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Report for D006330: Heart Defects, Congenital NIH

(Synonyms: Heart Defects, Co, Heart Defects, Cong, Heart Defects, Congenital)

Developed by Shray Alag
Clinical Trial MeSH HPO Drug Gene SNP Protein Mutation


Correlated Drug Terms (0)


Name (Synonyms) Correlation

Correlated MeSH Terms (1)


Name (Synonyms) Correlation
D006331 Heart Diseases NIH 1.00

Correlated HPO Terms (0)


Name (Synonyms) Correlation

There is one clinical trial.

Clinical Trials


1 Impact of Covid-19 in Congenital Heart Disease - COVID-CHD

The ongoing Coronavirus (Covid-19) pandemic has recently generated the first epidemiological data on populations at risk. Currently, the risk factors, recognized for severe forms of Covid-19 infection, are elderly patients (> 70 years), obese patients, patients with chronic renal or respiratory diseases, cardiovascular history (stroke or coronary artery disease), high blood pressure, diabetes, and cancer. The population of congenital heart disease (CHD) might also be at risk, however, no data is available in this group of patients. CHD is the leading cause of birth defects, and as a result of recent medical advances, currently the number of adults with CHD exceeds the number of children, with an increasing prevalence of complex CHD. Approximately 200,000 children and 250,000 adults are living with a CHD in France today. The French Society of Cardiology, coordinator of this study, issued recommendations on March 14, 2020 for the French CHD population on the basis of expert opinions based essentially on the data published in the general population. Nevertheless, there is a need to provide scientific data on the impact of Covid-19 in the pediatric and adult CHD population. This study aims to assess the morbidity, the mortality and the risk factors associated with Covid-19 in patients with CHD in France

NCT04336384 Congenital Heart Disease Covid-19
MeSH:Heart Diseases Heart Defects, Congenital
HPO:Abnormal heart morphology

Primary Outcomes

Description: Prevalence of Covid-19 infection in the overall CHD population

Measure: Prevalence of Covid-19 infection in the overall CHD population

Time: through study completion, an average of 2 weeks

Secondary Outcomes

Description: Prevalence of Covid-19 infection per CHD sub-group

Measure: Prevalence of Covid-19 infection per CHD sub-group

Time: through study completion, an average of 2 weeks

Description: Cardiovascular complications

Measure: Cardiovascular complications

Time: through study completion, an average of 2 weeks

Description: Other complications

Measure: Other complications

Time: through study completion, an average of 2 weeks

Description: Number of deaths

Measure: Number of deaths

Time: through study completion, an average of 2 weeks


HPO Nodes


HP:0001627: Abnormal heart morphology
Genes 1844
LETM1 UBR1 FAT4 NONO CPLANE1 GLI3 IL17RA RNASEH1 MYPN TRNS1 STRA6 PIGL EYA4 SMAD6 WDPCP SLC40A1 GLI1 NDUFAF4 DNAAF4 NDUFB10 EMD LMNA MYH6 C2CD3 NBAS NEDD4L FGF8 GYS1 TXNL4A CTU2 PTCH2 ENPP1 TRMT10C SELENON HSD11B2 GBA RAB23 INPP5E DYNC2LI1 SMAD6 TBX1 POMT2 SFTPB KIAA0586 CAV3 HIRA SLC19A2 GAS8 GBE1 ALG9 CEP57 FKRP MCTP2 NRXN1 FLNC LMNA CHRND NPPA BUB1B TAF1A OPA1 FHL1 SGO1 EXT2 GPX4 SMPD1 GATA6 HLA-DPB1 KAT6B DNAAF1 DMD NDUFS1 MYH7 PET100 MEFV SPAG1 SF3B4 CCDC40 TRAIP IL10 EOGT ACTN2 HAMP BMPR1A DNAH9 MYH7 MC2R EYA4 B3GLCT FCGR2A NDUFAF2 B9D2 IGF2 SH2B1 MED12 TPM2 COL5A1 ECHS1 NONO ATIC SMAD3 ACADS CWC27 TGFBR1 RNU4ATAC SDHAF1 LONP1 DSG2 LDLRAP1 GTF2I CDC45 BMP2 CCNQ TXNRD2 ATP5F1D TMEM126A SLC25A22 SGCG ZNF687 COA8 POMK LRP5 DNMT3A RPS26 VPS33B LMNA JAG1 FOXE3 RECQL4 SMAD4 DLL1 PIK3R2 RNU4ATAC PCCA ND4 SOX4 SDHA ND2 TBX3 SHOC2 JUP MIF C1R NDUFA2 DPF2 SIX3 MRPL3 TRNE GATA6 ATAD3A CHD7 SMAD4 IGBP1 CRB2 DSC2 LZTR1 BRCA1 TAZ ACADVL LETM1 MAP2K2 NDUFB8 FKRP ATP6AP2 TMPO GJA8 GATA3 CC2D2A MYH6 RAF1 HNRNPA2B1 NHLRC2 GPC4 TOP3A LDLR LRRC56 KIAA0586 STK4 NEBL SAA1 MRAP ALG9 TMEM94 NDUFA12 PACS1 MRAS DYSF AGGF1 GYG1 GPR101 GTF2E2 MAP2K1 PIGA SMAD3 TGFB1 GJA1 RNASEH2A DSP TGFBR2 ALG1 TWNK RAD51C FBLN5 DNAI2 MTFMT TTR TPK1 GATA4 NEK9 ARHGAP31 AFF4 FLNA TFAP2B ABHD5 HADHA ALX3 MED13L GLA CCDC114 MYH11 NDUFAF1 SETD5 DYNC2LI1 KCNJ11 SLC30A10 MAP2K2 GATA6 HYLS1 MGME1 KLF1 ATAD3A ATP6 TPM3 RAD51C DDX59 POGZ DNAH11 ANK1 DLD HYDIN COL5A2 DNAH11 MID1 IDH2 PSEN1 TRAPPC11 NDUFB3 APOB CCR1 SON SOS2 ERCC2 PDE6D HBA1 ACAD9 TFR2 FANCD2 GAS1 ATP6V0A2 KMT2D KIF15 TMEM70 SH3PXD2B SOS1 NEXN MYOZ2 ATRX RFC2 TKT TGFBR2 PTEN GATA4 NDUFS3 TRNT HIBCH RSPH4A CSPP1 LBR TRNQ PTPN22 TRNN IDS IL17F ALG12 MEFV FIBP MPLKIP FANCI UMPS KIAA1109 MKKS HLA-DRB1 NSD2 RARB ANKRD1 BSCL2 GATA4 MAD2L2 TRNK TNNI3 TAF2 ARID1A ACTC1 SCN2A MYH11 PRKAR1A NAA10 FANCA NSMCE2 NR2F2 ABL1 HLA-DPA1 LBR ANKRD11 CD96 SLX4 CHRNA1 IDUA STAG2 TAPT1 CEP55 TRNW CLCN7 AIP MKS1 HSPG2 FLNA DNAAF2 PLVAP KMT2D NOTCH1 PPCS TNFRSF1A SMG9 TSC1 MICOS13 SLC25A4 FUT8 WT1 TNNT2 B3GALT6 DNMT3A MYH6 BRAF SLC29A3 TCAP TTN ACTA1 ELN IL6 MLH3 PDSS2 NDUFV1 PLD1 CSRP3 FGFR3 ACSL4 PTPN11 SKI GLI3 VPS13B KANSL1 PALB2 COL3A1 SMAD4 GATA4 KAT6A ABCD4 PRKAG2 ZNF469 TREX1 HOXA13 IGF1R WASHC5 ND3 POLG2 INS TSC2 NDUFS7 WDPCP BUB1 ABCC9 SGCG DOLK ERAP1 MSH6 NOTCH1 PEX12 ZIC2 DOCK6 PIGO SLC25A24 BRAF CRYAB GJA1 EXOC6B FCGR2B TNNC1 ALMS1 KIAA0556 KDM6A ERCC3 PQBP1 EVC GATAD1 CTLA4 MYPN CDK10 CHST3 TRNS1 GNE BRCA2 NDUFS3 RIT1 PBX1 DNAAF3 GPC4 PQBP1 POMT1 EDNRA SCN5A TXNRD2 DAXX GATA6 ACAD8 EOGT DNAJC19 PEX16 ND1 ADAR DNAAF6 TPM2 PEX14 BBS1 SDHA PEX1 NKX2-1 FLAD1 PEX2 SEMA4A FRAS1 GNPTAB C4A NFIX COA6 AGPAT2 SOX2 USP9X CCDC22 FANCC CNTNAP2 MEFV ZNF423 VCL TRNT1 CITED2 EXT1 PLN UBE2T MCIDAS DNAH9 PEX1 MRAS GTF2H5 ND5 GMPPB SBDS ALKBH8 UPF3B ABCG8 BCOR COX15 ND1 TNNT2 GAS2L2 DMD MMP2 FHL2 SGCD PKD1 TERT IDUA HYMAI TAB2 COX2 NUBPL MYLK MAP3K7 TRNQ TBX1 TMEM216 MYH6 KCNA1 LAMA2 ADK KYNU ERCC4 DNAI1 FLNA VIPAS39 PLOD1 SHOC2 NKX2-6 COL7A1 CPT2 GLI3 PLAGL1 CDKL5 SUFU COX3 ZMYND10 FOXF1 NDUFA11 DGCR2 FBN2 RPS17 H19-ICR MYPN SLC7A7 PKD1L1 SELENON PUF60 BMP2 HLA-B NDUFS2 CITED2 TMEM107 IFIH1 TNXB COL5A1 AMMECR1 TBC1D24 COX20 COG7 FANCI FAH NKX2-5 ACTC1 MEN1 FKTN SEC24C TGFB2 DNAAF6 MYH7 ALX1 FUCA1 AIP TWIST1 TSFM PRRX1 FLI1 NEXN MIPEP FBN1 MMP1 FGFR1 SPEF2 CACNA1D NAA10 SACS SNIP1 SPTA1 TDGF1 PEX14 TBX2 GNS FANCA LAMB3 PEX6 PRDM16 FOS LDB3 FOXRED1 LARP7 PDGFRA NDUFAF3 CCDC174 PIEZO2 B9D1 HADHA GATA4 GATA4 HBB NAA10 CAV1 FANCB FGF23 TCOF1 MMUT ARMC9 DTNA POLR3A COG1 POMT2 BCOR KRAS BCOR TACO1 LMNA MSX1 NOTCH2 SEMA3E CEP41 RPL5 TNNC1 AMMECR1 PACS2 FASTKD2 ACVR2B CCDC151 POLR1A NDUFA6 SPP1 RPGRIP1 TP63 ACTC1 KCNE5 RSPH3 SDHAF1 RPGRIP1L DRC1 FGFR2 CPT2 TRNL1 PTPN22 KAT6B COX1 AGL ZEB2 FOXC1 STAR TRNC PCGF2 AHI1 KCNQ1OT1 CLIC2 COQ7 NDUFA13 FANCC D2HGDH NKX2-5 EVC2 NDUFB9 TCAP MEGF8 TGFB2 PLN RREB1 TTPA RNU4ATAC MYL2 LONP1 PLAGL1 GJA1 MYT1 SDHA CCDC22 NECTIN1 SCO1 GDF3 HIBCH CANT1 WDR60 EVC2 GSN PHYH COX10 TMEM126B ATP6V1E1 MAP3K20 PTPN11 TPM2 KAT6B DSG1 KRAS CPLANE1 CLCNKB SKI PRTN3 GMPPB COL3A1 SLC25A4 DNAJC19 FLNA APC2 RIT1 LDB3 NDUFA1 NSD1 CSNK2A1 SMARCA4 NDUFA4 PEX7 TRNW LACC1 SYNE2 RPL11 ND6 CRELD1 SUFU ABCC8 CFAP300 TARS1 TRNV ND4 MYH7 NDUFS8 NKX2-5 WASHC5 NDUFAF3 MMP14 MAP2K2 GBA TACO1 IRX5 SIX6 SLC19A2 LAMA4 ACAD8 TBX1 RBCK1 GTF2IRD1 RAI1 SALL4 ND6 ANK1 KRAS NDUFS7 CACNA1S FLNC SOS1 C1QBP TNNI3 EFTUD2 ATP6V0A2 SGCB SPECC1L FBN1 COL18A1 MGP TRNV NAGA LAMP2 SETD5 ADNP TPI1 GATA6 TAZ AMER1 TBX1 MAP3K7 COL3A1 NDUFAF4 MYBPC3 TPM1 CFAP298 ATP5F1E ATP6 KDM6A FBXL4 GDF1 ADCY5 ROR2 MAP3K7 WNT4 ABCC9 SMC1A CAVIN1 GATA4 GBA GATA4 VCL COX7B COL1A2 TALDO1 FHL1 ZFP57 PPP1CB FANCE SDHD FANCM PRKG1 NEXN BIN1 RAF1 HJV KDM6A SLC22A5 KLHL41 PIBF1 IL12A ARL2BP PSMB8 PDHA1 PEX26 PSEN2 DNAH5 PIGN NCAPG2 ACADL HADH PSEN2 ACADM RAC1 RBM10 TRNF SMAD4 IFIH1 ADCY5 NDUFB11 RPS6KA3 PEX3 DNAAF5 GDF1 BRAF FAT4 NDUFA11 LRP2 ACADVL DLD TNFSF11 STAT3 PTPN22 SLC2A10 TTC37 NSD2 WDR35 DCHS1 TP63 PDX1 NUP107 EFTUD2 FANCE LYST PEX5 RAF1 GPX4 CRKL NKX2-5 TGFB3 CPLX1 SETBP1 NDE1 PRKAG2 BAG3 TPM1 SGCB SPEG RYR1 NOD2 ARFGEF2 FOXJ1 NDUFA10 ZMPSTE24 TMEM260 MYH8 POR PIK3CA SGCA MYH7 XYLT2 NDUFV1 NSD1 MAP2K1 SLC35A2 TRNL1 JPH2 SHH SMC1A PGM1 SCN1B RYR2 CCDC103 LIPT1 NDUFS8 CRYAB FBN1 LRRC56 RAB3GAP2 MRPL44 STAT4 NEK9 IKZF1 KDM5B ATRX ZNF469 LTBP3 CACNA1D RAD21 PEX19 H19 CDC42 UBR1 NEB SCO2 MAPK1 NDUFA9 JUP ANKRD11 LMNA CDH23 EPCAM HSPA9 OFD1 PEX16 PEX7 ROR2 ND3 GLB1 IRAK1 MYL2 MMUT ABCC6 MYO18B BCR NRAS FN1 SON KCNAB2 POMT1 EVC ARL13B FAT4 ITGA7 DDX11 NDUFS4 DSP SAMHD1 RBM8A TMTC3 ARID1B CLPB FLNA MYH7 TRIM37 BTK AGPAT2 PORCN COQ2 LZTFL1 MTFMT POMT2 TGIF1 NDUFV2 TREX1 PHGDH FGFR1 SALL1 TMEM43 RMRP GPR101 WDPCP DOLK CFTR PTPN14 COQ2 FBN1 SLC25A4 HMGCL ZMPSTE24 YY1AP1 ECE1 IFT172 PMM2 GCK DNAAF2 HGD SCN5A PAH OTUD6B FBN2 ARMC4 MYH6 GNAO1 FBN1 NDUFAF5 RSPH1 TNNT2 CBS SLC2A10 SDHA SALL4 MKS1 NDUFV2 DNAL1 IRF6 FTO WFS1 MYH7 RRM2B TRNL1 NKX2-1 CEP290 HOXD13 COX8A SGCD PLN ALG8 MLYCD CFAP298 RBM20 GNPTAB DMD MYPN KAT6B PUF60 TRNF CFAP53 PEX5 EP300 COX14 ATPAF2 ESS2 GLI2 PNPLA2 CYTB MFAP5 SPEG DES PCCB RBPJ STRADA TLL1 KIF11 PEX5 HYLS1 CEP104 MYLK2 NKX2-5 LZTR1 CHRNG SNRPB TGFB3 CDKN1C ARVCF RLIM ABCA1 DGCR6 PIGV TTR TBX5 CITED2 PEX13 MGP RAF1 CHST14 PEX12 JMJD1C ACTB CEP41 CCDC103 ND5 SLC25A3 FCGR2A GJA1 NAGA POLG SUFU SLC25A20 ZIC3 GPC6 DNAL1 DES TTC37 HADHA MAT2A MIB1 GJA5 FLNB PEX2 TPM2 FLNA FOXC2 PMS2 MYPN ACTN2 MPLKIP INPP5E TCTN2 MAF ITPA NNT BCS1L POLG ARCN1 SIX3 BAG3 RMND1 DNAAF5 FANCD2 TMEM237 DES AGK PEX10 NODAL XRCC4 ND1 MSH2 CCNQ FGFR3 SNX10 CHD4 MAP2K1 ZIC3 COQ9 JAG1 NDUFAF5 WHCR CTLA4 PEX11B KRAS RPS20 USP8 PRKAR1A DCAF8 MEIS2 ACTG2 COL1A1 PSMB8 POLG CHRM3 TRAF7 FGFR1 SGSH LRRC6 TNNI3 CCDC40 ABCC8 RERE PEX16 CSRP3 DGCR8 CCBE1 DSP ACTC1 JUP FANCL FLNA LMNA COX3 FOXF1 RBM10 DSP MASP1 LIAS NF1 ALDH18A1 INVS COL2A1 HLA-B COX2 ARX SOX9 DNAJC21 RRM2B MAP1B DES GPC3 ND5 TRIM8 POLG COG7 VCL DLL4 ADAMTS10 FOXRED1 HRAS FGFR2 HACD1 ALG1 ABCC6 PPARG GATA5 BMP2 G6PC3 NXN CSPP1 COL7A1 PHYH EPG5 SETD2 HJV RASA2 DNAAF3 TXNL4A MYH3 CCDC151 NKX2-5 PSMD12 NRAS RFWD3 ARL3 HYMAI IFT81 TCTN1 HADHB RAF1 CSRP3 HLA-B RAP1A GSN PCNT ATN1 BMPR1A NDUFS4 XK TWNK CCDC65 SIK1 FKTN GJA5 SLC25A20 PIGL TGFBR1 STAT4 COL11A2 GBA SMARCE1 DVL3 ZFPM2 EBP KIF7 XYLT2 CCBE1 EPG5 FLNA SLC29A3 MRPS14 CCDC39 PEX3 GBA NAXD GATAD1 BMPR2 LRRC6 CFC1 PQBP1 INTU STAT1 MED13L FGFRL1 CACNA1C RAD21 TRIP13 GLA B3GLCT NOTCH2 TBX20 RAP1B COQ4 HAMP TMCO1 TTN TNXB THOC6 ELN ALPK3 FLCN BOLA3 PALB2 HADHA TGFB3 PKD2 NAGLU ELN HCCS RPL26 PNPLA2 HDAC8 IL23R VPS13B HCCS PIK3CA NOTCH2 B3GALT6 ND6 DSE PPARG PKP2 TTC25 NOTCH3 MYOT KRAS LMNA TTC25 KBTBD13 LOX LOX UFD1 EIF2AK3 NOTCH1 NEB DMD TAZ HGD ARMC4 RYR1 DSG2 MYH7 CHST3 FADD CXCR4 RBM8A CASK LRP2 LMNA RAF1 XYLT1 PEX13 ESCO2 CFAP221 EHMT1 NF1 FMR1 DNAI2 TTC8 CCDC114 TMEM70 TRRAP LTBP4 KCNH1 SOX2 POLA1 NKX2-6 SLC25A4 PPP1CB TCTN2 VPS33A CISD2 NID1 PAX3 CCNO DCHS1 CHRM3 B9D1 PEX11B FADD CLIC2 SLC4A1 SELENON RNASEH2B RPS19 RSPH9 NEK8 ATP6V1A PRRX1 TCTN3 COX7B AIP PPA2 AHCY PIK3R2 LTBP2 TMEM126B GATA6 DPH1 VAC14 SCARB2 TAB2 GATA5 POMT1 SCO2 TANGO2 CCDC39 UBE2A NPHP3 GATA6 PIGS TRNK ACTA2 TGDS FKTN PNKP UBAC2 POMGNT1 SDHB AKT3 HBB PET100 COL1A1 PPP2CA STAMBP ERMARD TGFBR2 RECQL4 MYMK MYBPC3 NDUFS2 GUSB SLC25A3 VCP SP110 B3GAT3 PTCH1 GATA1 ABCC9 STXBP1 EPHB4 RPL35A TBC1D24 SPAG1 NIPBL TNNI3 CRELD1 DPM3 CRYAB DSG2 ARF1 TTN CDON DNAH1 NSDHL FKRP SURF1 DHCR7 COLQ HBA2 TBX5 SLC19A3 WNT4 MYL3 MYH7 PEX19 AEBP1 CFAP300 HNRNPA1 MTO1 SMC3 RRAS2 COL11A1 DISP1 CENPE SH3PXD2B COX6B1 CPT2 LMOD1 COX15 MFAP5 NOD2 SARDH FANCF GMPPB ND2 HEXB CRYAB LARS2 GLRX5 FKRP SURF1 IL12B TMEM43 SDHD MLXIPL BRAF CDH23 CLIP2 DPM3 CTBP1 HCN4 PARS2 PRG4 MYH7 PRDM5 SHANK3 BRAF AARS2 SCN5A ELAC2 NDUFS2 MMP21 SRP54 CLN3 YY1AP1 TBL2 ALMS1 DNASE1 DNAAF4 SLC17A5 NPHP3 DNAI1 IL12A-AS1 TSC1 LMBR1 MKS1 FANCG IDUA HSD17B10 ADAMTS10 MEOX1 ARID2 GALNS FXN SPTB NKX2-5 COX1 ASCC1 JUP MYBPC3 MED12 MYOT LAMB2 COMT CLEC7A FXN SKI GPC3 COA5 SRCAP IFT122 TBX22 MGAT2 TWNK LMNA MEIS2 SPECC1L HFE TRNH PEX10 PIEZO2 NDUFB11 MPL NUP107 NDUFA10 CHKB PACS1 DMD TRNK TRNL1 CEP120 MYH11 CPT1A KMT2A RAD51 NDUFS1 GABRD GP1BB SKIV2L VPS13A ZDHHC9 MRPS22 KIAA0753 NDUFS4 ACAD9 TTC7A COL2A1 POLG NEK1 TRNS1 TK2 STK36 TPM1 BRAF ASXL1 PRDM16 OFD1 XRCC2 FIG4 TP63 PCSK9 INTU ANKS6 SYNE1 NIPBL ARX PTPN11 ARSB HAAO CEP120 NDUFS6 PRKAR1A HNRNPU SOS2 LDB3 GATA6 RRAS SPECC1L TRNW TGFB1 AHI1 NOTCH1 LIMS2 C1QA GDF6 TIMMDC1 TSC2 KLRC4 LMNA CTCF TBX1 FOXRED1 ADAMTS3 EPB42 USP9X GLI3 TAB2 GJA5 CKAP2L LMNA POGZ GTPBP3 CEP290 RPL15 FANCB NDUFB11 TMEM216 WARS2 SYNE2 TTN XYLT2 RPGR CREBBP NDUFAF2 LTBP4 NFE2L2 XYLT1 PPCS KCNJ5 FBN1 RYR1 BAZ1B TNNI3 PAM16 EHMT1 KRAS ARHGAP31 COA8 ECHS1 BSCL2 KIF7 MEOX1 MED12 ZMYND10 NXN COL2A1 FHL1 LMNA NEU1 CKAP2L DSP RERE DACT1 DLL4 CHRNG BAG3 GDF1 UBE3B CPT1A RPL27 FGFR2 NME8 IL17RC FAN1 PIGQ FLNC CBL GATA5 SMC3 MYH11 AUTS2 PTPN11 RNF113A PMM2 PEX7 ABCC6 IFNG TWNK ROBO4 PIGP MKS1 TTC7A FBN1 SGCD TRNK MYRF KAT6A PCCB TALDO1 DNAAF1 CDK13 RPL10 AGK JAG1 RBM20 LMNA NEUROD2 PTF1A BRAF TSC1 KRAS FUCA1 LDB3 NDUFS2 OFD1 KCNQ1 TPM3 FBN1 TTN TMEM67 PTCH1 ZFPM2 SIK3 PEX26 BUB3 AMMECR1 ACTA1 NR2F2 MYLK TRAF3IP2 TCTN3 WFS1 ZNF148 SRY DNASE1L3 CAP2 FAM149B1 TPM3 ELN ACTA1 HGSNAT SETBP1 OTX2 TTN BBS2 FOXH1 PIGN KAT6B FMR1 NODAL PMS1 CCND2 TBX4 FIG4 ABCG5 ABCC9 AHCY TSC2 KCNJ11 NDUFA2 GJA1 RYR1 GAA OTUD6B MLH1 TNNI3K TRNS2 ERBB3 LMNA TNNT2 PEX1 FKTN DNAH5 HES7 TNNC1 PIGT ANO5 PRDM16 PIEZO1 PRKAG2 A2ML1 NDUFAF6 LMNA PEX2 NAGA SMARCB1 RSPO2 TRNS2 SYNE1 TMEM67 MED25 TBX3 TPM3 NELFA RNF135 FHL1 NDUFV2 FBN1 NKX2-5 HPS1 KCNJ8 LIMK1 NDUFAF1 CCDC28B MED12 POMT1 TRIP4 DNAH1 PTCH1 FAS DHCR7 TRIO TMEM231 ND1 TLR4 ACTA1 PIGN LAMA3 HFE SLC12A3 SDHA LAMC2 TBX1 LAMP2 ASXL2 FLNA SNRPB NEK1 LAMA4 MGME1 HADH RNASEH2C NKX2-5 NOTCH3 PEX6 ZMPSTE24 PSEN1 COX7B HRAS SEMA3E EXT2 PEX19 SALL1 HADHB CHD7 LMNA BRIP1 TCIRG1 NDUFB11 YARS2 ABCA1 TBX1 PCCA CEP57 VWF DNAJB13 PPA2 TBX1 CPT2 SMN1 DSP PIK3R2 TGDS NDUFS8 SMAD3 MLX
Protein Mutations 1
T1405N
SNP 0