorder of glycosylation
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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2486
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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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2487
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Coilin pseudogene 1 |
COILP |
Curated: N/A
Unreviewed: N/A
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2488
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Coilin pseudogene 2 |
COILP-2 |
Curated: N/A
Unreviewed: N/A
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2489
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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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2490
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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
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, Fibrochondrogenesis, 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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