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HP:0001627: Abnormal heart morphologyHPO

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


Correlated Drug Terms (0)

Name (Synonyms) Correlation

Correlated MeSH Terms (2)

Name (Synonyms) Correlation
D006330 Heart Defects, Congenital NIH 0.71
D006331 Heart Diseases NIH 0.71

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 1884
WHCR TCAP DNAI1 COL1A1 COL5A1 IL17RC NAA10 TRNS2 XYLT2 RRM2B OTUD6B MC2R CFC1 ZNF423 MPL NOD2 NKX2-6 CAP2 ZNF469 CEP290 SETD5 PSMD12 NDUFA10 CCDC39 GYG1 SGO1 DNAH11 KCNJ11 PACS1 SETBP1 DES PEX10 ASXL1 HADHA LMNA KIF7 SPAG1 MAP2K1 HADHA CDH23 PTCH2 ERAP1 GATA4 IL17RA DNASE1L3 TGFB3 PIEZO1 ATP6 TMEM70 GMPPB NKX2-5 NFIX KLF1 MED13L NDUFS1 EVC VPS13B LOX ALG9 RAP1B PTPN11 SOS1 EIF2AK3 GLI2 ACTA1 CCDC39 BSCL2 ARMC4 SHOC2 SDHA NDUFS3 ANO5 SMN1 AEBP1 KIAA0556 SMG9 ND3 XRCC2 LARP7 CHRNA1 SLC29A3 ELAC2 GDF1 STAMBP ACTA1 COX6B1 TCOF1 HSPG2 KDM5B ABCC9 BIN1 MLH1 AEBP1 RPL10 DNAH11 FCGR2B NDUFS2 TRNS1 H19 PTPN11 ARMC4 RAB23 FBN1 FKTN JAG1 NRAS SYNE1 MYH7 MYL3 GBA HIBCH LDLRAP1 ZIC2 KCNJ8 ANKRD11 FHL1 SYNE2 PIGS USP9X TPM2 GCK MRPS22 B9D2 PAM16 HLA-DPA1 DMD GATA6 FLNA ARL13B IDUA NNT ECHS1 GPX4 MYH7 LDB3 TOP3A SOX4 STRA6 POMT1 ACSL4 CFAP300 CWC27 PNPLA2 CSRP3 FOXF1 PEX16 STK36 CCDC22 TSFM PPP1CB KCNE5 SOX2 CDK10 BRCA1 CFAP298 RERE GATA4 STXBP1 RFWD3 NDUFS2 TGFB3 DTNA LMNA COL7A1 RPS17 TBX1 ABCA1 NBAS TXNRD2 ND5 PEX3 SMAD4 DSP ACADVL GPC3 FKRP ATAD3A LMNA CAV1 ADAT3 DNAAF5 CEP57 PMM2 EXT2 EXT2 SMAD6 FLNA SRY SCN5A FLNC COX7B TPI1 HJV MYLK BCOR EDNRA KBTBD13 EPHB4 MMUT NDUFS7 VIPAS39 PIGA SCN5A VCP SLC17A5 GLI3 GATA6 TKT ARHGAP31 PIEZO2 MAPK1 SLC19A2 TAB2 SNRPB DSC2 KRAS TXNRD2 FAT4 MCIDAS PEX1 FIBP EOGT TRNT SYT1 THOC6 ANKRD11 ZFP57 TAF2 ARMC9 LMBR1 LONP1 NDUFA10 IRF6 TRNC MIF DNAJB13 KCNA1 ZMYND10 TPM2 SALL4 NID1 TRAPPC11 NDUFS1 TRAF3IP2 FBN2 CEP290 RYR1 ND2 LETM1 EYA4 MLYCD SMC3 IFT172 TBX1 GNE NR2F2 NDUFAF3 TTN RBM10 SRCAP GAA CHRM3 TBX4 UBE2T TACO1 DMD RNASEH2B SPAG1 NDUFA9 FLAD1 PIGO SCN2A LMNA EPG5 LDB3 MAP3K20 FBN2 RPS26 JUP FAH CC2D2A COX20 GATA6 FANCE COL2A1 ACAD8 ARF1 HBA1 KIF11 RBM10 GJA1 WDPCP CHD7 RRM2B PTCH1 MYH7 FOXRED1 MAP2K2 TBX1 CHRNG ARCN1 MED13L FGFR1 DNAAF4 ACADL RRAS NOD2 TBC1D24 NDUFV1 SLC19A2 AKT3 BAG3 SETD5 KIF7 POMGNT1 SIK1 WDR60 PRRX1 COA6 NRXN1 CACNA1S HLA-B ADAMTS10 NOTCH2 DACT1 ACTC1 HAMP CBL C1QBP ARID2 BRAF ADAR FN1 GAS1 GTF2E2 FKRP TXNL4A CRYAB TPM2 YY1AP1 TRMT10C SLC25A24 BMPR1A DHCR7 CSPP1 SH3PXD2B RNASEH1 IL23R DNAH1 PMS1 CPT2 SLC25A20 MTFMT FOXC2 COA5 TAB2 GPR101 NDUFS8 ND1 FANCA MSH6 NDUFA13 TTC8 MYH7 NSD2 GTF2H5 SON PIK3CA FANCM LDLR SDHAF1 ARHGAP31 RBM8A PSEN1 CTLA4 BAG3 ZMYND10 RAF1 EPCAM KAT6B TRIP13 UBR1 PEX13 TBX5 MPLKIP MYLK GLI3 HAAO LZTR1 NXN PDHA1 ALG1 CENPE ND5 ATP6V1E1 NDUFB11 TTPA LRP2 PCNT OTUD6B HLA-B GJA1 GTF2I PEX1 COL2A1 SON UPF3B PTPN22 LMNA TFR2 SMAD6 GUSB SLX4 FGFR1 D2HGDH KMT2D NEXN KAT6A PPP2R5D ALG12 SCO1 TNNC1 VWF TAB2 SMAD3 DNAAF6 WDR26 FANCI LYST ABCC9 TRIO MMP1 TANGO2 TBX1 MRPS14 FIG4 LMNA ACTC1 DSE PIK3CA LMNA RPL10 SDHAF1 GPC3 HJV TPM3 PEX16 CACNA1C CPT1A TRNE LRRC6 TTC7A CTU2 HYLS1 MED12 FGFR2 LIMS2 ARL3 NONO MED12 ARX ALG9 MLH3 FMR1 AHI1 CLPB TAF1A GBA TPK1 SEMA3E RERE DMD CCDC103 LMNA TPM1 TP63 SRP54 DOLK GPC4 NXN NOTCH3 PCCB ND5 HEXB TAZ SDHA ABCC9 BCR TMPO TRAF7 SCARB2 DDX59 MAP3K7 GABRD CTBP1 NOTCH1 MYO18B COX3 SIX3 LAMC2 NKX2-1 PEX12 TRNS1 ESS2 DPF2 MKS1 RNU4ATAC IRAK1 JUP SACS DAXX MYBPC3 CRYAB RAF1 TGFBR2 EXOC6B HADHA MYH7 DNAH9 TCTN1 HSD17B10 GATA6 PEX19 SARDH NAGA DES CYTB DNAI1 RSPH3 DPM3 RECQL4 FLNA G6PC3 FAM149B1 ANK1 CDKN1C FLNA COL11A1 GNAO1 EBP TK2 TMEM67 RYR1 KIAA0586 FGF8 RIT1 ATP5F1D TDGF1 SNRPB HNRNPA2B1 PARS2 PPCS FLNA VPS33B LMNA TRNQ TP63 LONP1 COL7A1 TRIM8 COX8A PQBP1 PTF1A KDM6A TGFBR1 FANCE ATP6AP2 MKS1 LAMP2 SLC25A20 ALMS1 TWIST1 TSC1 NDUFS2 MAP3K7 TNNT2 ABCA1 COQ4 NAGA SMC1A HACD1 COX7B PEX7 FANCD2 SOX2 NEK1 GLA CDC42 DSP TERT NDUFA2 MAP1B ABL1 ND1 NAXD FXN GLA SPEG NEK9 FRAS1 SHOC2 DNAAF6 ND6 PHGDH RPL27 SKI PLOD1 FIBP EXT2 GJA1 COMT FBN1 GJA1 WASHC5 MTFMT NAA10 GATA6 TMTC3 TGFBR2 GJA1 FLNC UMPS CDC42 TNNI3 TRNS1 FADD MRPL44 COX1 CFAP298 EXT1 TP63 AHI1 CKAP2L FUCA1 KIAA1109 DNAAF1 SIX3 ND4 TMEM126A GAS2L2 TREX1 NUP107 TRNQ PTPN22 CDK13 MGP C1QA ELN PEX19 TGFB1 CBS LOX COX1 BUB3 H19-ICR NDUFA11 LDB3 RYR1 FANCA DYNC2LI1 NEXN RAI1 PET100 MASP1 CCR1 MAD2L2 GATA5 CCDC103 ERCC2 TRNV PCCA WASHC5 COX14 CSRP3 ACAD9 CEP57 DNAAF5 TLL1 GTPBP3 GSN WNT4 TMEM67 TRNN TTN NDUFV1 LMNA PTPN11 SMARCB1 FGF23 MYL2 CTLA4 RARB IFIH1 CPT1A SLC25A22 HLA-B SF3B4 SDHD JUP ARID1A PQBP1 GJA8 SPECC1L OPA1 CEP55 PHYH ALPK3 KDM6A NDUFAF4 ACTA1 LAMA4 SUFU ABCD4 FOXE3 GDF1 CCNO PIGT NDUFAF1 ALG1 JAG1 PEX26 TAZ ELN ATIC ACADVL INSR SLC25A3 CPT2 SLC12A3 WFS1 CISD2 COA8 SELENON FBN1 POMT1 LIMK1 MRAP TBL2 TRNT1 SPTB TWNK TRNF TGIF1 MSX1 CDC45 ATPAF2 MEIS2 CPLANE1 YY1 FCGR2A FBXL4 AFF4 TNNC1 CLIC2 CLIC2 RASA2 VCL TRNW NDUFAF2 FKTN TMCO1 GMPPB CLCN7 SOS1 HIRA FHL1 PEX7 COX15 CCBE1 SNX14 DCAF8 NEK8 COL18A1 NME8 RAD21 NDUFAF3 KMT2D POLG GATA4 KRAS CHD4 FANCF PLVAP XYLT2 DNAL1 PCCB GJA5 HLA-DPB1 AUTS2 TGDS ELN RLIM SLC35A2 HOXA13 RSPO2 NDUFAF5 COQ7 SIK3 KCNJ11 AGL PBX1 NEXN RPGRIP1L BMPR2 ITGA7 COQ2 HNRNPU TRNK RAI1 TRNL1 KIAA0753 TTC25 SPEF2 TBX2 SYNE1 NDUFS4 MAT2A ATRX SOS2 CCDC174 MYH6 RRAS2 CFAP53 COL3A1 CHST14 AHCY BRF1 PRDM5 PRKAR1A ECE1 CYTB CDH23 SAA1 LBR CEP120 MYH6 ANK1 GATA6 NEB TNXB IRX5 ALMS1 PMS2 MEOX1 GBA HBB TSC2 AIP NKX2-5 SALL4 DSP LETM1 SGCG PUF60 NDUFS4 PSMB8 RAD51C MYMK LARS2 NOTCH3 DNAAF3 EFTUD2 CEP120 SOS2 BCOR PDE6D JAG1 TMEM70 IFT81 IKZF1 GATA6 PSEN2 NUP107 TPM3 GLB1 NDUFA2 EOGT ZEB2 NAGLU CFAP221 B3GALT6 TNXB MLXIPL PGM1 LMNA ADK KCNQ1OT1 POGZ PACS1 CAVIN1 TXNL4A ALX1 TGFBR1 PPARG BAZ1B MYH7 IL12B PRDM16 CHRNG SLC29A3 NDUFV2 ABCC6 SLC22A5 ATP5F1E NDUFS8 CPLX1 YY1AP1 AIP FBN1 BOLA3 SPP1 ROR2 PQBP1 MSH2 FBN1 MYH6 POLR1A POGZ MAP3K7 FOXP1 FLNA LBR BMP2 MYOT MYH6 NIPBL SMAD4 CCDC151 NDUFA1 LRRC6 GJA5 GTF2IRD1 SDHD CREBBP LMNA PRKAR1A PHYH CCDC65 NDUFS7 GATA6 EPG5 PORCN TGFB2 PEX1 MLX B9D1 GATA1 GPR101 VCL MAP2K2 TWNK TTC37 SIX6 BRAF TNNC1 NEU1 DOCK6 RBPJ CLEC7A VPS33A TRNL1 IDH2 TGFB1 VCL NDUFV2 PIEZO2 LACC1 DSE CHKB ZMPSTE24 GBA DNMT3A CCND2 PPP2CA BAG3 LRP5 LMOD1 GBA TMEM43 MYOT ALKBH8 TACO1 RPS20 RPL35A ACTN2 DPH1 BMPR1A DNAAF4 NDUFB11 MYLK2 CHST14 GATA4 DNAI2 DNAH5 TRNK MRPL3 TBX1 PEX11B ND1 DNAH1 MAP2K2 POMT2 SETD2 COL1A2 CAV3 CLCNKB HFE COX2 FASTKD2 ITPA FGFR3 FKTN MID1 MYH11 ACADM FHL1 OTX2 TGDS NDUFA11 SH2B1 DSG1 ND1 NKX2-1 CKAP2L SNIP1 HRAS ACTG2 RPGRIP1 UBE2A NDUFB8 MAF COX7B NSD1 TGFB3 ACADS CEP41 TMEM126B LDB3 MEFV NCAPG2 PIGN DGCR2 CCBE1 HADHA PSEN2 TTR PIK3R2 SMC3 KANSL1 NEK1 RAF1 FBN1 TAZ POLG2 SEC24C TSC1 RAF1 HNRNPA1 RAB3GAP2 FLNA GLI3 ACTC1 CRB2 C1R B3GLCT NF1 AGK FLNA POLG ADAMTS3 PIGN SCN5A TRRAP MMP21 BMP2 FANCC SELENON IFT122 ZNF469 TNFSF11 SDHA SDHB LMNA GNPTAB COL5A2 NDUFA12 BMP2 TBCK SNX10 COG7 MKKS MED25 CHST3 GATAD1 FHL2 NDUFV2 LTBP4 SLC25A4 ERCC4 B3GALT6 LRP2 SGCD ARX DRC1 VPS13A PTPN11 DISP1 AGK PEX5 MAP2K1 ZFPM2 SMARCE1 FIG4 HES7 LAMA4 DNAH5 PRKAG2 GLI1 HPS1 DNASE1 HBA2 DMD ELN LMNA DCHS1 NDUFAF6 FBLN5 COQ9 EMD PIGP PEX10 PKP2 RPL15 MEN1 CHRM3 MEGF8 HADHB HGSNAT MMUT TTC25 GPX4 PEX26 NONO KIAA0586 CASK SLC2A10 DGCR6 RREB1 TWNK SLC19A3 RAF1 FOXRED1 WDPCP FANCC CCDC40 PEX2 XYLT1 NSDHL AMMECR1 COL2A1 PPARG DLL1 SOX9 SBDS GP1BB SH3PXD2B KRAS RAD51C NDUFAF1 ABCC6 LAMP2 ND6 TMEM231 HYLS1 PALB2 UBR1 PRTN3 RECQL4 MEFV PIGL FGFR2 NKX2-6 ABCC9 XYLT1 HOXD13 DSG2 DGCR8 KYNU PKD1L1 TRNF TMEM107 COL3A1 NDUFA6 B3GAT3 DNAJC19 APOB PTEN SMPD1 RSPH4A PRDM16 FLI1 STAT3 COLQ NFE2L2 PEX6 CRYAB CNTNAP2 SKI PIK3R2 TNNI3 CTCF GLI3 CD96 KDM6A PRKAG2 SCO2 PEX2 MYSM1 DNAI2 GJA5 USP8 ND4 ZMPSTE24 COL11A2 NKX2-5 ARFGEF2 GATA4 SMAD3 WNT4 NF1 SPTA1 RERE NDUFS4 MYH11 SGCD ABCC6 COL3A1 GATA5 INTU GSN FANCL PDX1 SDHA PEX14 ATRX FUCA1 NSD2 GMPPB GLRX5 INVS NDUFS6 TTN HADH RAP1A CLIP2 MED12 PEX5 HSD11B2 JUP GYS1 TNNI3 MEOX1 ACVR2B FANCI ACTC1 GNS NDUFB11 TIMMDC1 SHH STAR LMNA FOXH1 TMEM260 CRYAB MYOZ2 TBC1D24 UBAC2 SGSH FBN1 GATA4 NOTCH1 ACAD8 MED13L NFIX NOTCH2 TSC2 IDUA NDUFS8 UBE3B WDR35 RMRP KCNQ1 PEX7 PRKAR1A CCDC22 FLNA POMT1 BCOR ROR2 ERMARD TGFB2 INTU MYH11 TARS1 ATN1 DLD OFD1 PIGV NOTCH2 MYL2 PDSS2 AMMECR1 B9D1 KRAS POLG TNNI3 MYBPC3 MGME1 SDHA TPM1 USP9X PIGN FANCD2 LTBP4 BBS2 TBX5 POMT2 NHLRC2 MIB1 CPLANE1 BRCA2 DLL4 MYPN POMT1 MGME1 EPB42 TRNW PPP1CB RPL11 MYPN RNU4ATAC BCS1L FTO ARID1B APC2 MYPN RSPH9 MYPN PACS2 TRNH ATP6V1A GATAD1 DDX11 RPS19 ARL2BP TBX1 GDF6 ATP6 HCCS NEB KCNJ5 FLNB AIP SGCG PIGT SGCD TBX3 TTN NUBPL TCTN3 ACTA2 RBM20 TBX3 KAT6A PTCH1 PLN HIBCH IL17F DES FAN1 NPHP3 FAS FBN1 RYR2 DPH1 HADH MYPN VPS13B GTPBP3 GATA4 SFTPB FADD TCAP LIPT1 VAC14 GAS8 CFTR PEX16 COL1A1 DSP CRKL TMEM94 SURF1 TNNI3 MYH11 TALDO1 PRDM16 TPM1 POLG PLAGL1 FOXC1 PTCH1 TSC1 AGPAT2 SMC1A MEFV PEX5 PDGFRA SPEG SGCB IGBP1 PEX13 ESCO2 DNAAF2 TRAIP AMMECR1 COQ2 XK CEP104 CPT2 PEX6 YARS2 HYMAI EVC2 PRKAG2 BSCL2 AHCY GATA5 XRCC4 SKI MYH7 IDUA IL12A LRRC56 FOXF1 BUB1 NKX2-5 IGF1R FMR1 SLC25A4 MFAP5 TNNI3K HSPA9 PKD2 COG7 THOC6 MYH7 TRNL1 HYDIN PSMB8 SLC2A10 IL12A-AS1 WFS1 PPA2 NELFA MYH3 GPC4 SMAD4 SUFU MKS1 AMER1 COX10 HDAC8 PEX2 POLA1 ATP6V0A2 BRAF SETBP1 KMT2A NEUROD2 KRAS CRELD1 TGFBR2 NDE1 DNMT3A LZTR1 NEDD4L DVL3 EVC2 SEMA4A UFD1 RNF135 RNASEH2A B3GLCT FGFRL1 HCN4 FGFR1 KDM1A HGD LTBP2 DNAJC21 GDF1 CSNK2A1 FOS TTN TPM3 RBCK1 TNNT2 CACNA1D FBN1 TBX20 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 RSPRY1 IFNG PALB2 FAT4 FCGR2A ND3 C2CD3 CTCF NODAL DSP STAG2 FUT8 ZDHHC9 RAD21 DES RMND1 NSD1 NDUFS2 ARSB CITED2 RAD51 SCN1B COX2 PIGL LTBP3 PEX19 SEMA3E PIGQ SGCB ZIC3 HYMAI NPHP3 ASXL2 SYNE2 EVC SLC25A4 RPL5 ABCG8 MMP2 PLD1 LAMB2 ADNP CCDC151 MRAS SPECC1L LAMA3 MKS1 TCIRG1 STAT4 LRRC56 C2CD3 SPATA5 CSPP1 FKRP NKX2-5 COG1 NRAS NDUFAF4 TRNL1 ASCC1 BTK ND2 RPS6KA3 RAC1 NAA10 HADHB STRADA RPL26 LAMA2 DLD SUFU SCO2 NEBL MGP POMK RNF113A HMGCL FAT4 MYH6 ALX3 TNFRSF1A KIF15 PCCA RPGR RYR1 DNAL1 TNNT2 BRAF ABCC8 FXN AGGF1 PEX14 WARS2 ZMPSTE24 ANKS6 CANT1 TRIM37 DNAAF3 FLNC ABCC8 GPC6 PLN SPECC1L DYNC2LI1 NDUFAF2 FKRP PAX3 SLC25A3 CACNA1D KAT6B NOTCH1 NDUFB9 MYH7 DOLK FOXRED1 NECTIN1 MMP14 PLN PIK3R2 TAPT1 NKX2-5 TMEM216 RFC2 SMAD3 ERBB3 ERCC3 CEP41 STRADA PUF60 ZIC3 STK4 CCNQ KRAS IDS ND6 INPP5E CCDC40 PET100 EP300 ADAMTS10 NEK9 FKTN XYLT2 PEX3 COX15 DSG2 DPM3 GNPTAB CRELD1 TRNW DLL4 NODAL TBX22 GATA4 MICOS13 DNAJC19 PNPLA2 NAGA PTPN14 PMM2 LMNA HLA-DRB1 PAH PPCS KLRC4 TMEM237 MYBPC3 CITED2 SLC30A10 TAF2 PLAGL1 KCNAB2 CHD7 BRAF AGPAT2 HBB ENPP1 MYH7 FGFR2 RIT1 INS LAMB3 ACTN2 SHANK3 CSRP3 CHRND AARS2 GATA3 MPLKIP ALDH18A1 ROBO4 MTO1 OFD1 CPT2 NDUFS3 PIBF1 ACAD9 TCTN2 TKT NSMCE2 TWNK ACTB IFIH1 DNAH9 SLC40A1 POMT2 AFF4 SURF1 TTN SELENON TRIP4 GDF3 KCNH1 BBS1 DNAAF1 EFTUD2 WT1 BRIP1 DSG2 TNNT2 CCDC114 IGF2 NIPBL ANKRD1 ALG8 NKX2-5 PCGF2 ADCY5 TMEM126B LIAS EYA4 HGD TALDO1 BRAF DHCR7 DNAAF2 BUB1B RSPH1 ACTA1 DYSF TPM2 DSP NOTCH1 ATAD3A PRG4 ADCY5 EHMT1 STAT1 TTC37 CCDC114 C4A POR INPP5E PTPN22 TRNK TTR GALNS OFD1 ABHD5 CFAP300 EHMT1 MFAP5 PRRX1 PKD1 SLC4A1 SP110 TMEM43 MGAT2 SKIV2L CXCR4 CLN3 MED25 POLG TCTN2 TPM3 GBE1 CCDC28B SCN1B FOXJ1 TBX1 TLR4 TRNV RBM8A FANCB NDUFB10 NDUFAF5 SMAD4 SGCA MCTP2 IL10 PSEN1 TSC2 PEX11B RBM20 COA8 TCTN3 ZNF148 NKX2-5 CHST3 HAMP STAT4 ARVCF ZNF687 ATP6V0A2 COX3 TFAP2B RNU4ATAC POLR3A PPA2 CDKL5 CCNQ RNASEH2C TBX1 COL5A1 TREX1 NDUFA4 LZTFL1 SLC7A7 HFE CBL MYH8 PUF60 COL1A2 TRNS2 HRAS ZFPM2 FANCG SAMHD1 NKX2-5 WDPCP NR2F2 PRKG1 FLCN MIPEP CITED2 FHL1 FANCB MAP2K1 NPPA KLHL41 EXTL3 KAT6B TMEM216 MYRF KRAS ECHS1 DCHS1 DMD TTC7A HCCS SMARCA4 SLC25A4 SALL1 KAT6B PNKP MRAS NDUFB3 JPH2 PCSK9 SALL1 VPS33A CDON IL6 ABCG5 PEX12 MED12 TRNK A2ML1
Protein Mutations 1
T1405N
SNP 0