AutismKB 2.0

Annotation Detail for CHD7


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Basic Information Top
Gene Symbol:CHD7 ( FLJ20357,FLJ20361,IS3,KAL5,KIAA1416 )
Gene Full Name: chromodomain helicase DNA binding protein 7
Band: 8q12.2
Quick LinksEntrez ID:55636; OMIM: 608765,608892; Uniprot ID:CHD7_HUMAN; ENSEMBL ID: ENSG00000171316; HGNC ID: 20626
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200016Noncanonical Wnt signaling pathway
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Related Diseases/Disorders Top
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Desease Name
Scoliosis, idiopathic 3
Kallmann syndrome 5
Hypogonadotropic hypogonadism
CHARGE syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of CHD7 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of CHD7 mRNAdecreases expression 20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of CHD7 mRNAdecreases expression 19150397
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CHD7 mRNAincreases expression 16214954
C025643 vinclozolin vinclozolin results in decreased expression of CHD7 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 11752688 14514962
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:D001008 Anxiety Disorders vinclozolin 3.9319015723
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 1.8620146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.446135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420889678
MESH:D058747 CHARGE Syndrome marker/mechanism 16615981 21532573
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 15340226 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003456 Cryptorchidism vinclozolin 4.7814966744
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5018551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5118230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5920426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.9116417039
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 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6618606429 16354765 15340226 16959395 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007006 Hypogonadism marker/mechanism
MESH:D007248 Infertility, Male vinclozolin 3.2616467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D017436 Kallmann Syndrome marker/mechanism
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.2816705839
MESH:D007984 Leydig Cell Tumor vinclozolin 5.2716417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 8.017678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.0121137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.0116984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.422876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2620869020 18569708 17053015 18816296 6695378 20064080 20135361 20464547 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2619555203 11884234
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.4018551238 7678174
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7816049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3511896295 11222880 11399792 11118676
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 11.3518042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.4718220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011472 Prostatitis vinclozolin 5.4718629315
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
OMIM:608765 SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3 marker/mechanism
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7618551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9519755658 10029692
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 2,6-dinitrotoluene 5.3516049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3517053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.8610091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
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Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134948695
    • No data
    Releated disease ID Related disease Name
    PA162372808Hypogonadism
    PA446481Kallmann Syndrome
    PA445619Scoliosis
    PA145007176CHARGE syndrome
    No data
    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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