AutismKB 2.0

Annotation Detail for CC2D1A


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Basic Information Top
Gene Symbol:CC2D1A ( FLJ20241,FLJ41160,FREUD-1,Freud-1/Aki1,MRT3 )
Gene Full Name: coiled-coil and C2 domain containing 1A
Band: 19p13.12
Quick LinksEntrez ID:54862; OMIM: 610055; Uniprot ID:C2D1A_HUMAN; ENSEMBL ID: ENSG00000132024; HGNC ID: 30237
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Mental retardation, autosomal recessive 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CC2D1A mRNAaffects expression 17562736
C006253 pirinixic acid pirinixic acid results in decreased expression of CC2D1A mRNAdecreases expression 17426115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D000799 Angioedema Acetaminophen 4.9110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.8310977129
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6812594235 17906064 10774834 11421492 19923254 17522070 19370779 12705907 16081117 12958197 16393943 11287661 2444490 14986274 16177239 18071297 19085960 10915739 19164858 14725611 12392966 16227642 11743745 11834606 16485898 12153990 15619225 11529661 16109766 12540782 15968718 16781746 19420014 19739265 18713872 14550746 11739529 11461765 17562736 19416960 10663392
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 5.1719426721
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D005234 Fatty Liver pirinixic acid 3.3119236843 20131406
MESH:D005756 Gastritis Acetaminophen 4.7416983495
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7618467677 16221962 19772884 19176532
MESH:D006930 Hyperalgesia Acetaminophen 3.1116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D007674 Kidney Diseases Acetaminophen 2.4412587719 15629191
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7119014921 16610002 19784758 11587558 19460945 16611625 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.7416871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9515890375 16377806 20007298
MESH:D008546 Melanoma, Experimental Acetaminophen 4.3319513568
OMIM:608443 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3 marker/mechanism
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.3118514411
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D010146 Pain Acetaminophen 2.8216870215
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
MESH:D014581 Urticaria Acetaminophen 3.5810982225
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142672197
  • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    PA161615744Mental Retardation, Autosomal Recessive
    No data
    Drug Bank Top

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    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