AutismKB 2.0

Annotation Detail for MYBPC3


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Basic Information Top
Gene Symbol:MYBPC3 ( CMH4,DKFZp779E1762,FHC,MYBP-C )
Gene Full Name: myosin binding protein C, cardiac
Band: 11p11.2
Quick LinksEntrez ID:4607; OMIM: 600958; Uniprot ID:MYPC3_HUMAN; ENSEMBL ID: ENSG00000134571; HGNC ID: 7551
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05410Hypertrophic cardiomyopathy (HCM)
hsa05414Dilated cardiomyopathy
Pathway IDPathway Name
Muscle contraction
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Cardiac diseases
H00294Dilated cardiomyopathy (DCM)
H00292Hypertrophic cardiomyopathy (HCM)
Desease IDDesease Name
2075Heart failure
Desease Name
CARDIOVASCULAR
cardiomyopathy
familial hypertrophic cardiomyopathy.
No data
Desease Name
Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D018038 Sodium Selenite Sodium Selenite results in decreased expression of MYBPC3 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D009202 Cardiomyopathies marker/mechanism 19151713
MESH:D002311 Cardiomyopathy, Dilated marker/mechanism
OMIM:115197 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4 marker/mechanism
MESH:D019457 Chromosome Breakage Sodium Selenite 5.6615894690
MESH:D016757 Death, Sudden, Cardiac marker/mechanism 20435227
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.3016285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3915131321
MESH:D007333 Insulin Resistance Sodium Selenite 3.6014714311
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.7614737004
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3218760546
Pathway ID Pathway Name
KEGG:05414 Dilated cardiomyopathy
KEGG:05410 Hypertrophic cardiomyopathy (HCM)
REACT:17044 Muscle contraction
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31351
    • No data
    Releated disease ID Related disease Name
    PA445018Cardiomyopathies
    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


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