AutismKB 2.0

Annotation Detail for KCTD1


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Basic Information Top
Gene Symbol:KCTD1 ( C18orf5 )
Gene Full Name: potassium channel tetramerisation domain containing 1
Band: 18q11.2
Quick LinksEntrez ID:284252; OMIM: 613420; Uniprot ID:KCTD1_HUMAN; ENSEMBL ID: ENSG00000134504; HGNC ID: 18249
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of KCTD1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of KCTD1 mRNAdecreases expression 20064835
D007657 Ketone Bodies Ketone Bodies results in increased expression of KCTD1 mRNAincreases expression 16807920
D018038 Sodium Selenite Sodium Selenite results in increased expression of KCTD1 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of KCTD1 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8617474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 18670907 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2212621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.0915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 15340226 18606429 8697196 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance Sodium Selenite 3.4914714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7020195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2618520028 20135361 17053015 18816296 6695378 18569708 20869020 20464547 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2619555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311399792 11118676 11222880 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1517292933
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.1518760546
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
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Syndromic Genes

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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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