1941
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Cholinergic receptor nicotinic alpha 7 subunit |
CHRNA7-2, NACHRA7, nAChR7 |
Curated: 15q13.3 microdeletion syndrome, Alzheimer disease, Auditory perceptual disorder, Autism, Bipolar disorder, Brain injuries, Obstructive airway disease, Neurodevelopmental disorder, Congenital exomphalos, Congenital omphalocele, Epilepsy, Generalized epilepsy, Intellectual developmental disorder, Lung neoplasms, Memory disorders, Non-specific syndromic intellectual disability, Orofacial cleft, Schizophrenia, Seizures, Substance abuse
Unreviewed: N/A
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1942
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Cholinergic receptor nicotinic alpha 9 subunit |
HSA243342, NACHRA9 |
Curated: Dementia
Unreviewed: Breast Cancer, Breast Carcinoma, Carcinogenesis, Carcinoma, Diabetes complications, Fatigue syndrome, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Neoplasms, Scleroderma
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1943
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Cholinergic receptor nicotinic beta 1 subunit |
ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS |
Curated: Breast cancer, Congenital myasthenic syndrome, Corneal dystrophy, Diverticular disease, Eye disease, Myasthenic syndrome, Parkinson disease, Postsynaptic congenital myasthenic syndrome, Diabetes mellitus type 2, congenital myasthenic syndrome 2C, congenital myasthenic syndrome 2A
Unreviewed: Alzheimer disease, Arthrogryposis, Developmental delay, Facial paralysis, High palate, Hypotonia, Myasthenia Gravis, Myasthenic Syndrome, Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency, Myasthenic Syndrome, Congenital, With Facial Dysmorphism, Associated With Acetylcholine Receptor Deficiency, Myopathy, Ptosis, Respiratory Failure, Thymus Hyperplasia
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1944
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Cholinergic receptor nicotinic beta 2 subunit |
EFNL3, nAChRB2 |
Curated: Alzheimer disease, Anxiety disorder, Attention deficit hyperactivity disorder, Autism, Nocturnal frontal lobe epilepsy, Colorectal cancer, Frontal lobe epilepsy, Focal onset epileptic seizure, Seizures, Neutropenia, Schizophrenia, Substance abuse, familial sleep-related hypermotor epilepsy
Unreviewed: Anxiety Disorder, Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Cognition disorder, Dementia, Down Syndrome, Dysmorphic Features, Epilepsy, Intellectual developmental disorder, Lissencephaly, Mental Depression, Minimal Brain Dysfunction, Nocturnal Epilepsy, Sclerosing cholangitis, Senile Dementia, Short Sleeper Syndromes, Sleep Disorders, Sleep Wake Disorders, Stomach Carcinoma, Stomach Neoplasms, Ulcerative colitis
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1945
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Cholinergic receptor nicotinic beta 3 subunit |
- |
Curated: Attention deficit hyperactivity disorder, Bipolar disorder, Bipolar depression, Major depressive disorder, Parkinson disease, Substance abuse
Unreviewed: Antisocial personality disorder, Attention Deficit Hyperactivity Disorder, Bipolar Disorder, Epilepsy, Esophagus Neoplasm, Intervertebral disc disease, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Mental Depression, Ovarian neoplasm, Psoriasis vulgaris
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1946
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Cholinergic receptor nicotinic beta 4 subunit |
- |
Curated: Amyotrophic lateral sclerosis, Aneurysm, Aortic stenosis, Aortic valve disease, Obstructive airway disease, Obstructive pulmonary disease, Coronary artery disease, Dental caries, Frontotemporal dementia, Hypertrophic cardiomyopathy, Large artery stroke, Lung cancer, Lung neoplasms, Obesity, Obsessive-compulsive disorder, Peripheral arterial disease, Rolandic epilepsy, Schizophrenia, Seizures, Small cell lung carcinoma, Squamous cell carcinoma, Substance abuse, Upper aerodigestive tract neoplasm
Unreviewed: Adenocarcinoma, Anhedonia, Anxiety disorder, Attention Deficit Hyperactivity Disorder, Brain disease, Cardiovascular disease, Chronic Obstructive Pulmonary Disease, Clonic Seizures, Cor pulmonale, Coronary Heart Disease, Diabetes Mellitus, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Hypotonic seizures, Jacksonian Seizure, Laryngeal neoplasm, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung disease, Lung Neoplasms, Malignant Neoplasm, Mental Depression, Neoplasms, Parkinson disease, Peripheral arterial stenosis, Seizure, Stress Disorder, Vascular Diseases
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1947
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Cholinergic receptor nicotinic delta subunit |
ACHRD, CMS2A, CMS3A, CMS3B, CMS3C, FCCMS, SCCMS |
Curated: Arthrogryposis multiplex congenita, Blepharoptosis, Centronuclear myopathy, Congenital myasthenic syndrome, Myasthenic syndrome, Paralysis, Pena-shokeir syndrome , Postsynaptic congenital myasthenic syndrome
Unreviewed: Akinesia, Aplasia Of Muscle, Breast Cancer, Congenital Epicanthus, Cystic hygroma, Developmental delay, Dysphagia, Facial paralysis, High palate, Hypotonia, Lambert-Eaton Myasthenic Syndrome, Lethal Multiple Pterygium Syndrome, Micrognathism, Multiple Pterygium Syndrome, Myasthenia Gravis, Myasthenic Syndrome, Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency, Myasthenic Syndrome, Congenital, With Facial Dysmorphism, Associated With Acetylcholine Receptor Deficiency, Myopathy, Neuromuscular disease, Neuromuscular Diseases, Oguchi disease, Pena Shokeir syndrome, Pena-shokeir syndrome, Ptosis, Pulmonary hypoplasia, Respiratory Failure
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1948
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Cholinergic receptor nicotinic epsilon subunit |
ACHRE, CMS1A1, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, FIM1, FIMG, FIMG1, MGI, SCCMS |
Curated: Alzheimer disease, Blepharoptosis, Congenital myasthenic syndrome, Myasthenic syndrome, Postsynaptic congenital myasthenic syndrome, Diabetes mellitus type 2
Unreviewed: Arthrogryposis multiplex congenita, Azoospermia, Bernard Soulier Syndrome, Bulbar palsy, Developmental delay, Dysarthria, Dysphagia, Esophageal neoplasm, Facial paralysis, High palate, Hirschsprung Disease, Hypotonia, Macrothrombocytopenia, Malnutrition, Malocclusion, Motor delay, Myasthenia Gravis, Myasthenic Syndrome, Myelodysplastic Syndrome, Myeloid leukemia, Myopathy, Neoplasms, Ptosis, Respiratory Failure, Scoliosis, Sinusitis, Strabismus, Sudden episodic apnea, Thymoma, Thymus Hyperplasia, von Willebrand disorder
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1949
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Cholinergic receptor nicotinic gamma subunit |
ACHRG |
Curated: Arthrogryposis, Arthrogryposis multiplex congenita, Bone disease, Hypo-akinesia disorder of prenatal onset, Myasthenia gravis, Myasthenic syndrome, Pena-shokeir syndrome , Peripheral neuropathy, Rheumatoid arthritis, Scoliosis
Unreviewed: Abnormal spinal segmentation, Akinesia, Amyotrophic Lateral Sclerosis, Aortic Aneurysm, Aplasia Of Muscle, Arachnodactyly, Bone Disease, Camptodactyly, Chronic disease, Congenital alveolar dysplasia, Congenital Anomaly Of Neck, Congenital Clubfoot, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Exomphalos, Congenital Hypoplasia Of Penis, Congenital Pectus Excavatum, Cryptorchidism, Cystic hygroma, Dermatitis, Diabetes mellitus, Diaphragmatic Eventration, Dislocated radial head, Dolichocephaly, Drachtman Weinblatt Sitarz syndrome, Dwarfism, Dysmorphic Features, Exostosis of external ear canal, Hearing Loss, High palate, Hypogonadism, Hypoplasia Of Nipple, Hypospadias, Impaired Cognition, Lateral Sclerosis, Lethal Multiple Pterygium Syndrome, Microcephaly, Micrognathism, Microstomia, Mucopolysaccharidosis, Multiple Congenital Anomalies, Multiple Pterygium Syndrome, Myasthenia Gravis, Myasthenic Syndrome, Neck Webbing, Nevus, Ovarian diseases, Pena Shokeir syndrome, Pena-shokeir syndrome, Peripheral Neuropathy, Pterygium, Ptosis, Pulmonary hypoplasia, Rhabdomyosarcoma, Rib fusion, Spina bifida occulta, Strabismus, Syndactyly, Syndactyly of fingers, Vertical Talus
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1950
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Cholesterol induced regulator of metabolism RNA |
CHROME, PRKRA-AS1 |
Curated: N/A
Unreviewed: Dermatitis, Dystonia, Multiple Sclerosis, Psoriasis
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