AutismKB 2.0

Annotation Detail for MBD5


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Basic Information Top
Gene Symbol:MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 )
Gene Full Name: methyl-CpG binding domain protein 5
Band: 2q23.2
Quick LinksEntrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Mental retardation, autosomal dominant 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of MBD5 mRNAdecreases expression 19933214
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MBD5 mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of MBD5 mRNAaffects expression 20382639
C014347 decitabine [decitabine co-treated with trichostatin A] results in decreased expression of MBD5 mRNAaffects cotreatment|decreases expression 17891453
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of MBD5 mRNAdecreases expression 19933214
C012589 trichostatin A [decitabine co-treated with trichostatin A] results in decreased expression of MBD5 mRNAaffects cotreatment|decreases expression 17891453
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3114514962 15322242 11752688
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
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 Benzo(a)pyrene 1.8420146248 17474063
MESH:D001943 Breast Neoplasms decitabine 1.8419208741 18320071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9320419170
MESH:D002294 Carcinoma, Squamous Cell decitabine 4.9319215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15668235 12621046 15340226 8697196
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4216714409 15322242 18230668
MESH:D004701 Endocrine Gland Neoplasms decitabine 15.8319294695
MESH:D004701 Endocrine Gland Neoplasms trichostatin A 15.8319294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5720426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005909 Glioblastoma trichostatin A 4.0218801729
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6919215824
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9310048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.578697196 18606429 15340226 16959395 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007248 Infertility, Male decitabine 3.4017581917
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007938 Leukemia decitabine 3.2118980019 19235587
MESH:D007951 Leukemia, Myeloid decitabine 4.3319117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.4317679729 19010910 18460780 18206229 18704418 19387464
MESH:D015470 Leukemia, Myeloid, Acute trichostatin A 4.4318206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.9818055864
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6620195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520464547 17053015 18816296 6695378 18569708 18520028 20135361 20064080 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D008223 Lymphoma decitabine 3.6419470736
MESH:D008545 Melanoma decitabine 3.8616505122 17785578
MESH:D008545 Melanoma trichostatin A 3.8616505122
OMIM:156200 MENTAL RETARDATION, AUTOSOMAL DOMINANT 1 marker/mechanism
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D009101 Multiple Myeloma decitabine 8.3918172295
MESH:D009101 Multiple Myeloma trichostatin A 8.3918172295
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5418608210 16882708 19157545 19010910
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009369 Neoplasms Benzo(a)pyrene 5.5611141357
MESH:D009369 Neoplasms decitabine 5.5619116145 19470736 17925555
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D010051 Ovarian Neoplasms decitabine 5.5419259094 19331143
MESH:D010051 Ovarian Neoplasms trichostatin A 5.5419331143
MESH:D010190 Pancreatic Neoplasms decitabine 5.9919294695
MESH:D010190 Pancreatic Neoplasms trichostatin A 5.9919294695
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511222880 11118676 11399792 11896295
MESH:D055728 Primary Myelofibrosis decitabine 13.8617616702
MESH:D055728 Primary Myelofibrosis trichostatin A 13.8617616702
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.3917292933
MESH:D011471 Prostatic Neoplasms trichostatin A 3.3918798265 19789329
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.7519155313
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.522093021 20155912
MESH:D013274 Stomach Neoplasms decitabine 2.5219037991
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms decitabine 3.5717967635
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4717053015
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.4717616700 19087683
MESH:D014604 Uveal Neoplasms decitabine 5.4317785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134924244
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    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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