Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content
HuGE Navigator|Phenopedia|PHGKB

Phenopedia


Heart Defects, Congenital

We have to retire this site due to some reasons. This site has not longer been updated and some links are not working properly.
588 genes has been reported with Heart Defects, Congenital
[Click Sort to re-sort the table]
Associated Gene
Total Publication
Meta-analysis Publication
    MTHFR Genopedia 63 10
    GATA4 Genopedia 45 0
    NKX2-5 Genopedia 37 1
    FBN1 Genopedia 32 1
    PKP2 Genopedia 23 0
    MTRR Genopedia 20 2
    DSG2 Genopedia 16 0
    DSP Genopedia 15 0
    MTR Genopedia 15 2
    DSC2 Genopedia 14 0
    TBX1 Genopedia 14 0
    NOS3 Genopedia 13 0
    VEGFA Genopedia 13 1
    F2 Genopedia 12 1
    MTHFD1 Genopedia 11 0
    TGFBR2 Genopedia 11 0
    TBX20 Genopedia 11 0
    TBX5 Genopedia 11 1
    PTPN11 Genopedia 11 0
    CBS Genopedia 10 0
    F5 Genopedia 10 1
    ACE Genopedia 9 0
    APOE Genopedia 9 0
    JUP Genopedia 9 0
    GATA6 Genopedia 9 0
    MYH6 Genopedia 8 0
    MYH7 Genopedia 8 0
    JAG1 Genopedia 8 0
    DNAH5 Genopedia 8 0
    NFATC1 Genopedia 8 0
    NOTCH1 Genopedia 7 0
    CHD7 Genopedia 7 0
    TGFB1 Genopedia 7 0
    SLC19A1 Genopedia 7 0
    TGFBR1 Genopedia 7 0
    CYP2C9 Genopedia 7 0
    ISL1 Genopedia 7 0
    DHFR Genopedia 6 0
    TMEM43 Genopedia 6 0
    TYMS Genopedia 6 0
    SOS1 Genopedia 6 0
    TCN2 Genopedia 6 0
    RAF1 Genopedia 6 0
    PITX2 Genopedia 6 0
    BMPR2 Genopedia 5 0
    SHMT1 Genopedia 5 0
    PLN Genopedia 5 0
    CRELD1 Genopedia 5 0
    TFAP2B Genopedia 5 0
    HAND1 Genopedia 5 0
    AGTR1 Genopedia 5 0
    GATA5 Genopedia 5 0
    KCNH2 Genopedia 5 0
    GJA1 Genopedia 5 0
    GJA5 Genopedia 4 0
    GDF1 Genopedia 4 0
    ZFPM2 Genopedia 4 0
    HRAS Genopedia 4 0
    KCNQ1 Genopedia 4 0
    KRAS Genopedia 4 0
    MYL2 Genopedia 4 0
    MBL2 Genopedia 4 0
    CITED2 Genopedia 4 0
    EDN1 Genopedia 4 0
    ENG Genopedia 4 0
    AGT Genopedia 4 0
    ZIC3 Genopedia 4 0
    TNNT2 Genopedia 4 0
    CFC1 Genopedia 4 0
    MAP2K1 Genopedia 4 0
    ABCB1 Genopedia 4 0
    NNMT Genopedia 4 0
    SCN5A Genopedia 4 0
    ACTC1 Genopedia 4 0
    TGFB2 Genopedia 4 0
    BRAF Genopedia 4 0
    RFC1 Genopedia 4 0
    BHMT Genopedia 4 0
    RIT1 Genopedia 3 0
    MIR499 Genopedia 3 0
    TAZ Genopedia 3 1
    MAP2K2 Genopedia 3 0
    CCDC40 Genopedia 3 0
    AVSD1 Genopedia 3 0
    TNF Genopedia 3 0
    TNNC1 Genopedia 3 0
    TNNI3 Genopedia 3 0
    TPM1 Genopedia 3 0
    NRP1 Genopedia 3 0
    DNAH11 Genopedia 3 0
    ZEB2 Genopedia 3 0
    CRKL Genopedia 3 0
    FBN2 Genopedia 3 0
    F13A1 Genopedia 3 0
    CTD Genopedia 3 0
    COMT Genopedia 3 0
    ADRB2 Genopedia 3 0
    MYL3 Genopedia 3 0
    MYBPC3 Genopedia 3 0
    RSPH4A Genopedia 3 0
    IL6 Genopedia 3 0
    CCDC39 Genopedia 3 0
    GCLC Genopedia 3 0
    DNAI1 Genopedia 2 0
    GNB3 Genopedia 2 0
    GART Genopedia 2 0
    FGF12 Genopedia 2 0
    FLNA Genopedia 2 0
    HOXD13 Genopedia 2 0
    APOC3 Genopedia 2 0
    IFNG Genopedia 2 0
    GSTT1 Genopedia 2 0
    ITGB3 Genopedia 2 0
    JARID2 Genopedia 2 0
    MYH11 Genopedia 2 0
    MYLK Genopedia 2 0
    NDUFB3 Genopedia 2 0
    MS Genopedia 2 2
    MMP9 Genopedia 2 0
    MSX1 Genopedia 2 0
    SMAD3 Genopedia 2 0
    MGMT Genopedia 2 0
    MID1 Genopedia 2 0
    MIF Genopedia 2 0
    LMNA Genopedia 2 0
    MIR196A2 Genopedia 2 0
    ADRB1 Genopedia 2 0
    SYT9 Genopedia 2 0
    NKX2-6 Genopedia 2 0
    CYP2D6 Genopedia 2 0
    CYP11B2 Genopedia 2 0
    CYP1A2 Genopedia 2 0
    CYP2C19 Genopedia 2 0
    DES Genopedia 2 0
    MTHFS Genopedia 2 0
    ALDH2 Genopedia 2 0
    ELN Genopedia 2 0
    RSPH9 Genopedia 2 0
    FGA Genopedia 2 0
    HEY1 Genopedia 2 0
    FOLR1 Genopedia 2 0
    RCAN1 Genopedia 2 0
    DNMT1 Genopedia 2 0
    GABBR2 Genopedia 2 0
    ACVRL1 Genopedia 2 0
    HAND2 Genopedia 2 0
    VIP Genopedia 2 0
    TNFSF11 Genopedia 2 0
    RSPH1 Genopedia 2 0
    AXIN1 Genopedia 2 0
    TRAF1 Genopedia 2 0
    TNFRSF1A Genopedia 2 0
    NR2F2 Genopedia 2 0
    VEGF Genopedia 2 1
    VKORC1 Genopedia 2 0
    FIGN Genopedia 2 0
    PRKAB2 Genopedia 2 0
    MESP1 Genopedia 2 0
    RTN4 Genopedia 2 0
    NODAL Genopedia 2 0
    ZMYND10 Genopedia 2 0
    NF1 Genopedia 2 0
    PLEC Genopedia 2 0
    NPPA Genopedia 2 0
    TBX3 Genopedia 2 1
    TGFB3 Genopedia 2 0
    BMP1 Genopedia 2 0
    BMP4 Genopedia 2 0
    SLC6A4 Genopedia 2 0
    CCL2 Genopedia 2 0
    SOD2 Genopedia 2 0
    PTEN Genopedia 2 0
    RYR2 Genopedia 2 0
    ACTA2 Genopedia 2 0
    RARS Genopedia 1 0
    BCL6 Genopedia 1 0
    BCL9 Genopedia 1 0
    ROCK1 Genopedia 1 0
    RREB1 Genopedia 1 1
    RRM2 Genopedia 1 1
    PRDM16 Genopedia 1 0
    SELP Genopedia 1 0
    SOX17 Genopedia 1 0
    SFTPB Genopedia 1 0
    SFTPD Genopedia 1 0
    DNAI2 Genopedia 1 0
    SGCG Genopedia 1 0
    SHH Genopedia 1 0
    PTGER1 Genopedia 1 0
    PTGER2 Genopedia 1 0
    PTGER4 Genopedia 1 0
    PTGFR Genopedia 1 0
    PTGIS Genopedia 1 0
    PTGS1 Genopedia 1 0
    PTGS2 Genopedia 1 0
    ARHGAP31 Genopedia 1 0
    MIB1 Genopedia 1 0
    PDP2 Genopedia 1 0
    HOMEZ Genopedia 1 0
    ACTA1 Genopedia 1 0
    PVR Genopedia 1 0
    QARS Genopedia 1 0
    SOX9 Genopedia 1 0
    FOXL2 Genopedia 1 0
    SNAI2 Genopedia 1 0
    SMARCA2 Genopedia 1 1
    SMARCA4 Genopedia 1 0
    BMPR1A Genopedia 1 0
    SIX1 Genopedia 1 0
    BMP2 Genopedia 1 0
    SCNN1A Genopedia 1 0
    PDIA2 Genopedia 1 0
    LEFTY2 Genopedia 1 0
    TERC Genopedia 1 0
    TCP1 Genopedia 1 0
    TDGF1 Genopedia 1 0
    TCF21 Genopedia 1 0
    TBX6 Genopedia 1 0
    TBX15 Genopedia 1 0
    TBX2 Genopedia 1 0
    Bbs2 Genopedia 1 0
    ST2 Genopedia 1 0
    NPPB Genopedia 1 0
    NTRK3 Genopedia 1 0
    TNFRSF11B Genopedia 1 0
    ZNF295 Genopedia 1 0
    OPRM1 Genopedia 1 0
    OXT Genopedia 1 0
    OXTR Genopedia 1 0
    PAH Genopedia 1 0
    SERPINE1 Genopedia 1 0
    IRX4 Genopedia 1 0
    PBX3 Genopedia 1 0
    LEF1 Genopedia 1 0
    ACP6 Genopedia 1 0
    GP6 Genopedia 1 0
    PCSK5 Genopedia 1 0
    PLUNC Genopedia 1 0
    STX18 Genopedia 1 0
    PLA2G4A Genopedia 1 0
    PLAGL1 Genopedia 1 0
    NOTCH2 Genopedia 1 0
    PDGFA Genopedia 1 0
    PDGFRA Genopedia 1 0
    MED15 Genopedia 1 0
    PGR Genopedia 1 0
    NOS2 Genopedia 1 0
    NFE2L2 Genopedia 1 0
    NFKB1 Genopedia 1 0
    SMURF1 Genopedia 1 0
    SALL4 Genopedia 1 0
    VANGL2 Genopedia 1 0
    AZF1 Genopedia 1 0
    REXO4 Genopedia 1 0
    ZNF302 Genopedia 1 0
    ZNF395 Genopedia 1 0
    PRODH Genopedia 1 0
    PSEN1 Genopedia 1 0
    DNAAF2 Genopedia 1 0
    PPP4C Genopedia 1 0
    MAML3 Genopedia 1 0
    ENOSF1 Genopedia 1 0
    MED9 Genopedia 1 0
    ARMC4 Genopedia 1 0
    OSGEP Genopedia 1 0
    PLRG1 Genopedia 1 0
    PLXNA1 Genopedia 1 0
    RIPK4 Genopedia 1 0
    ATRX Genopedia 1 0
    PPARG Genopedia 1 0
    RBFOX1 Genopedia 1 0
    HYDIN Genopedia 1 0
    BCOR Genopedia 1 0
    BAT2 Genopedia 1 0
    BAT3 Genopedia 1 0
    ZBTB16 Genopedia 1 0
    Ehmt1 Genopedia 1 0
    LSL Genopedia 1 0
    IL1R2 Genopedia 1 0
    TOP2A Genopedia 1 0
    WNT5A Genopedia 1 0
    XRCC1 Genopedia 1 0
    XRCC3 Genopedia 1 0
    YWHAE Genopedia 1 0
    TNFAIP3 Genopedia 1 0
    TGFBR3 Genopedia 1 0
    NKX2-1 Genopedia 1 0
    TLL1 Genopedia 1 0
    TLR4 Genopedia 1 0
    TNFRSF1B Genopedia 1 0
    TRAF2 Genopedia 1 0
    TTN Genopedia 1 0
    HIRA Genopedia 1 0
    TWIST1 Genopedia 1 0
    EPPK1 Genopedia 1 0
    GPR98 Genopedia 1 0
    RPAIN Genopedia 1 0
    FKBP6 Genopedia 1 0
    CAT Genopedia 1 0
    OFD1 Genopedia 1 0
    MINA Genopedia 1 1
    PARP10 Genopedia 1 0
    ALG10 Genopedia 1 0
    IKBKAP Genopedia 1 0
    ABCC11 Genopedia 1 0
    TCAP Genopedia 1 0
    PDXK Genopedia 1 1
    RWS Genopedia 1 0
    FZD3 Genopedia 1 0
    ZFHX4 Genopedia 1 0
    MROS Genopedia 1 0
    PTGES2 Genopedia 1 0
    SHOC2 Genopedia 1 0
    CSRP3 Genopedia 1 0
    FGF23 Genopedia 1 0
    TMEM121 Genopedia 1 0
    MFAP5 Genopedia 1 0
    SSPN Genopedia 1 0
    MLL2 Genopedia 1 0
    JHDM1D Genopedia 1 1
    SMC1A Genopedia 1 0
    NAT1 Genopedia 1 0
    ACVR1 Genopedia 1 0
    TBX18 Genopedia 1 0
    HTR3B Genopedia 1 0
    GGTLC1 Genopedia 1 0
    CCDC164 Genopedia 1 0
    KAT2B Genopedia 1 0
    ALDH1A2 Genopedia 1 0
    FOXH1 Genopedia 1 0
    RUNX1 Genopedia 1 0
    AKR1C3 Genopedia 1 0
    SERPINA6 Genopedia 1 0
    TRADD Genopedia 1 0
    ADAM18 Genopedia 1 0
    ROCK2 Genopedia 1 0
    TBX4 Genopedia 1 0
    PTGES Genopedia 1 0
    CHD1L Genopedia 1 0
    ABCG2 Genopedia 1 0
    GSTO1 Genopedia 1 0
    GTF2IRD1 Genopedia 1 0
    GDF3 Genopedia 1 0
    AKAP12 Genopedia 1 0
    CD44 Genopedia 1 0
    MAML1 Genopedia 1 0
    KIAA0196 Genopedia 1 0
    CDH1 Genopedia 1 0
    TRDMT1 Genopedia 1 0
    DNMT3A Genopedia 1 0
    Myh6 Genopedia 1 0
    Nkx2-5 Genopedia 1 0
    Notch1 Genopedia 1 0
    Notch2 Genopedia 1 0
    Nsd1 Genopedia 1 0
    NQO1 Genopedia 1 0
    EP300 Genopedia 1 0
    EPHX1 Genopedia 1 0
    EPRS Genopedia 1 0
    ERBB3 Genopedia 1 0
    ERBB4 Genopedia 1 0
    ERCC5 Genopedia 1 0
    ESR1 Genopedia 1 0
    ETS1 Genopedia 1 0
    EDN2 Genopedia 1 0
    EDNRA Genopedia 1 1
    Ptprj Genopedia 1 0
    AHR Genopedia 1 0
    EIF4EBP2 Genopedia 1 0
    CADM4 Genopedia 1 0
    DVL2 Genopedia 1 0
    AGTR2 Genopedia 1 0
    Pou5f1 Genopedia 1 0
    ABCA1 Genopedia 1 0
    HEY2 Genopedia 1 0
    FOLR2 Genopedia 1 0
    LRRC6 Genopedia 1 0
    CFM2 Genopedia 1 0
    BHMT2 Genopedia 1 0
    ALK Genopedia 1 0
    IL27 Genopedia 1 0
    FRZB Genopedia 1 0
    ALPL Genopedia 1 0
    DARC Genopedia 1 0
    GPX6 Genopedia 1 0
    NIPBL Genopedia 1 0
    ASF1A Genopedia 1 0
    NPHP4 Genopedia 1 0
    FGF8 Genopedia 1 0
    FGF10 Genopedia 1 0
    JMJD1C Genopedia 1 1
    F7 Genopedia 1 0
    Ryr1 Genopedia 1 0
    DUSP1 Genopedia 1 0
    FBLN1 Genopedia 1 0
    FBLN2 Genopedia 1 0
    PDLIM5 Genopedia 1 0
    LEFTY1 Genopedia 1 0
    Ift140 Genopedia 1 0
    CETP Genopedia 1 0
    CFL2 Genopedia 1 0
    MTHFD2 Genopedia 1 0
    CFTR Genopedia 1 0
    KCNQ1OT1 Genopedia 1 0
    PTPRT Genopedia 1 1
    CAPN10 Genopedia 1 0
    BVES Genopedia 1 0
    LDB3 Genopedia 1 0
    WDHD1 Genopedia 1 0
    CHRNA4 Genopedia 1 0
    Adam17 Genopedia 1 0
    CTHRC1 Genopedia 1 0
    Ahr Genopedia 1 0
    APOA5 Genopedia 1 0
    ADD1 Genopedia 1 0
    Ate1 Genopedia 1 0
    CMA1 Genopedia 1 0
    DNAAF1 Genopedia 1 0
    Chrd Genopedia 1 0
    COL3A1 Genopedia 1 0
    SPATA17 Genopedia 1 0
    TRIM71 Genopedia 1 0
    Elk1 Genopedia 1 0
    CPS1 Genopedia 1 0
    NAT2 Genopedia 1 0
    Srcap Genopedia 1 0
    HCN4 Genopedia 1 0
    MIR302F Genopedia 1 0
    LOC100507266 Genopedia 1 1
    SLC25A13 Genopedia 1 0
    RNF41 Genopedia 1 0
    COL6A1 Genopedia 1 0
    COL6A2 Genopedia 1 0
    COL9A1 Genopedia 1 0
    Vcan Genopedia 1 0
    Cyp1a1 Genopedia 1 0
    Cyp1a2 Genopedia 1 0
    Cyp1b1 Genopedia 1 0
    Cyp2e1 Genopedia 1 0
    DHCR7 Genopedia 1 0
    DHCR24 Genopedia 1 0
    CYP2C8 Genopedia 1 0
    DDC Genopedia 1 0
    PRICKLE2 Genopedia 1 0
    DEFB1 Genopedia 1 0
    CYP17A1 Genopedia 1 0
    DARS Genopedia 1 0
    DYX1C1 Genopedia 1 0
    CYP2E1 Genopedia 1 0
    CYP3A4 Genopedia 1 0
    CYP3A5 Genopedia 1 0
    CYP11A1 Genopedia 1 0
    CYP11B1 Genopedia 1 0
    Ephx1 Genopedia 1 0
    CREB1 Genopedia 1 0
    CRHR1 Genopedia 1 0
    CSF1R Genopedia 1 0
    A2ML1 Genopedia 1 0
    RBFOX3 Genopedia 1 0
    CYBA Genopedia 1 0
    CYP1A1 Genopedia 1 0
    HFE2 Genopedia 1 0
    CTNNB1 Genopedia 1 0
    ADRA2A Genopedia 1 0
    Foxf1a Genopedia 1 0
    CUX1 Genopedia 1 0
    PPM1K Genopedia 1 0
    MIR218-2 Genopedia 1 0
    MIR27A Genopedia 1 0
    SMAD1 Genopedia 1 0
    LOX Genopedia 1 0
    LPL Genopedia 1 0
    CYP4F3 Genopedia 1 0
    MIR143 Genopedia 1 0
    MIR146A Genopedia 1 0
    MIR149 Genopedia 1 0
    MMP1 Genopedia 1 0
    MMP3 Genopedia 1 0
    SMAD7 Genopedia 1 0
    MAT2A Genopedia 1 0
    MEF2C Genopedia 1 0
    MFAP4 Genopedia 1 0
    MSX2 Genopedia 1 0
    MT1E Genopedia 1 0
    EIF2AK4 Genopedia 1 0
    ATIC Genopedia 1 0
    JUN Genopedia 1 0
    KARS Genopedia 1 0
    KCNE1 Genopedia 1 0
    KCNJ2 Genopedia 1 0
    KCNJ4 Genopedia 1 0
    KCNJ6 Genopedia 1 1
    KCNN3 Genopedia 1 0
    CCDC103 Genopedia 1 0
    HES3 Genopedia 1 0
    LCAT Genopedia 1 0
    LDLR Genopedia 1 0
    ARHGDIG Genopedia 1 0
    LIPC Genopedia 1 0
    MALAT1 Genopedia 1 0
    KDR Genopedia 1 0
    Mll2 Genopedia 1 0
    IL8 Genopedia 1 0
    IL10 Genopedia 1 0
    IL10RA Genopedia 1 0
    IL12A Genopedia 1 0
    IGF1 Genopedia 1 0
    ITGA2 Genopedia 1 0
    IGF2 Genopedia 1 0
    CYR61 Genopedia 1 0
    APP Genopedia 1 0
    Nr1d2 Genopedia 1 0
    FAS Genopedia 1 0
    IL1A Genopedia 1 0
    IL1B Genopedia 1 0
    IL1RN Genopedia 1 0
    IL4 Genopedia 1 0
    IL5 Genopedia 1 0
    GUSB Genopedia 1 0
    DNMT3L Genopedia 1 0
    SERTAD1 Genopedia 1 0
    HAS2 Genopedia 1 0
    CFH Genopedia 1 0
    ZNRD1 Genopedia 1 0
    NRG1 Genopedia 1 0
    HHEX Genopedia 1 0
    HIF1A Genopedia 1 0
    HLA-B Genopedia 1 0
    HLA-G Genopedia 1 0
    HMGCR Genopedia 1 0
    HOXA1 Genopedia 1 0
    HOXB1 Genopedia 1 0
    HOXC4 Genopedia 1 0
    HOXC5 Genopedia 1 0
    HOXC9 Genopedia 1 0
    HPGD Genopedia 1 0
    SYT10 Genopedia 1 0
    IDUA Genopedia 1 0
    APOC2 Genopedia 1 0
    HES1 Genopedia 1 0
    HSD3B1 Genopedia 1 0
    BIRC2 Genopedia 1 0
    HSD11B1 Genopedia 1 0
    HSD11B2 Genopedia 1 0
    BIRC3 Genopedia 1 0
    HTC2 Genopedia 1 0
    APOA1 Genopedia 1 0
    HTR1A Genopedia 1 0
    HTR1B Genopedia 1 0
    HTR2A Genopedia 1 0
    APOA4 Genopedia 1 0
    APOB Genopedia 1 0
    CYFIP1 Genopedia 1 0
    FMO1 Genopedia 1 0
    FMO3 Genopedia 1 0
    FMO5 Genopedia 1 0
    AHCYL2 Genopedia 1 0
    SIRT1 Genopedia 1 0
    FGFR1 Genopedia 1 0
    GPC5 Genopedia 1 0
    Zfpm2 Genopedia 1 0
    Zic3 Genopedia 1 0
    FOXF1 Genopedia 1 0
    SMG1 Genopedia 1 0
    GATA3 Genopedia 1 0
    FOLH1 Genopedia 1 0
    GGT1 Genopedia 1 0
    GP1BA Genopedia 1 0
    RBM20 Genopedia 1 0
    SLC22A24 Genopedia 1 0
    SLC24A5 Genopedia 1 0
    GPR35 Genopedia 1 0
    GRK4 Genopedia 1 0
    ANK2 Genopedia 1 0
    NR3C1 Genopedia 1 0
    CTNNA3 Genopedia 1 0
    GSTA1 Genopedia 1 0
    GSTA3 Genopedia 1 0
    GSTM1 Genopedia 1 0
    GSTM3 Genopedia 1 0
    GSTP1 Genopedia 1 0
    GLI1 Genopedia 1 0
    GLRX Genopedia 1 0
    NPHP3 Genopedia 1 0
    LYPD3 Genopedia 1 0
    FOXP1 Genopedia 1 0
    INVS Genopedia 1 0
    GPC3 Genopedia 1 0
Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number in Phenopedia reflects only the indexed disease term, but the number in the HuGE Literature Finder reflects all text searches of the disease term including the indexed term.
TOP