|
Heart Defects, Congenital
|
|
|
|
594 genes has been reported with Heart Defects, Congenital
|
[Click  to re-sort the table]
|
|
|
|
Meta-analysis Publication
|
MTHFR
|
65
|
10
|
| GATA4
|
46
|
0
|
| NKX2-5
|
37
|
1
|
| FBN1
|
34
|
1
|
| PKP2
|
23
|
0
|
| MTRR
|
21
|
2
|
| TBX1
|
16
|
0
|
| DSP
|
16
|
0
|
| DSG2
|
16
|
0
|
| MTR
|
15
|
2
|
| DSC2
|
14
|
0
|
| NOS3
|
13
|
0
|
| VEGFA
|
13
|
1
|
| TGFBR2
|
12
|
0
|
| F2
|
12
|
1
|
| TBX5
|
11
|
1
|
| MTHFD1
|
11
|
0
|
| PTPN11
|
11
|
0
|
| TBX20
|
11
|
0
|
| CBS
|
10
|
0
|
| F5
|
10
|
1
|
| JAG1
|
9
|
0
|
| ACE
|
9
|
0
|
| GATA6
|
9
|
0
|
| APOE
|
9
|
0
|
| JUP
|
9
|
0
|
| NOTCH1
|
9
|
0
|
| MYH6
|
9
|
0
|
| MYH7
|
8
|
0
|
| NFATC1
|
8
|
0
|
| TGFBR1
|
8
|
0
|
| ISL1
|
8
|
1
|
| DNAH5
|
8
|
0
|
| CYP2C9
|
7
|
0
|
| TGFB1
|
7
|
0
|
| CHD7
|
7
|
0
|
| SLC19A1
|
7
|
0
|
| SOS1
|
6
|
0
|
| RAF1
|
6
|
0
|
| PITX2
|
6
|
0
|
| TCN2
|
6
|
0
|
| TYMS
|
6
|
0
|
| TMEM43
|
6
|
0
|
| DHFR
|
6
|
0
|
| GJA1
|
6
|
0
|
| ZFPM2
|
5
|
0
|
| KCNH2
|
5
|
0
|
| AGTR1
|
5
|
0
|
| GATA5
|
5
|
0
|
| CRELD1
|
5
|
0
|
| TFAP2B
|
5
|
0
|
| HAND1
|
5
|
0
|
| BMPR2
|
5
|
0
|
| SHMT1
|
5
|
0
|
| PLN
|
5
|
0
|
| ABCB1
|
4
|
0
|
| CFC1
|
4
|
0
|
| NNMT
|
4
|
0
|
| MYL2
|
4
|
0
|
| BRAF
|
4
|
0
|
| SCN5A
|
4
|
0
|
| BHMT
|
4
|
0
|
| RFC1
|
4
|
0
|
| MAP2K1
|
4
|
0
|
| ACTC1
|
4
|
0
|
| TGFB2
|
4
|
0
|
| TNNT2
|
4
|
0
|
| ZIC3
|
4
|
0
|
| CITED2
|
4
|
0
|
| COMT
|
4
|
0
|
| EDN1
|
4
|
0
|
| ENG
|
4
|
0
|
| AGT
|
4
|
0
|
| MBL2
|
4
|
0
|
| KCNQ1
|
4
|
0
|
| KRAS
|
4
|
0
|
| GDF1
|
4
|
0
|
| GJA5
|
4
|
0
|
| HRAS
|
4
|
0
|
| GCLC
|
3
|
0
|
| MIR196A2
|
3
|
0
|
| RSPH4A
|
3
|
0
|
| IL6
|
3
|
0
|
| CCDC39
|
3
|
0
|
| CRKL
|
3
|
0
|
| FBN2
|
3
|
0
|
| F13A1
|
3
|
0
|
| CTD
|
3
|
0
|
| ADRB2
|
3
|
0
|
| AVSD1
|
3
|
0
|
| TNNC1
|
3
|
0
|
| TNNI3
|
3
|
0
|
| TPM1
|
3
|
0
|
| TNF
|
3
|
0
|
| TAZ
|
3
|
1
|
| ZEB2
|
3
|
0
|
| DNAH11
|
3
|
0
|
| NRP1
|
3
|
0
|
| MAP2K2
|
3
|
0
|
| RIT1
|
3
|
0
|
| MIR499
|
3
|
0
|
| MYL3
|
3
|
0
|
| MYBPC3
|
3
|
0
|
| NODAL
|
3
|
0
|
| CCDC40
|
3
|
0
|
| NF1
|
3
|
0
|
| ZMYND10
|
2
|
0
|
| PLEC
|
2
|
0
|
| FIGN
|
2
|
0
|
| MESP1
|
2
|
0
|
| PRKAB2
|
2
|
0
|
| MYH11
|
2
|
0
|
| MYLK
|
2
|
0
|
| NDUFB3
|
2
|
0
|
| NPPA
|
2
|
0
|
| RTN4
|
2
|
0
|
| PTEN
|
2
|
0
|
| RYR2
|
2
|
0
|
| ACTA2
|
2
|
0
|
| BMP4
|
2
|
0
|
| SLC6A4
|
2
|
0
|
| CCL2
|
2
|
0
|
| SOD2
|
2
|
0
|
| BMP1
|
2
|
0
|
| TNFSF11
|
2
|
0
|
| ACVRL1
|
2
|
0
|
| RSPH1
|
2
|
0
|
| HAND2
|
2
|
0
|
| GABBR2
|
2
|
0
|
| TBX2
|
2
|
0
|
| TBX3
|
2
|
1
|
| TGFB3
|
2
|
0
|
| NR2F2
|
2
|
0
|
| TNFRSF1A
|
2
|
0
|
| TRAF1
|
2
|
0
|
| VEGF
|
2
|
1
|
| VIP
|
2
|
0
|
| VKORC1
|
2
|
0
|
| AXIN1
|
2
|
0
|
| ADRB1
|
2
|
0
|
| SYT9
|
2
|
0
|
| NKX2-6
|
2
|
0
|
| CYP2D6
|
2
|
0
|
| CYP11B2
|
2
|
0
|
| CYP1A2
|
2
|
0
|
| CYP2C19
|
2
|
0
|
| DES
|
2
|
0
|
| MTHFS
|
2
|
0
|
| ALDH2
|
2
|
0
|
| ELN
|
2
|
0
|
| RSPH9
|
2
|
0
|
| FGA
|
2
|
0
|
| FGF12
|
2
|
0
|
| FLNA
|
2
|
0
|
| RCAN1
|
2
|
0
|
| DNMT1
|
2
|
0
|
| HOXD13
|
2
|
0
|
| APOC3
|
2
|
0
|
| IFNG
|
2
|
0
|
| ITGB3
|
2
|
0
|
| JARID2
|
2
|
0
|
| LMNA
|
2
|
0
|
| MMP9
|
2
|
0
|
| MS
|
2
|
2
|
| MSX1
|
2
|
0
|
| MIR146A
|
2
|
0
|
| SMAD3
|
2
|
0
|
| MGMT
|
2
|
0
|
| MID1
|
2
|
0
|
| MIF
|
2
|
0
|
| DNAI1
|
2
|
0
|
| GART
|
2
|
0
|
| HEY1
|
2
|
0
|
| FOLR1
|
2
|
0
|
| GNB3
|
2
|
0
|
| GSTT1
|
2
|
0
|
| GUSB
|
1
|
0
|
| DNMT3L
|
1
|
0
|
| SERTAD1
|
1
|
0
|
| HAS2
|
1
|
0
|
| CFH
|
1
|
0
|
| ZNRD1
|
1
|
0
|
| NRG1
|
1
|
0
|
| HHEX
|
1
|
0
|
| HIF1A
|
1
|
0
|
| HLA-B
|
1
|
0
|
| HLA-G
|
1
|
0
|
| HMGCR
|
1
|
0
|
| HOXA1
|
1
|
0
|
| HOXB1
|
1
|
0
|
| HOXC4
|
1
|
0
|
| HOXC5
|
1
|
0
|
| HOXC9
|
1
|
0
|
| GP1BA
|
1
|
0
|
| RBM20
|
1
|
0
|
| SLC22A24
|
1
|
0
|
| SLC24A5
|
1
|
0
|
| GPR35
|
1
|
0
|
| GRK4
|
1
|
0
|
| ANK2
|
1
|
0
|
| NR3C1
|
1
|
0
|
| CTNNA3
|
1
|
0
|
| GSTA1
|
1
|
0
|
| GSTA3
|
1
|
0
|
| GSTM1
|
1
|
0
|
| GSTM3
|
1
|
0
|
| GSTP1
|
1
|
0
|
| HES1
|
1
|
0
|
| HSD3B1
|
1
|
0
|
| BIRC2
|
1
|
0
|
| HSD11B1
|
1
|
0
|
| HSD11B2
|
1
|
0
|
| BIRC3
|
1
|
0
|
| HTC2
|
1
|
0
|
| APOA1
|
1
|
0
|
| HTR1A
|
1
|
0
|
| HTR1B
|
1
|
0
|
| HTR2A
|
1
|
0
|
| APOA4
|
1
|
0
|
| APOB
|
1
|
0
|
| HEY2
|
1
|
0
|
| FOLR2
|
1
|
0
|
| LRRC6
|
1
|
0
|
| CFM2
|
1
|
0
|
| BHMT2
|
1
|
0
|
| ALK
|
1
|
0
|
| IL27
|
1
|
0
|
| FRZB
|
1
|
0
|
| ALPL
|
1
|
0
|
| DARC
|
1
|
0
|
| GPX6
|
1
|
0
|
| NIPBL
|
1
|
0
|
| ASF1A
|
1
|
0
|
| NPHP4
|
1
|
0
|
| GATA3
|
1
|
0
|
| FOLH1
|
1
|
0
|
| GGT1
|
1
|
0
|
| GLI1
|
1
|
0
|
| GLRX
|
1
|
0
|
| NPHP3
|
1
|
0
|
| LYPD3
|
1
|
0
|
| FOXP1
|
1
|
0
|
| INVS
|
1
|
0
|
| GPC3
|
1
|
0
|
| MMP1
|
1
|
0
|
| MMP3
|
1
|
0
|
| SMAD7
|
1
|
0
|
| MAT2A
|
1
|
0
|
| MIR149
|
1
|
0
|
| MSX2
|
1
|
0
|
| MT1E
|
1
|
0
|
| EIF2AK4
|
1
|
0
|
| MEF2C
|
1
|
0
|
| MFAP4
|
1
|
0
|
| LOX
|
1
|
0
|
| LPL
|
1
|
0
|
| CYP4F3
|
1
|
0
|
| MIR143
|
1
|
0
|
| MIR218-2
|
1
|
0
|
| MIR27A
|
1
|
0
|
| SMAD1
|
1
|
0
|
| CCDC103
|
1
|
0
|
| HES3
|
1
|
0
|
| LCAT
|
1
|
0
|
| LDLR
|
1
|
0
|
| ARHGDIG
|
1
|
0
|
| LIPC
|
1
|
0
|
| MALAT1
|
1
|
0
|
| KDR
|
1
|
0
|
| Mll2
|
1
|
0
|
| JUN
|
1
|
0
|
| KARS
|
1
|
0
|
| KCNE1
|
1
|
0
|
| KCNJ2
|
1
|
0
|
| KCNJ4
|
1
|
0
|
| KCNJ6
|
1
|
1
|
| KCNN3
|
1
|
0
|
| IL8
|
1
|
0
|
| IL10
|
1
|
0
|
| IL10RA
|
1
|
0
|
| IL12A
|
1
|
0
|
| IGF1
|
1
|
0
|
| ITGA2
|
1
|
0
|
| HPGD
|
1
|
0
|
| SYT10
|
1
|
0
|
| IDUA
|
1
|
0
|
| APOC2
|
1
|
0
|
| IGF2
|
1
|
0
|
| CYR61
|
1
|
0
|
| APP
|
1
|
0
|
| Nr1d2
|
1
|
0
|
| FAS
|
1
|
0
|
| IL1A
|
1
|
0
|
| IL1B
|
1
|
0
|
| IL1RN
|
1
|
0
|
| IL4
|
1
|
0
|
| IL5
|
1
|
0
|
| TRDMT1
|
1
|
0
|
| DNMT3A
|
1
|
0
|
| Myh6
|
1
|
0
|
| Nkx2-5
|
1
|
0
|
| Notch1
|
1
|
0
|
| Notch2
|
1
|
0
|
| Nsd1
|
1
|
0
|
| NQO1
|
1
|
0
|
| DLX6
|
1
|
0
|
| EP300
|
1
|
0
|
| EPHX1
|
1
|
0
|
| EPRS
|
1
|
0
|
| ERBB3
|
1
|
0
|
| ERBB4
|
1
|
0
|
| ERCC5
|
1
|
0
|
| ESR1
|
1
|
0
|
| ETS1
|
1
|
0
|
| EDN2
|
1
|
0
|
| EDNRA
|
1
|
1
|
| Ptprj
|
1
|
0
|
| AHR
|
1
|
0
|
| EIF4EBP2
|
1
|
0
|
| CADM4
|
1
|
0
|
| DVL2
|
1
|
0
|
| AGTR2
|
1
|
0
|
| Pou5f1
|
1
|
0
|
| ABCA1
|
1
|
0
|
| CYFIP1
|
1
|
0
|
| FLT4
|
1
|
0
|
| FMO1
|
1
|
0
|
| FMO3
|
1
|
0
|
| FMO5
|
1
|
0
|
| AHCYL2
|
1
|
0
|
| SIRT1
|
1
|
0
|
| FGFR1
|
1
|
0
|
| GPC5
|
1
|
0
|
| Zfpm2
|
1
|
0
|
| Zic3
|
1
|
0
|
| FOXF1
|
1
|
0
|
| SMG1
|
1
|
0
|
| CAMTA2
|
1
|
0
|
| FGF8
|
1
|
0
|
| FGF10
|
1
|
0
|
| JMJD1C
|
1
|
1
|
| F7
|
1
|
0
|
| Ryr1
|
1
|
0
|
| DUSP1
|
1
|
0
|
| FBLN1
|
1
|
0
|
| FBLN2
|
1
|
0
|
| PDLIM5
|
1
|
0
|
| LEFTY1
|
1
|
0
|
| Ift140
|
1
|
0
|
| CETP
|
1
|
0
|
| CFL2
|
1
|
0
|
| MTHFD2
|
1
|
0
|
| CFTR
|
1
|
0
|
| KCNQ1OT1
|
1
|
0
|
| PTPRT
|
1
|
1
|
| CAPN10
|
1
|
0
|
| BVES
|
1
|
0
|
| LDB3
|
1
|
0
|
| WDHD1
|
1
|
0
|
| CHRNA4
|
1
|
0
|
| Adam17
|
1
|
0
|
| CTHRC1
|
1
|
0
|
| Ahr
|
1
|
0
|
| APOA5
|
1
|
0
|
| ADD1
|
1
|
0
|
| Ate1
|
1
|
0
|
| CMA1
|
1
|
0
|
| DNAAF1
|
1
|
0
|
| Chrd
|
1
|
0
|
| COL3A1
|
1
|
0
|
| SPATA17
|
1
|
0
|
| COL6A1
|
1
|
0
|
| COL6A2
|
1
|
0
|
| COL9A1
|
1
|
0
|
| Vcan
|
1
|
0
|
| Cyp1a1
|
1
|
0
|
| Cyp1a2
|
1
|
0
|
| Cyp1b1
|
1
|
0
|
| Cyp2e1
|
1
|
0
|
| TRIM71
|
1
|
0
|
| Elk1
|
1
|
0
|
| CPS1
|
1
|
0
|
| NAT2
|
1
|
0
|
| Srcap
|
1
|
0
|
| HCN4
|
1
|
0
|
| MIR302F
|
1
|
0
|
| LOC100507266
|
1
|
1
|
| SLC25A13
|
1
|
0
|
| RNF41
|
1
|
0
|
| DHCR7
|
1
|
0
|
| DHCR24
|
1
|
0
|
| CYP2C8
|
1
|
0
|
| DDC
|
1
|
0
|
| PRICKLE2
|
1
|
0
|
| DEFB1
|
1
|
0
|
| CYP17A1
|
1
|
0
|
| DARS
|
1
|
0
|
| DYX1C1
|
1
|
0
|
| ZFPM1
|
1
|
0
|
| CYP2E1
|
1
|
0
|
| CYP3A4
|
1
|
0
|
| CYP3A5
|
1
|
0
|
| CYP11A1
|
1
|
0
|
| CYP11B1
|
1
|
0
|
| Ephx1
|
1
|
0
|
| CREB1
|
1
|
0
|
| CRHR1
|
1
|
0
|
| CSF1R
|
1
|
0
|
| A2ML1
|
1
|
0
|
| RBFOX3
|
1
|
0
|
| CYBA
|
1
|
0
|
| CYP1A1
|
1
|
0
|
| HFE2
|
1
|
0
|
| CTNNB1
|
1
|
0
|
| ADRA2A
|
1
|
0
|
| Foxf1a
|
1
|
0
|
| CUX1
|
1
|
0
|
| PPM1K
|
1
|
0
|
| EPPK1
|
1
|
0
|
| GPR98
|
1
|
0
|
| RPAIN
|
1
|
0
|
| FKBP6
|
1
|
0
|
| CAT
|
1
|
0
|
| OFD1
|
1
|
0
|
| MINA
|
1
|
1
|
| PARP10
|
1
|
0
|
| ALG10
|
1
|
0
|
| IKBKAP
|
1
|
0
|
| ABCC11
|
1
|
0
|
| TCAP
|
1
|
0
|
| PDXK
|
1
|
1
|
| RWS
|
1
|
0
|
| FZD3
|
1
|
0
|
| ZFHX4
|
1
|
0
|
| MROS
|
1
|
0
|
| PTGES2
|
1
|
0
|
| SHOC2
|
1
|
0
|
| CSRP3
|
1
|
0
|
| FGF23
|
1
|
0
|
| TMEM121
|
1
|
0
|
| MFAP5
|
1
|
0
|
| SSPN
|
1
|
0
|
| MLL2
|
1
|
0
|
| JHDM1D
|
1
|
1
|
| SMC1A
|
1
|
0
|
| BAT2
|
1
|
0
|
| BAT3
|
1
|
0
|
| ZBTB16
|
1
|
0
|
| Ehmt1
|
1
|
0
|
| LSL
|
1
|
0
|
| IL1R2
|
1
|
0
|
| WNT5A
|
1
|
0
|
| XRCC1
|
1
|
0
|
| XRCC3
|
1
|
0
|
| YWHAE
|
1
|
0
|
| TRAF2
|
1
|
0
|
| TTN
|
1
|
0
|
| HIRA
|
1
|
0
|
| TWIST1
|
1
|
0
|
| TOP2A
|
1
|
0
|
| TNFRSF1B
|
1
|
0
|
| TNFAIP3
|
1
|
0
|
| TGFBR3
|
1
|
0
|
| NKX2-1
|
1
|
0
|
| TLL1
|
1
|
0
|
| TLR4
|
1
|
0
|
| TERC
|
1
|
0
|
| LEFTY2
|
1
|
0
|
| TCF21
|
1
|
0
|
| TCP1
|
1
|
0
|
| TDGF1
|
1
|
0
|
| TBX6
|
1
|
0
|
| TBX15
|
1
|
0
|
| GTF2IRD1
|
1
|
0
|
| GDF3
|
1
|
0
|
| AKAP12
|
1
|
0
|
| CD44
|
1
|
0
|
| MAML1
|
1
|
0
|
| ROCK2
|
1
|
0
|
| TBX4
|
1
|
0
|
| PTGES
|
1
|
0
|
| CHD1L
|
1
|
0
|
| KIAA0196
|
1
|
0
|
| CDH1
|
1
|
0
|
| ABCG2
|
1
|
0
|
| GSTO1
|
1
|
0
|
| NAT1
|
1
|
0
|
| ACVR1
|
1
|
0
|
| TBX18
|
1
|
0
|
| HTR3B
|
1
|
0
|
| GGTLC1
|
1
|
0
|
| CCDC164
|
1
|
0
|
| TRADD
|
1
|
0
|
| ADAM18
|
1
|
0
|
| RUNX1
|
1
|
0
|
| AKR1C3
|
1
|
0
|
| SERPINA6
|
1
|
0
|
| KAT2B
|
1
|
0
|
| ALDH1A2
|
1
|
0
|
| FOXH1
|
1
|
0
|
| SIX1
|
1
|
0
|
| BMP2
|
1
|
0
|
| PDIA2
|
1
|
0
|
| SNAI2
|
1
|
0
|
| SMARCA2
|
1
|
1
|
| SMARCA4
|
1
|
0
|
| BMPR1A
|
1
|
0
|
| Bbs2
|
1
|
0
|
| ST2
|
1
|
0
|
| SOX9
|
1
|
0
|
| FOXL2
|
1
|
0
|
| RARS
|
1
|
0
|
| REXO4
|
1
|
0
|
| SCNN1A
|
1
|
0
|
| PRDM16
|
1
|
0
|
| SELP
|
1
|
0
|
| SOX17
|
1
|
0
|
| SFTPB
|
1
|
0
|
| SFTPD
|
1
|
0
|
| DNAI2
|
1
|
0
|
| SGCG
|
1
|
0
|
| SHH
|
1
|
0
|
| PTGER1
|
1
|
0
|
| PTGER2
|
1
|
0
|
| PTGER4
|
1
|
0
|
| PTGFR
|
1
|
0
|
| PTGIS
|
1
|
0
|
| PTGS1
|
1
|
0
|
| PTGS2
|
1
|
0
|
| SMURF1
|
1
|
0
|
| SALL4
|
1
|
0
|
| VANGL2
|
1
|
0
|
| PRODH
|
1
|
0
|
| PSEN1
|
1
|
0
|
| ARHGAP31
|
1
|
0
|
| MIB1
|
1
|
0
|
| PDP2
|
1
|
0
|
| HOMEZ
|
1
|
0
|
| ACTA1
|
1
|
0
|
| PVR
|
1
|
0
|
| QARS
|
1
|
0
|
| BCL6
|
1
|
0
|
| BCL9
|
1
|
0
|
| ROCK1
|
1
|
0
|
| RREB1
|
1
|
1
|
| RRM2
|
1
|
1
|
| RYR1
|
1
|
0
|
| NPPB
|
1
|
0
|
| NTRK3
|
1
|
0
|
| TNFRSF11B
|
1
|
0
|
| ZNF295
|
1
|
0
|
| OPRM1
|
1
|
0
|
| OXT
|
1
|
0
|
| OXTR
|
1
|
0
|
| PAH
|
1
|
0
|
| SERPINE1
|
1
|
0
|
| IRX4
|
1
|
0
|
| PBX3
|
1
|
0
|
| PCM1
|
1
|
0
|
| LEF1
|
1
|
0
|
| ACP6
|
1
|
0
|
| GP6
|
1
|
0
|
| PCSK5
|
1
|
0
|
| PLUNC
|
1
|
0
|
| ATIC
|
1
|
0
|
| NFE2L2
|
1
|
0
|
| NFKB1
|
1
|
0
|
| NOS2
|
1
|
0
|
| NOTCH2
|
1
|
0
|
| ZNF395
|
1
|
0
|
| OSGEP
|
1
|
0
|
| ZNF302
|
1
|
0
|
| AZF1
|
1
|
0
|
| DNAAF2
|
1
|
0
|
| PPP4C
|
1
|
0
|
| MAML3
|
1
|
0
|
| ENOSF1
|
1
|
0
|
| STX18
|
1
|
0
|
| MED9
|
1
|
0
|
| ARMC4
|
1
|
0
|
| PDGFA
|
1
|
0
|
| PDGFRA
|
1
|
0
|
| MED15
|
1
|
0
|
| PGR
|
1
|
0
|
| PLA2G4A
|
1
|
0
|
| PLAGL1
|
1
|
0
|
| PLRG1
|
1
|
0
|
| PLXNA1
|
1
|
0
|
| RIPK4
|
1
|
0
|
| ATRX
|
1
|
0
|
| PPARG
|
1
|
0
|
| RBFOX1
|
1
|
0
|
| HYDIN
|
1
|
0
|
| BCOR
|
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.
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