AutismKB 2.0

Annotation Detail for CLCN5


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Basic Information Top
Gene Symbol:CLCN5 ( CLC5,CLCK2,DENTS,NPHL1,NPHL2,XLRH,XRN,hCIC-K2,hClC-K2 )
Gene Full Name: chloride channel 5
Band: Xp11.23
Quick LinksEntrez ID:1184; OMIM: 300008; Uniprot ID:CLCN5_HUMAN; ENSEMBL ID: ENSG00000171365; HGNC ID: 2023
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1832Congenital abnormality
2107Proteinuria
Desease Name
hypercalciuric nephrocalcinosis
No data
Desease Name
Nephrolithiasis, type I
Dent disease
Hypophosphatemic rickets
Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CLCN5 mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of CLCN5 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CLCN5 mRNAaffects expression 16483693
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of CLCN5 mRNAaffects cotreatment|decreases expression 18164116
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in decreased expression of CLCN5 mRNAdecreases expression 15912405
D001761 Bleomycin Bleomycin results in increased expression of CLCN5 mRNAincreases expression 15808516
D016572 Cyclosporine Cyclosporine results in decreased expression of CLCN5 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in decreased expression of CLCN5 mRNAaffects cotreatment|decreases expression 18164116
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of CLCN5 mRNAaffects cotreatment|increases expression 17183730
D007455 Iodine CLCN5 gene mutant form results in increased abundance of Iodineincreases abundance 16306076
D007455 Iodine CLCN5 gene mutant form results in increased uptake of Iodineincreases uptake 16306076
D001556 Lindane Lindane results in decreased expression of CLCN5 mRNAdecreases expression 17785943
D008713 Methimazole Methimazole results in increased expression of CLCN5 mRNAincreases expression 17403546
D010126 Ozone Ozone results in increased expression of CLCN5 mRNAincreases expression 12763052
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of CLCN5 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.578875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9819490988
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D055371 Acute Lung Injury Bleomycin 4.9417118201
MESH:D000236 Adenoma beta-Naphthoflavone 6.9819389873
MESH:D000236 Adenoma Diethylnitrosamine 6.986695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 3.9819061943 17162532 16434500 19052882 17620307 18056438
MESH:D000382 Agricultural Workers' Diseases Lindane 4.4512661182
MESH:D000544 Alzheimer Disease Ozone 2.4515513908
MESH:D000550 Amblyopia Valproic Acid 5.3317688650
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D000860 Anoxia Bleomycin 5.4915782499
MESH:D001008 Anxiety Disorders Valproic Acid 3.6217497229
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.8520041841 18057881 18218290
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5715570426
MESH:D001249 Asthma Ozone 2.6516373670 17854713
MESH:D001281 Atrial Fibrillation Amiodarone 3.9419698954 18651412
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8518316065 19460635 18985861 19232924 20603192 18940202 18558336 17157402 18775368 17507914 15238991 18396377 18177632 17688650 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.1020046352 17594078
MESH:D001778 Blood Coagulation Disorders Amiodarone 3.9519483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.438888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.5217474063
MESH:D001943 Breast Neoplasms Lindane 2.5214688026
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7218417511 17626835 15516495 19059883 18315731 16777450 14754758
MESH:D002100 Cachexia Ozone 4.8216183385
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.873084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.8716502159 17761372 19208518 17138121 16569478 18788625 10737359 16807293 18971187 20084675 20727157 10672840 16328049 19171122 20214788 16878318 19418558 20935162 16935385 17055752 18665156 16288022 20101231 3581430 16698587 18785209 20007298 19335982 17428255 17173139 19107877 19919837 20524982 19519916 19383236 19394651 16830150 18210153 18494052 3084413 20432363 18506893 18056438 19701751 16540662 17978847 16681979 18393292 18691550 20514400 21159647 19052882 18978308 19539802 11831363 16779866 20512989 17162532 19822196
MESH:D002294 Carcinoma, Squamous Cell Bleomycin 3.616189445
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9115710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.1718974383
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.7312371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.737505956 21159647 17174075 2727394
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7220734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.7319052882
MESH:D002779 Cholestasis Cyclosporine 2.9519486331
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.8916575769 17688650 8888407
MESH:C538212 Dent disease 1 marker/mechanism
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2020387270
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1317522070 11529661 11421492 12153990 12705907 11461765 12958197 12540782 17906064 14725611 11287661 19739265 14986274 10663392 10915739 19416960 18071297 14550746 16781746 11739529 11834606 12392966 16227642 16081117 19420014 19370779 2444490 17562736 16393943 16109766 11743745 10774834 19085960 16485898 19923254 19164858 15619225 18713872 16177239 15968718 12594235
MESH:D056486 Drug-Induced Liver Injury Amiodarone 9.1318218290 15265979
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.1319107877
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.131733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004421 Dystonia Valproic Acid 4.111851702
MESH:D004487 Edema Bleomycin 4.3017118201
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.2317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.013922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9620417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.637562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.377750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.153659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2116302075
MESH:D005234 Fatty Liver Amiodarone 19.2714986274
MESH:D005234 Fatty Liver Cyclosporine 19.2719224547
MESH:D005234 Fatty Liver Diethylnitrosamine 19.2720387270 21071580
MESH:D005234 Fatty Liver Valproic Acid 19.2714986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 4.9816575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.198888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.2112168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006042 Goiter marker/mechanism 16306076
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006529 Hepatomegaly Amiodarone 3.8215265979
MESH:D006689 Hodgkin Disease Bleomycin 4.4217606976 18501091 15147373
MESH:D006849 Hydrocephalus Valproic Acid 4.9517688650
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006937 Hypercholesterolemia Amiodarone 3.938137927 9751232
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7016612254
MESH:D006980 Hyperthyroidism Methimazole 5.6814678291
OMIM:300554 HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE marker/mechanism
MESH:D007037 Hypothyroidism Amiodarone 12.0618020914 17991464
MESH:D007037 Hypothyroidism Methimazole 12.0618031379
MESH:D007249 Inflammation Bleomycin 8.9617118201
MESH:D007249 Inflammation Diethylnitrosamine 8.9618785209
MESH:D007249 Inflammation Iodine 8.9616001271
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 5.8915629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 5.8918776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 2.7812371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1617596541 16294345
MESH:D008064 Lipidoses Amiodarone 3.5515342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8518665156 18407596 20032147 18522880 19638242
MESH:D008107 Liver Diseases Acetaminophen 6.6919784758 11587558 19460945 16610002 12969438 12587719 19014921 16611625
MESH:D008107 Liver Diseases Diethylnitrosamine 6.6917034775
MESH:D008107 Liver Diseases Lindane 6.691715830
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2916871587 17185352
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 4.8321295105 19389873
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.8320118626 18977376 18978307 19551842 19833225 2862719 16942905 19294768 19427195 2422723 19996281 20101389 15885732 21071580 9163691 20501860 19256749 19254457 20434301 15175105 19850985 18648771 19073162 19090486 19255062 19642983 20583210 10737359 21167192 19690152 20452335 12771043 19812893 20492335 19499222 20405173 19426721 20137499 19638242 18644402 12112319 21278145 18754104 21047994
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 6.2418164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.2418308698 18093689 17174075 19009564 21159647 3124819 19126423 18079962 18164116 16267830 18253720 17942915 18282651 19539802 19004024 18775883 17854601 18544905 16842330 2563599 9362446 19519916
MESH:D008133 Long QT Syndrome Amiodarone 3.6217391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 7.7112587719
MESH:D008171 Lung Diseases Ozone 7.7119066396 8266340
MESH:D017563 Lung Diseases, Interstitial Amiodarone 11.5918516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 11.5917228818
MESH:D055370 Lung Injury Ozone 3.9220417186
MESH:D008175 Lung Neoplasms Bleomycin 3.706189445
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.7021163286 6695378 20970405 20512841
MESH:D008175 Lung Neoplasms Ozone 3.707614698 8597069
MESH:D008325 Mammary Neoplasms, Experimental Iodine 4.7015922087
MESH:D008545 Melanoma Bleomycin 3.2615577320
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D008679 Metaplasia Ozone 5.2010496685
MESH:D008881 Migraine Disorders Valproic Acid 3.2318765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.088888407
MESH:D009181 Mycoses Amiodarone 5.0017974566 12754197
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1817596541
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.599029167 3581430
MESH:D009369 Neoplasms Lindane 3.3912807735 16818664
OMIM:310468 NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE marker/mechanism
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3318481113 19348381
MESH:D009436 Neural Tube Defects Valproic Acid 3.1616359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.3318514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.3320387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2120387270
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4416540662
MESH:D010538 Peritonitis Ozone 4.2016369182
MESH:D011014 Pneumonia Bleomycin 11.7018024389 16317386 17071938
MESH:D011014 Pneumonia Ozone 11.7018929643 18381685 18007984
MESH:D011230 Precancerous Conditions Cyclosporine 9.1012371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.102563599
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.9120603192
MESH:D011471 Prostatic Neoplasms Lindane 4.1612661182 14688026
OMIM:308990 PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS marker/mechanism
MESH:D019310 Pseudolymphoma Valproic Acid 4.6411422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D011654 Pulmonary Edema Bleomycin 5.4115808516
MESH:D011658 Pulmonary Fibrosis Amiodarone 6.2612832656 12490602 11597910
MESH:D011658 Pulmonary Fibrosis Bleomycin 6.2615541506 17434272 12574379 12624602 18008008 11554783 16115399 17241526 21435439 14609568 17177178 16314464 18162602 15322207
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2319155313
MESH:D012559 Schizophrenia Valproic Acid 2.0719110320 15737665
MESH:D012640 Seizures Lindane 6.4612842176 15475178 7539098
MESH:D012640 Seizures Valproic Acid 6.4617978042 11738929 11044598 3137016 14763951 15475178 16876388 1511512
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.1718724381
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8219490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6412833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7518456281
MESH:D013276 Stomach Ulcer Amiodarone 3.3718087811
MESH:D013610 Tachycardia Amiodarone 4.3511238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.2519225199
MESH:D013959 Thyroid Diseases Amiodarone 4.8519731979
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.027505956
MESH:D013971 Thyrotoxicosis Amiodarone 4.9318020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.2711989578 17467628
MESH:D014178 Translocation, Genetic Valproic Acid 5.3317262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.603119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.718888407
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D015431 Weight Loss Bleomycin 5.7212624602
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
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


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