AutismKB 2.0

Annotation Detail for SMARCD1


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Basic Information Top
Gene Symbol:SMARCD1 ( BAF60A,CRACD1,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1
Band: 12q13.12
Quick LinksEntrez ID:6602; OMIM: 601735; Uniprot ID:SMRD1_HUMAN; ENSEMBL ID: ENSG00000066117; HGNC ID: 11106
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200077Glucocorticoid receptor regulatory network
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SMARCD1 mRNAdecreases expression 18648102
D002330 Carmustine Carmustine results in increased expression of SMARCD1 mRNAincreases expression 15980968
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCD1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMARCD1 mRNAincreases expression 11489354
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCD1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001932 Brain Neoplasms Carmustine 4.7816187019
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5616120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.859022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.8516105132 17333356 16919318 17681005 11677210 15861022 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415340226 12621046 15668235 16354765 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.358156756 2524372 11906362 18759878 12868966 8970840 11298694 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.952952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.0018289764 18692083 9653073 7440962 6482804 9328219 11289319 6679447 1440618 16192314 8291058 18648102 9022650
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6216714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005909 Glioblastoma Carmustine 4.1716187019
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716959395 18606429 8697196 16354765 15340226
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4215034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8316984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.503712494 1399818 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008545 Melanoma Carmustine 2.9012393984
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211118676 11399792 11896295 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.196582329 3712494 1399818 7505956 6587162
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35956
  • No data
    No data
    Releated drug ID Related drug Name
    PA449686fluticasone propionate
    PA452347glucocorticoids
    PA449905hydrocortisone
    PA450466methylprednisolone
    PA450541mometasone
    PA164777035paramethasone
    PA451096prednisolone
    PA451100prednisone
    PA164752251rimexolone
    PA451749triamcinolone
    PA448547beclomethasone
    PA164754818betamethasone
    PA448681budesonide
    PA164781399ciclesonide
    PA164776996desonide
    PA449247dexamethasone
    PA449661flunisolide
    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