2572
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Cartilage oligomeric matrix protein |
CTS2, EDM1, EPD1, MED, PSACH, THBS5, TSP-5, TSP5 |
Curated: Attention deficit hyperactivity disorder, Carpal tunnel syndrome, Comp-related skeletal dysplasia, Congenital cartilage disorder, Connective tissue disease, Desbuquois syndrome, Epiphyseal dysplasia, Osteoarthritis, Osteochondrodysplasias
Unreviewed: Alkaptonuria, alpha Thalassemia, Anaplasia, Androgen-Insensitivity Syndrome, Aortic Aneurysm, Arteriosclerosis, Arthritis, Arthropathy, Asthma, Atherosclerosis, Atrial Fibrillation, Autism Spectrum Disorder, Avascular Necrosis Of The Capital Femoral Epiphysis, Barrett esophagus, Bone Disease, Brachydactyly, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Cardiomyopathy, Cardiovascular Diseases, Cartilage disease, Cartilage Diseases, Cerebellar medulloblastoma, Cerebrovascular disorder, Cholangiocarcinoma, Chondrosarcoma, Cirrhosis, Colitis, Colon Carcinoma, Colonic Neoplasms, Colorectal neoplasm, Congenital genu recurvatum, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Coronary Stenosis, Crohn Disease, Dermatitis, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diabetic Retinopathy, Diastrophic Dysplasia, Dwarfism, Dysplastic Nevus, Endometriosis, Erectile Dysfunction, Glioma, Hamartomatous polyposis, Hemoglobin H Disease, Hepatocellular carcinoma, Hypercholesterolemia, Hyperglycemia, Hyperlipoproteinemia, Hypertension, Hyperuricemia, Idiopathic pulmonary fibrosis, Immunologic Deficiency Syndromes, Intestinal Polyposis, Kidney Disease, Knee osteoarthritis, Legg-Calve-Perthes Disease, Lipoma, Lipomatosis, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Malignant Neoplasm, Medulloblastoma, Melanoma, Mental Depression, Metabolic Diseases, Micromelia, Mucopolysaccharidosis, Multiple Epiphyseal Dysplasia, Myocardial Infarction, Neoplasms, Nervous System Disorder, Neurodegenerative disorder, Obesity, Oral Submucous Fibrosis, Osteoarthritis Of Hip, Osteoarthrosis Deformans, Osteochondrodysplasia, Osteoporosis, Osteosarcoma, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatitis, Pituitary dwarfism, Prostate cancer, Prostatic neoplasm, Pseudoachondroplasia, Psoriatic Arthritis, Pulmonary Fibrosis, Respiratory Failure, Restrictive cardiomyopathy, Rheumatoid arthritis, Sarcoma, Scleroderma, Scoliosis, Sensory neuropathy, Septicemia, Skeletal Dysplasia, Skin Erosion, Spinal Muscular Atrophy, Spondyloepimetaphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Synovitis, Systemic sclerosis, Teratozoospermia, Thyroid cancer, Triple Negative Breast Neoplasms, Urinary bladder neoplasms, Vascular Diseases
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2573
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Catechol-O-methyltransferase |
HEL-S-98n |
Curated: 22q11.2 deletion syndrome, Amphetamine or sympathomimetic abuse, Anhedonia, Attention deficit hyperactivity disorder, Autism, Bardet-biedl syndrome, Bipolar disorder, Breast neoplasms, Bulimia, Cannabis abuse, Hepatocellular carcinoma, Dilated cardiomyopathy, Cardiomyopathy, Cognition disorder, Delirium, dementia, and cognitive disorders, Bipolar depression, Major depressive disorder, Digeorge syndrome, Dyskinesia, Dysphonia, Glucocorticoid deficiency, Hyperalgesia, Hypertension, Intermittent explosive disorder, Internet addiction disorder, Memory disorders, Metabolic syndrome, Mood disorder, Obesity, Obsessive-compulsive disorder, Osteosarcoma, Panic disorder, Paroxysmal dyskinesia, Pheochromocytoma, Prostatic neoplasms, Psoriasis, Schizophrenia, Scoliosis, Diabetes mellitus type 2, Depression, Uremia, Vitiligo
Unreviewed: 22q11 deletion syndrome, 22q11 partial monosomy syndrome, Ablepharon, Abnormal Involuntary Movement, Acne, Acrocephaly, Adenocarcinoma, Adrenal Gland Pheochromocytoma, Affective Psychosis, Age-Related Memory Disorders, Alzheimer disease, Anaplasia, Anemia, Anencephaly, Anodontia, Anorexia, Anorexia nervosa, Antisocial personality disorder, Anxiety Disorder, Aphasia, Arachnodactyly, Arrhinencephaly, Arteriosclerosis, Arthralgia, Arthritis, Asthma, Asymmetric crying face association, Atherosclerosis, Atrial Septal Defect, Atrophy, Attention Deficit Hyperactivity Disorder, Auditory perceptual disorder, Autism spectrum disorder, Autonomic Central Nervous System Diseases, Behavior Disorders, Benign Prostatic Hyperplasia, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Body weight, Borderline personality disorder, Bowel incontinence, Brain disease, Brain injuries, Brain neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchopulmonary Dysplasia, Cancer, Carcinogenesis, Carcinoma, Carcinoma Of The Head And Neck, Cardiovascular disease, Cardiovascular Diseases, Carpal Tunnel Syndrome, Cataract, Central nervous system disease, Cerebral Microangiopathy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Cholelithiasis, Chronic disease, Chronic Obstructive Pulmonary Disease, Chronic pain, Chronobiology disorder, Cockayne Syndrome, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Common Migraine, Conduct Disorder, Congenital Chromosomal Disease, Congenital Clubfoot, Congenital Epicanthus, Congenital Exomphalos, Congenital Hypoplasia Of Thymus, Congenital malrotation of intestine, Congenital pain insensitivity, Conotruncal Anomaly Face Syndrome, Corneal Neovascularization, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Corticobasal degeneration, Craniocerebral trauma, Cryptorchidism, Delirium, Delusions, Dementia, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetes mellitus, type 2, Diarrhea, DiGeorge Syndrome, Disruptive Behavior Disorder, Disruptive, impulse control, and conduct disorders, Dowling-Degos Disease, Down Syndrome, Duchenne muscular dystrophy, Dwarfism, Dysautonomia, Dyskinetic Syndrome, Dyslexia, Dysphasia, Dyssomnia, Dysthymic Disorder, Ear Diseases, Eating Disorders, Eclampsia, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometriosis, Enzymopathy, Epilepsy, Episodic Kinesigenic Dyskinesia, Esophagus Neoplasm, Extra-Adrenal Pheochromocytoma, Fatigue syndrome, Fibrodysplasia Ossificans Progressiva, Frontotemporal dementia, Gastroesophageal Reflux Disease, Glaucoma, Glioblastoma, Gout, Hallucinations, Headache, Hearing Loss, Heart disease, Hemochromatosis, Hereditary sensory and autonomic neuropathy, Hirschsprung Disease, Huntington Disease, Hydrocephalus, Hypercholesterolemia, Hyperkinesia, Hypersomnia, Hyperthyroidism, Hypoalbuminemia, Hypoparathyroidism, Hypospadias, Hypothyroidism, Hypoxia, Ichthyosis Bullosa Of Siemens, Immunologic Deficiency Syndromes, Impaired Cognition, Imperforate anus, Impulse control disorder, Intellectual developmental disorder, Intervertebral Disc Degeneration, Intervertebral disc disease, Irritable Bowel Syndrome, Ischemic Stroke, Junctional epidermolysis bullosa, Kidney Cancer, Kidney Disease, Kidney Failure, Kleine-Levin Syndrome, Laryngomalacia, Lateral Meningocele Syndrome, Leiomyoma, Lewy Body Disease, Limb-Mammary Syndrome, Lissencephaly, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lupus Erythematosus, Lymphoma, Lynch Syndrome, Major Affective Disorder, Malignant Neoplasm, Mammary Neoplasms, Manic Disorder, Marfan Syndrome, Memory Disorders, Mental Depression, Mental Disorders, Mental retardation, Metabolic Syndrome, Microcephaly, Micrognathism, Microphthalmos, Microstomia, Migraine, Minimal Brain Dysfunction, Mitral Valve Stenosis, Mixed Anxiety And Depressive Disorder, Mood Disorder, Multiple renal cysts, Multiple Sclerosis, Myelomeningocele, Myeloproliferative disorder, Myeloproliferative Disorder with Eosinophilia, Myocardial Infarction, Myocardial Ischemia, Narcolepsy, Neoplasms, Nervous System Disorder, Neural Tube Defect, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurotic Disorders, Neuroticism, Non-Hodgkin lymphoma, Nonorganic Psychosis, Obsessive-Compulsive Disorder, Oestrogen Receptor Positive Breast Cancer, Oppositional Defiant Disorder, Optic Atrophy, Osteochondritis Dissecans, Osteoporosis, Otitis media, Ovarian cancer, Ovarian diseases, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Overactive bladder, Pancreatic cancer, Pancreatic carcinoma, Pancreatitis, Panic Disorder, Paranoia, Paranoid Schizophrenia, Paresis, Parkinson disease, Paroxysmal kinesigenic choreoathetosis, Patent ductus arteriosus, Periodontitis, Persistent truncus arteriosus, Personality Disorders, Phobic Anxiety Disorder, Platybasia, Polycystic kidney disease, Polycystic Ovary Syndrome, Polydactyly Of Toes, Polyneuropathy, Posterior embryotoxon, Premature Menopause, Primary hypertrophic osteoarthropathy, Progressive Pseudorheumatoid Dysplasia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychosis, Psychotic disorders, Ptosis, Rectal Carcinoma, Renal Carcinoma, Renal hypoplasia, Renal Insufficiency, Respiratory system infectious disease, Schizoaffective Disorder, Schizophreniform Disorders, Seasonal Affective Disorder, Seborrheic dermatitis, Senile Dementia, Shared Paranoid Disorder, Shprintzen Syndrome, Shprintzen-Goldberg Syndrome, Sickle cell anemia, Sleep Apnea, Sleep deprivation, Sleep Disorders, Specific Learning Disorder, Spina Bifida, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Stress Disorder, Stroke, Sveinsson chorioretinal atrophy, T-cell leukemia, Temporal lobe epilepsy, Temporomandibular Joint Disorders, Tetralogy of Fallot, Thrombophilia, Thrombosis, Thyroid Carcinoma, Tibial muscular dystrophy, Tourette Syndrome, Treatment Related Secondary Malignancy, Tricuspid Atresia, Triple negative breast cancer, Triple Negative Breast Neoplasms, Urinary bladder cancer, Urinary bladder neoplasms, Urinary Tract Cancer, Uterine Anomalies, Uterine Fibroids, Uterine neoplasm, Vascular disease, Velopharyngeal Insufficiency, Ventricular septal defect, Vesicoureteral Reflux, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS, Vulval varices, Willis-ekbom disease, Wolfram Syndrome, Xeroderma Pigmentosum
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2578
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Coat protein complex I subunit alpha |
AIAISD, AILJK, HEP-COP, alpha-COP |
Curated: Ankylosing spondylitis, Arthritis, Autoimmune disease, Autoimmune interstitial lung disease-arthritis syndrome, Autoinflammation and autoimmunity, systemic, with immune dysregulation 1, Lung disease
Unreviewed: Autoimmune Diseases, Autoimmune Interstitial Lung Disease-Arthritis Syndrome, Autoimmune Interstitial Lung, Joint, And Kidney Disease, Autoinflammatory Disease, Bronchiolitis obliterans, Carcinogenesis, Colorectal neoplasm, Cough, Cryoglobulinemia, Diabetes, Diabetes Mellitus, Gastrointestinal stromal tumor, Hemangiosarcoma, Hyperglycemia, Hypersensitivity, Liver carcinoma, Lung Diseases, Mesothelioma, Myeloid leukemia, Neoplasms, Obesity, Polyarthritis, Polycystic Ovary Syndrome, Renal glycosuria, Renal Insufficiency, Sleep apnea, Spinal Muscular Atrophy, Stomach Carcinoma, Stomach Neoplasms, Uterine neoplasm
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2580
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Coat protein complex I subunit beta 2 |
MCPH19, OPDD, beta'-COP |
Curated: Primary microcephaly, Bone fragility with contractures, arterial rupture, and deafness, Microcephaly, Obesity, Osteoporosis, Osteoporosis-pseudoglioma syndrome
Unreviewed: Agenesis Of Corpus Callosum, Arteriosclerosis, Atherosclerosis, Breast neoplasm, Central Visual Impairment, Cholangiocarcinoma, Colonic neoplasm, Colorectal Cancer, Colorectal neoplasm, Developmental Delay, Diabetic Nephropathy, Dwarfism, Glioma, Glomerulosclerosis, Graves ophthalmopathy, Hepatocellular carcinoma, Hypoplasia Of Corpus Callosum, Kawasaki disease, Kidney neoplasm, Lichen amyloidosis, Lung adenocarcinoma, Lymphatic metastasis, Malignant Neoplasm, Mental retardation, Neoplasms, Neuronal Heterotopia, Pachygyria, Pancreatic neoplasm, Prostate cancer, Renal aplasia, Sarcoma, Scleroderma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Uterine neoplasm, Vesicoureteral Reflux, Vitamin d deficiency
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