AutismKB 2.0

Annotation Detail for CLCNKB


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Basic Information Top
Gene Symbol:CLCNKB ( CLCKB,ClC-K2,ClC-Kb,MGC24087,hClC-Kb )
Gene Full Name: chloride channel Kb
Band: 1p36.13
Quick LinksEntrez ID:1188; OMIM: 602023; Uniprot ID:CLCKB_HUMAN; ENSEMBL ID: ENSG00000184908; HGNC ID: 2027
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04966Collecting duct acid secretion
No data
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1790Hyperaldosteronism
2091Hypertension
2207Deafness
Desease Name
CARDIOVASCULAR
blood pressure, arterial hypertension
No data
Desease Name
Bartter syndrome, type 3
Bartter syndrome, type 4, digenic
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of CLCNKB mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CLCNKB mRNAaffects expression 16483693
D017878 4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid 4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid analog results in decreased activity of CLCNKB proteindecreases activity 15167890
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CLCNKB mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CLCNKB mRNAaffects cotreatment|increases expression 17942748
D008456 2-Methyl-4-chlorophenoxyacetic Acid 2-Methyl-4-chlorophenoxyacetic Acid analog results in decreased activity of CLCNKB proteindecreases activity 15167890
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CLCNKB mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:C537653 Bartter syndrome, type 3 marker/mechanism
OMIM:602522 BARTTER SYNDROME, TYPE 4A marker/mechanism
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.541440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.773581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.967505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.649022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6417681005 15861022 16919318 11677210 16105132 17333356 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 15668235 16354765 12621046 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.218970840 2524372 8156756 11906362 11298694 14531868 18759878 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.9418648102 18692083 9328219 8291058 1440618 18289764 9653073 9022650 16192314 6679447 11289319 7440962 6482804
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5715340226 18606429 8697196 16959395 16354765
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.549022650 8074119
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.236582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3815034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8116984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.346587162 598648 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.573581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.726482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11118676 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.121399818 7505956 3712494 6587162 6582329
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.378074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04966 Collecting duct acid secretion
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (e.g. CHD8)

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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