AutismKB 2.0

Annotation Detail for CLCN7


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Basic Information Top
Gene Symbol:CLCN7 ( CLC-7,CLC7,FLJ26686,FLJ39644,FLJ46423,OPTA2,OPTB4 )
Gene Full Name: chloride channel 7
Band: 16p13.3
Quick LinksEntrez ID:1186; OMIM: 602727; Uniprot ID:CLCN7_HUMAN; ENSEMBL ID: ENSG00000103249; HGNC ID: 2025
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1710Albers-Schonberg disease
1824Bone disease
2247Osteomyelitis
Desease Name
bone density
METABOLIC
No data
Desease Name
Osteopetrosis, autosomal dominant 2
Osteopetrosis, autosomal recessive 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CLCN7 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CLCN7 mRNAaffects expression 16483693
C055162 clopidogrel clopidogrel inhibits the reaction [Lipopolysaccharides results in increased expression of CLCN7 mRNA]decreases reaction|increases expression 19172522
D016572 Cyclosporine Cyclosporine results in increased expression of CLCN7 mRNAincreases expression 20106945
D008070 Lipopolysaccharides clopidogrel inhibits the reaction [Lipopolysaccharides results in increased expression of CLCN7 mRNA]decreases reaction|increases expression 19172522
D010634 Phenobarbital Phenobarbital results in increased expression of CLCN7 mRNAincreases expression 12807726
D011441 Propylthiouracil Propylthiouracil results in increased expression of CLCN7 mRNAincreases expression 17403546
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.836195326
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D054058 Acute Coronary Syndrome clopidogrel 6.4019106084
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.3311850527 18653653
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.3717620307
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 4.5519483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.983084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.9820007298 17173139 1701930 20935162 6705139
MESH:D002318 Cardiovascular Diseases clopidogrel 4.7920180610
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7112371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6512392966 19420014 16393943 11743745 15968718 2444490 19370779 10915739 16485898 11739529 17562736 19164858 10774834 15619225 11421492 19923254 16177239 12594235 14725611 19739265 16781746 18713872 16109766 14550746 12705907 11287661 12958197 11529661 14986274 10663392 19085960 12540782 11834606 12153990 16227642 16081117 19416960 17906064 18071297 11461765 17522070
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004421 Dystonia Phenobarbital 4.311851702
MESH:D019446 Endotoxemia Lipopolysaccharides 4.7917637181 15821434 15328337
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.473659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.313922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.796401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.617750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.413659116
MESH:D005234 Fatty Liver Cyclosporine 3.1419224547
MESH:D005334 Fever Lipopolysaccharides 4.2811852909 9205823
MESH:D005355 Fibrosis Cyclosporine 3.5012639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.6516366002
MESH:D006529 Hepatomegaly Phenobarbital 3.8416109766
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006973 Hypertension Cyclosporine 2.1810903974
MESH:D007037 Hypothyroidism Propylthiouracil 5.2418031379 8137927
MESH:D007249 Inflammation Lipopolysaccharides 2.9917255318 12878042 17963957 17237260 9205823
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.9317255318
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Acetaminophen 6.2812587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.288314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.9712371664
MESH:D007970 Leukopenia Lipopolysaccharides 5.0915821434
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 2.2612878042
MESH:D008107 Liver Diseases Acetaminophen 4.1319460945 12587719 12969438 16610002 19014921 16611625 19784758 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.1319363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5016871587 17185352
MESH:D008113 Liver Neoplasms Phenobarbital 2.3915975961 19482888 19812893 19073162 8742319 21047994
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.8618308698 1399818 17172636 6150874 2563599
MESH:D055370 Lung Injury Lipopolysaccharides 4.3621114838
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009362 Neoplasm Metastasis clopidogrel 4.2511875746
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
OMIM:166600 OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 marker/mechanism
OMIM:611490 OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 marker/mechanism
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5716965848
MESH:D011014 Pneumonia Lipopolysaccharides 4.9511605937 12224865
MESH:D011230 Precancerous Conditions Cyclosporine 9.8112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.812563599
MESH:D019310 Pseudolymphoma Phenobarbital 4.9412752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.9010835634
MESH:D012170 Retinal Vein Occlusion clopidogrel 6.4819371211
MESH:D012640 Seizures Phenobarbital 2.8716876388 11442880 4039156 3137016
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.4315821434
MESH:D013964 Thyroid Neoplasms Phenobarbital 8.151399818
MESH:D013964 Thyroid Neoplasms Propylthiouracil 8.1515710170
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
No data
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018