5191
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Chloride channel CLIC like 1 |
ERAC1, MCLC, RP32 |
Curated: Chudley-mccullough syndrome, Deafness, Hearing loss, Major depressive disorder, Oligodendroglioma, Retinitis pigmentosa
Unreviewed: Amyotrophic lateral sclerosis, Liver neoplasm, Retinal detachment, Squamous cell carcinoma
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5192
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Cardiotrophin like cytokine factor 1 |
BSF-3, BSF3, CISS2, CLC, NNT-1, NNT1, NR6 |
Curated: Cold-induced sweating syndrome, Crisponi syndrome
Unreviewed: Allergic rhinitis, Anaplastic thyroid cancer, Arteriosclerosis, Arthritis, Asthma, Atherosclerosis, Atrophy, Autoimmune Diseases, Bartter syndrome, Behcet disease, Blood coagulation disorder, Bone Disease, Bronchiolitis, Celiac disease, Chronic obstructive pulmonary disease, Clinodactyly, Cold-Induced Sweating Syndrome, Colitis, Colorectal Cancer, Colorectal neoplasm, Congenital myotonia, Coronary artery disease, Craniosynostosis, Crisponi Syndrome, Crohn disease, Cubitus valgus, Eosinophilia, Epilepsy, Facial paralysis, Glioma, Granulomatosis with polyangiitis, High palate, Hypercalciuria, Hypereosinophilic syndrome, Hypertension, Hypohidrosis, Immune System Diseases, Impaired Cognition, Keratoconus, Kidney Disease, Kidney stone, Leukemia, Lung adenocarcinoma, Lymphoblastic Leukemia, Lymphocytic Leukemia, Malignant Neoplasm, Micrognathism, Microscopic polyangiitis, Microstomia, Multiple myeloma, Multiple polyposis syndrome, Myasthenia Gravis, Myotonia Congenita, Nasal polyp, Nasal polyposis, Nasopharyngeal Carcinoma, Neoplasms, Nephrolithiasis, Osteopetrosis, Osteoporosis, Psoriasis, Respiratory system infectious disease, Rhinosinusitis With Nasal Polyps, Scoliosis, Sensorimotor neuropathy, Sinusitis, Stomach Neoplasms, Syndactyly Of The Toes, Thoracolumbar scoliosis, Ulcerative colitis, Vasculitis
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5193
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Chloride voltage-gated channel 1 |
CLC1 |
Curated: Becker generalized myotonia, Cerebral palsy, Congenital myotonia, Hyperkalemic periodic paralysis, Metachromatic leukodystrophy, Memory disorders, Migraine, Myocardial infarction, Myopathy, Smith-lemli-opitz syndrome, Myotonia congenita
Unreviewed: Andersen Syndrome, Andersen-tawil syndrome, Becker Muscular Dystrophy, Breast Cancer, Cardiac arrhythmias, Cognition disorder, Conduct disorder, Cystic Fibrosis, Dysphagia, Dystonia, Epilepsy, Episodic Kinesigenic Dyskinesia, Huntington Disease, Hyperkalemic Periodic Paralysis, Hypokalemic Periodic Paralysis, Hypoplasia of the maxilla, Leukoencephalopathy, Lipoma, Major depressive disorder, Myocardial Infarction, Myoclonic epilepsy, Myotonia, Myotonia Congenita, Myotonia Levior, Myotonic Disorders, Myotonic dystrophy, Osteopetrosis, Paramyotonia Congenita, Paroxysmal dystonia, Paroxysmal nonkinesigenic dyskinesia, Polymyositis, Seizure, Seizures, Thomsen And Becker Disease
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5194
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Chloride voltage-gated channel 2 |
CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, FHA2, FHII, HALD2, LKPAT, clC-2 |
Curated: Bipolar disorder, Central nervous system demyelinating disease, Cerebellar ataxia, Cerebral palsy, Cushing syndrome, Epilepsy, Familial focal epilepsy with variable foci, Idiopathic generalized epilepsy, Hyperaldosteronism, Glioma, Intellectual developmental disorder, Myoclonic epilepsy
Unreviewed: Absence epilepsy, Arteriosclerosis, Atherosclerosis, Atrial fibrillation, Cognition disorder, Colitis, Conn Adenoma, Conn Syndrome, Cystic Fibrosis, Demyelinating diseases, Diabetes Mellitus, Eye disease, Febrile seizures, Glaucoma, Glucocortocoid-Insensitive Hyperaldosteronism, Headache, Hepatocellular carcinoma, Hypertension, Leukodystrophy, Leukoencephalopathy, Leukoencephalopathy With Ataxia, Leukoencephalopathy With Mild Cerebellar Ataxia And White Matter Edema, Lung Diseases, Lymphoma, Mammary Neoplasms, Megalencephalic Leukoencephalopathy With Subcortical Cysts, Metabolic alkalosis, Metabolic Diseases, Metachromatic leukodystrophy, Migrating Partial Seizures In Infancy, Mouth Abnormalities, Myoclonic Astatic Epilepsy, Myoclonic Epilepsy, Nasal polyposis, Nervous System Disorder, Non-Alcoholic Fatty Liver Disease, Photosensitive tonic-clonic seizures, Prostate cancer, Prostatic neoplasm, Status Epilepticus, Stroke, Ulcerative colitis
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5195
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Chloride voltage-gated channel 3 |
CLC3, ClC-3, NEDHYBA, NEDSBA |
Curated: Amyotrophic lateral sclerosis, Autism, Neurodevelopmental disorder, Glioma, Nasopharyngeal carcinoma, Non-specific syndromic intellectual disability, Parkinson disease, Schizophrenia, Stomach neoplasms
Unreviewed: Amyloidosis, Asthenozoospermia, Asthma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiovascular Diseases, Cervix carcinoma, Chondrosarcoma, Cognitive disorder, Colorectal neoplasm, Congestive Heart Failure, Development Disorder, Developmental Delay, Diabetes Mellitus, Dilated cardiomyopathy, Endometriosis, Epithelial ovarian carcinoma, Gastric Cancer, Glioblastoma, Heart Failure, Hypereosinophilic syndrome, Hypertension, Hypertrophic cardiomyopathy, Impaired Cognition, Liver carcinoma, Liver neoplasms, Lung adenocarcinoma, Lymphatic Metastasis, Malignant Neoplasm, Nasal polyposis, Nasopharyngeal Carcinoma, Neoplasms, Neuronal Ceroid Lipofuscinosis, Obesity, Osteosarcoma, Ovarian neoplasm, Prostate cancer, Pulmonary arterial hypertension, Pulmonary hypertension, Stomach Carcinoma, Stomach Neoplasms
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5196
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Chloride voltage-gated channel 3 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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5197
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Chloride voltage-gated channel 4 |
CLC4, ClC-4, ClC-4A, MRX15, MRX49, MRXSRC |
Curated: Intellectual disability, Global developmental delay, Intellectual developmental disorder, x-linked, Intellectual developmental disorder, Neurodevelopmental disorder, X-linked intellectual disability, X-linked complex neurodevelopmental disorder
Unreviewed: Absence epilepsy, Anxiety Disorder, Attention Deficit Hyperactivity Disorder, Autism, Bipolar Disorder, Brain disease, Central Visual Impairment, Cerebellar Ataxia, Cerebral cortical atrophy, Chondrodysplasia Punctata, Colon Carcinoma, Colonic Neoplasms, Cryptorchidism, Developmental and epileptic encephalopathy, Developmental Delay, Dwarfism, Dyscognitive seizures, Endometrial neoplasm, Epilepsy, Facial paralysis, Focal Tonic Seizures, Gastroesophageal Reflux Disease, Glioma, Hypoplasia Of Corpus Callosum, Hypotonia, Lissencephaly, Macrocephaly, Major Affective Disorder, Malocclusion, Meckel Diverticulum, Mental Depression, Mental retardation, Mental Retardation, X-Linked, Microcephaly, Myoclonic epilepsy, Neuroblastoma, Neurosensory Hearing impairment, Non-Syndromic Intellectual Disability, X-Linked, Obesity, Obsessive-Compulsive Disorder, Ocular albinism, Periventricular Leukomalacia, Scoliosis, Seizure, Seizures, Strabismus, Syndactyly Of The Toes, Syndromic microphthalmia, West Syndrome
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5198
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Chloride voltage-gated channel 5 |
CLC5, CLCK2, ClC-5, DENT1, DENTS, NPHL1, NPHL2, XLRH, XRN, hCIC-K2 |
Curated: Dent disease, Desbuquois syndrome, Hypophosphatemic rickets, Glioma, Nephrolithiasis, Nephrotic syndrome, Proteinuria, X-linked nephrolithiasis
Unreviewed: Alport Syndrome, Bartter syndrome, Cholangiocarcinoma, Dent`s Disease, Diabetes Mellitus, Dwarfism, Fanconi Anemia, Fanconi Syndrome, Glomerulonephritis, Glomerulosclerosis, Growth disorder, Hypercalciuria, Hypophosphatemic Rickets, Hypophosphatemic Vitamin D Refractory Rickets, X-Linked, Inflammatory Bowel Disease, Intellectual developmental disorder, Irritable Bowel Syndrome, Isolated Somatotropin Deficiency, Kidney Disease, Kidney Failure, Kidney stone, Lissencephaly, Lymphocytic Leukemia, Membranous Glomerulonephritis, Mental retardation, Microcephaly, Multiple myeloma, Multiple small medullary renal cysts, Nephritis, Nephrocalcinosis, Nephrolithiasis With Renal Failure, X-Linked, Oculocerebrorenal Syndrome, Osteochondroma, Osteomalacia, Osteoporosis, Phosphate Diabetes, Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis, Psychiatric disorders, Renal fibrosis, Renal Glomerular Disease, Renal Insufficiency, Renal Tubular Disorder, Rickets, Somatotropin Deficiency, Turner syndrome, Vitamin D-Dependent Rickets
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5199
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Chloride voltage-gated channel 6 |
CLC-6, CONRIBA |
Curated: Atrial fibrillation, Cardiovascular disease, Neuronal ceroid lipofuscinosis, Ischemic heart disease, Neurodegeneration peripheral neuropathy syndrome, Coronary artery disease, Hypertension, Global developmental delay, Major depressive disorder, Movement disorder, Myocardial ischemia, Neurodevelopmental disorder, Obesity, Preeclampsia, Psoriasis, neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities
Unreviewed: Asthma, Atrial Fibrillation, Atrial standstill, Cardiovascular Diseases, Congenital heart defect, Developmental disability, Epilepsy, Febrile seizures, Frontotemporal dementia, Infantile spasms, Neurodegenerative disorder, Neuronal Ceroid Lipofuscinosis, Osteopetrosis, Prostatic neoplasm, Stroke, Visual disorder
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5200
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Chloride voltage-gated channel 7 |
CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63 |
Curated: Osteopetrosis, Desbuquois syndrome, Osteosclerosis, hypopigmentation, organomegaly, and delayed myelination and development, autosomal dominant osteopetrosis 2, autosomal recessive osteopetrosis 4
Unreviewed: Albers-Schonberg Osteopetrosis, Alloimmunisation, Anemia, Anterior cruciate ligament injury, Anterior uveitis, Arthritis, Blindness, Bone Disease, Bone neoplasm, Bone resorption, Cardiovascular Diseases, Cerebellar atrophy, Congenital Osteopetrosis, Cranial Nerve Paralysis, Craniosynostosis, Cystic Fibrosis, Developmental Delay, Diabetes, Diabetes Mellitus, Duchenne muscular dystrophy, Dwarfism, Epilepsy, Facial paralysis, Frontal bossing, Glioma, Hamartoma, Hematologic disease, Hydrocephalus, Hyperlipoproteinemia, Hypertension, Hypopigmentation Disorder, Kidney stone, Macrocephaly, Malignant Osteopetrosis, Mandibular osteomyelitis, Nasopharyngeal carcinoma, Nephrolithiasis, Nystagmus, Obesity, Opsoclonus, Optic Atrophy, Osteoarthritis Of Hip, Osteomyelitis, Osteopetrosis and infantile neuroaxonal dystrophy, Osteoporosis, Otitis media, Pulmonary arterial hypertension, Rhinitis
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