SNPMiner Trials by Shray Alag


SNPMiner Trials: Mutation Report


Report for Mutation T1405N

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 4 clinical trials

Clinical Trials


1 Carbamoyl-phosphate Synthase Gene Polymorphisms Influencing Plasma L-arginine Concentrations in Preterm Infants

Plasma L-arginine concentrations are decreased in premature infants with necrotizing enterocolitis (NEC). A carbamoyl-phosphate synthetase 1 (CPS1) polymorphism has been correlated with low plasma concentrations of L-arginine in neonates (> 35 weeks of gestation). Recently Moonen et al (Pediatr Res 2007; 62(2):188-90) described a correlation between this CPS1 T1405N single nucleotide polymorphism (SNP) and the presence of NEC in VLBW infants. However there is no data about the correlation between the plasma arginine concentrations and the T1405N SNP in the CPS-1 gene in VLBW infants. In the present project we postulate that T1405N SNP in the CPS-1 gene is associated with lower plasma arginine concentrations and is also a risk factor for the development of NEC.

NCT00554866 Infant, Very Low Birth Weight Other: blood sample and buccal swab sample
MeSH: Birth Weight

Recently Moonen et al (Pediatr Res 2007; 62(2):188-90) described a correlation between this CPS1 T1405N single nucleotide polymorphism (SNP) and the presence of NEC in VLBW infants. --- T1405N ---

However there is no data about the correlation between the plasma arginine concentrations and the T1405N SNP in the CPS-1 gene in VLBW infants. --- T1405N ---

In the present project we postulate that T1405N SNP in the CPS-1 gene is associated with lower plasma arginine concentrations and is also a risk factor for the development of NEC. the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations. --- T1405N ---

In the present project we postulate that T1405N SNP in the CPS-1 gene is associated with lower plasma arginine concentrations and is also a risk factor for the development of NEC. the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations. --- T1405N --- --- T1405N ---

To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC. --- T1405N ---

A C-to-A nucleotide transversion (T1405N) in the gene that encodes carbamoyl-phosphate synthetase 1 (CPS1), the rate-limiting enzyme in the urea cycle, has been correlated with low plasma concentrations of L-arginine in neonates (> 35 weeks of gestation). --- T1405N ---

In the present project we postulate that T1405N SNP in the CPS-1 gene is associated with lower plasma arginine concentrations and is also a risk factor for the development of NEC. --- T1405N ---

Primary Outcomes

Measure: the association between the T1405N SNP in the CPS-1 gene and lower plasma L-arginine concentrations

Time: 2 years

Secondary Outcomes

Measure: To determine whether the T1405N SNP in the CPS-1 gene is associated with a higher risk of NEC

Time: 4 years

2 A Phase III Single-Blind, Randomized, Placebo Controlled, Clinical Trial to Determine the Safety and Efficacy of Intravenous L-Citrulline Versus Placebo in Children Undergoing Cardiopulmonary Bypass

This clinical trial will determine the safety and effectiveness of intravenous L-citrulline in children undergoing cardiopulmonary bypass during heart surgery. Participants will be randomly assigned to either L-citrulline or a placebo (a substance that has no medicine in it). Citrulline is a protein building block in the body that can convert into another substance, nitric oxide (NO), which controls blood pressure in the lungs. Increased blood pressure in the lungs can be an important surgical problem; it may also lead to problems following surgery, such as severe high blood pressure in the lungs (pulmonary hypertension), increased time spent on a breathing machine, and a longer stay in the intensive care unit (ICU). The hypothesis of this study is that perioperative supplementation with intravenous citrulline will increase plasma citrulline, arginine and NO metabolites and prevent elevations in the postoperative PVT leading to a decrease in the duration of postoperative invasive mechanical ventilation.

NCT00335244 Heart Defects, Congenital Hypertension, Pulmonary Drug: L-citrulline Drug: Placebo of intravenous L-citrulline
MeSH: Hypertension, Pulmonary Congenital Abnormalities Heart Defects, Congenital
HPO: Abnormal heart morphology Pulmonary arterial hypertension

Finally, a genetic single nucleotide polymorphism (SNP) in the rate limiting urea cycle enzyme (carbamyl phosphate synthetase I [CPSl T1405N]) appeared to affect postoperative plasma arginine levels and PVT. --- T1405N ---

Primary Outcomes

Measure: Duration of postoperative mechanical ventilation in hours compared between treatment groups.

Time: Measured in hours from the end of surgery until extubation

Secondary Outcomes

Measure: Incidence of increased PVT (defined as a sustained mean pulmonary artery pressure greater than 20 mm Hg for at least 2 hours, measured during the first 48 hours

Time: Measured in hours from the end of surgery until extubation

Measure: Postoperative intravenous inotrope score

Time: Measured at 48 hours

Measure: Length and volume of chest tube drainage

Time: Measured in hours from the end of surgery until removal of chest tubes

Measure: Length of ICU stay

Time: Measured in hours from the end of surgery to discharge from ICU

Measure: Length of hospitalization

Time: Measured from the day of surgery until discharge from hospital

Measure: Survival

Time: Measured at 30 days post surgical repair

3 Phase I/II Clinical Trial to Determine the Pharmacokinetics and Safety Profile of Citrulline in Children Undergoing Cardiopulmonary Bypass

This study will determine the pharmacokinetics and safety of intravenous citrulline given to children undergoing cardiopulmonary bypass for the correction of congenital heart defects.

NCT00201214 Cardiovascular Diseases Heart Diseases Heart Defects, Congenital Drug: Citrulline
MeSH: Cardiovascular Diseases Heart Diseases Congenital Abnormalities Heart Defects, Congenital
HPO: Abnormal heart morphology Abnormality of the cardiovascular system

Finally, a genetic single nucleotide polymorphism (SNP) in the rate limiting urea cycle enzyme (carbamyl phosphate synthetase I [CPSl T1405N]) appeared to affect postoperative plasma arginine levels and PVT. --- T1405N ---

Primary Outcomes

Measure: Oxygen index (OI) data to assess increased PVT

Time: Measured through the use of continuous mean arterial pressure monitoring

Measure: Qp:Qs ratios to assess increased PVT

Time: Measured by blood gases collected 48 hours post-operative

Measure: Increased PVT as measured by a sustained mean pulmonary artery pressure greater than 20 mm Hg for at least 2 hours during the first 24 hours postoperatively

Time: Measured through the use of continuous mean arterial pressure monitoring 48 hours post-operative

4 Phase IB Double Blind, Randomized, Placebo Controlled Clinical Trial to Determine the Pharmacokinetics and Safety of a Revised Protocol of Intravenous L-Citrulline (Citrupress®) Versus Placebo in Children Undergoing Cardiopulmonary Bypass

This clinical trial will determine the safety and effectiveness of intravenous L-citrulline in children undergoing cardiopulmonary bypass during heart surgery. Participants will be randomly assigned to either L-citrulline or a placebo (a substance that has no medicine in it). Citrulline is a protein building block in the body that can convert into another substance, nitric oxide (NO), which controls blood pressure in the lungs. Increased blood pressure in the lungs can be an important surgical problem; it may also lead to problems following surgery, such as severe high blood pressure in the lungs (pulmonary hypertension), increased time spent on a breathing machine, and a longer stay in the intensive care unit (ICU). The hypothesis of this study is that perioperative supplementation with intravenous citrulline will increase plasma citrulline, arginine and NO metabolites and prevent elevations in the postoperative PVT leading to a decrease in the duration of postoperative invasive mechanical ventilation. The objective of this study is to determine in a randomized placebo controlled phase IB multicenter clinical trial if a revised protocol of intravenous L-citrulline delivery given perioperatively achieves a plasma citrulline level of > 100 umol/L in children undergoing surgical repair of an atrial septal defect,ventricular septal defect or an atrioventricular septal defect.

NCT01120964 Atrial Septal Defect Ventricular Septal Defect Atrioventricular Septal Defect Drug: Intravenous L-Citrulline Drug: Placebo of Intravenous L-Citrulline
MeSH: Heart Septal Defects Heart Septal Defects, Ventricular Heart Septal Defects, Atrial Endocardial Cushion Defects
HPO: Abnormal cardiac septum morphology Atrial septal defect Atrioventricular canal defect Secundum atrial septal defect Ventricular septal defect

Finally, a genetic single nucleotide polymorphism (SNP) in the rate limiting urea cycle enzyme (carbamyl phosphate synthetase I [CPSl T1405N]) appeared to affect postoperative plasma arginine levels and PVT. --- T1405N ---

Primary Outcomes

Description: Citrulline Blood Levels : 1. Baseline sample in OR prior to Cardiopulmonary Bypass prior to admistration of first bolus of Citrulline or Placebo 2. Immediately after Bolus 1 administered in Operating Room. 3. 30 minutes after separation from Cardiopulmonary Bypass; immediately prior to administration of Bolus 2 and start of continuous infusion of Citrulline or Placebo. 4. Six hours after after start of infusion. 5. 12 hours after start of infusion. 6. 24 hours after start of infusion. 7. 48 hours after start of infusion; or whenever infususion is discontinued if prior to 48 hours.

Measure: To determine if L-citrulline given perioperatively achieves a plasma citrulline level of > 100 umol/L in children undergoing surgical repair of an atrial septal defect, a ventricular septal defect or an atrioventricular septal defect.

Time: Measured in seven blood sample time points from the beginning of surgery until end of IV Citrulline Infusion; at either 48 hours postoperatively or at extubation, whichever comes first.

Secondary Outcomes

Measure: Duration of postoperative mechanical ventilation in hours compared between treatment groups

Time: Measured in hours from the end of surgery until extubation

Measure: Incidence of increased PVT (defined as a sustained mean pulmonary artery pressure greater than 20 mm Hg for at least 2 hours, measured during the first 48 hours

Time: Measured in hours from the end of surgery until extubation

Measure: Postoperative intravenous inotrope score

Time: Measured at 48 hours

Measure: Length and volume of chest tube drainage

Time: Measured in hours from the end of surgery until removal of chest tubes

Measure: Length of ICU stay

Time: Measured in hours from the end of surgery to discharge from ICU

Measure: Length of hospitalization

Time: Measured from the day of surgery until discharge from hospital

Measure: Survival

Time: Measured at 28 days post surgical repair

Description: Age specific mean aterial blood pressrue limits compared between the citrulline and placebo groups will be used to determine significant hypotension.

Measure: The incidence of clinically significant hypotension.

Time: Mean Arterial Blood pressure as continuously monitored postoperatively in the PCCU during Citrulline or Placebo infusion.


HPO Nodes


Abnormal heart morphology
Genes 1050
EPHB4 MKKS TACO1 RPL26 RPL27 ERBB3 CTU2 GLRX5 ABCA1 SLC29A3 ERCC2 RPL35A DGCR6 SF3B4 EYA4 AMER1 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 ESS2 ZMPSTE24 ACADL ACADS MAP1B ACADVL CWC27 DNAJC19 CCDC174 USP9X MAT2A RBM10 SPEG SMC1A TRAIP RPS6KA3 APC2 ACTA1 ACTA2 TMEM216 ACTB ZFP57 MC2R NAA10 ACTC1 ACTG2 TCIRG1 EVC MMP21 RPS17 RPS19 IKZF1 RPS20 EXT1 KLHL41 EXT2 RPS26 ACTN2 ACVR2B RRAS RREB1 ARID1A SGO1 COLQ ADAR IL17F KLRC4 ADCY5 WARS2 MEFV MEIS2 RYR1 RYR2 TBC1D24 CDC45 MEOX1 FANCA FANCC FANCD2 CITED2 FANCE ADK ACSL4 FAH TTC8 FANCB DACT1 FANCF FANCG SAA1 ARID1B MGAT2 FBN1 FBN2 SALL1 MGP AARS2 ZMYND10 AEBP1 ARHGAP31 FKTN STRADA AGL SCN1B JAG1 RNASEH2C MID1 MIF SCN5A MIPEP ARL13B MIB1 COA5 AHCY GPC4 ALPK3 WDR35 KIAA1109 MLH1 SCO1 CC2D2A KMT2A FGF8 FGFR1 FGFR3 FGFR2 MMP1 MAD2L2 PRKAG2 PIBF1 FHL1 FHL2 DOCK6 POMK LTBP4 SLC30A10 SDHA FOXF1 SDHB ZNF687 FOXC1 SDHD FOXE3 FOXC2 MPL ALX3 TRAF7 TMEM126A FLI1 FLNA FLNB FLNC FRAS1 BIN1 FBLN5 FOXRED1 CCDC22 FMR1 ANK1 FN1 OFD1 NEBL SLC25A4 CISD2 RNASEH2A PTF1A SGCA PUF60 SGCB SGCD SGCG ACAD9 SGSH FOS IFT81 PEX3 CEP290 AGPAT2 RNF135 ARX DOLK SLC19A2 KCNAB2 ARFGEF2 SHH POMGNT1 APOB ARMC9 MSH2 CHD7 FASTKD2 POMT1 TMEM107 TXNRD2 FXN SIX3 FANCM SKI PIGV FAS TCAP CDK10 COA8 ABCC6 RBM20 ARCN1 PEX26 ARF1 RBCK1 STAMBP SLC4A1 EPG5 FAN1 MTFMT LIMS2 TPK1 NBAS PACS1 DNAI1 SETD2 LIPT1 VAC14 ARL3 PIGT MLH3 NDUFAF4 VIPAS39 NPHP3 PIEZO2 TNFSF11 ACAD8 ARSB ATP6 TRNC SLC12A3 COX1 COX2 UBE2T G6PC3 COX3 ARVCF KLF1 CYTB CTCF DYNC2LI1 CDK13 OTUD6B TP63 FLAD1 ANKRD1 ND1 ND2 SLC22A5 ND3 ND4 NAXD MRPS14 PPA2 ND5 ND6 DCHS1 PTCH2 ANKRD11 B9D1 SMARCA4 GATAD1 RSPO2 SMARCB1 AGK FLCN TRNE SMARCE1 TRNF SMN1 NDUFAF6 TRNH IFT122 FUCA1 TRNK ATIC TRNL1 HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV FUT8 TRNW SUFU ERMARD SNRPB MCTP2 PRDM16 STAG2 TRIM37 SLX4 MMUT GAA H19 AFF4 RAI1 MGME1 INVS SON DNAH11 SOS1 MYBPC3 SOS2 ATP5F1D SOX2 ATP5F1E RAB23 GABRD TRAF3IP2 SOX9 UBR1 ATP6V1A KDM5B INTU MYH6 ATP6V1E1 MYH7 MYH8 SPAG1 MYH11 ANKS6 EOGT MYL2 MYL3 GALNS MYLK ATRX CHST14 ERAP1 ZNF423 SPTA1 SPTB TMEM126B PKD1L1 GAS1 NAGA NAGLU HDAC8 GATA1 CPLX1 MAP3K20 GATA3 GATA4 MYOZ2 GATA6 FADD GBA BBS1 BBS2 GBE1 CDH23 SRP54 FGFRL1 TAB2 SRY NKX2-6 GCK POGZ NDUFA2 NDUFA4 PEX11B SRCAP NEB NDUFA9 GDF1 NDUFA10 COQ2 BCR BCS1L NDUFB8 NDUFS1 NDUFS2 NDUFS3 STAR NDUFV1 NDUFS4 STAT1 STAT3 STAT4 NDUFS8 NDUFV2 NOD2 XYLT1 XYLT2 STK4 IFIH1 DNAAF3 GJA1 BMP2 GJA5 NEK1 GJA8 BMPR1A ZNF469 BMPR2 NEU1 TXNL4A NF1 GLA GPC3 NDUFA12 BRCA1 GLB1 TMTC3 BRAF BRCA2 NFE2L2 GLI1 GLI2 NFIX GLI3 ABCC8 SURF1 BTK MYPN SYNE2 HES7 BUB1 BUB1B CFC1 VPS13A C1QBP LRRC56 MYMK SMG9 HYLS1 PACS2 KIAA0556 C4A TAF2 SEMA4A STRA6 MYO18B FOXH1 GTPBP3 MAP3K7 NODAL KCNQ1OT1 TALDO1 MYRF NONO KYNU GNS ABCG5 PIGO ABCG8 NOTCH1 TBX1 ALG1 NOTCH2 TAZ NOTCH3 GP1BB TBX2 TBX5 CACNA1C CACNA1D CACNA1S LIAS NPPA TBX3 SLC25A20 RPGRIP1L NRAS NEDD4L MLX TCOF1 SYNE1 TAF1A ROR2 GPX4 HGSNAT SLC19A3 NSD1 BAZ1B LMBR1 IL17RC TDGF1 SPECC1L AIP CAV1 SIK3 MED13L SLC7A7 ADNP CBL PRDM5 LARS2 NXN CBS TFAP2B OPA1 NR2F2 GSN ZFPM2 POLR3A MLYCD TFR2 CCND2 SIX6 TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 B9D2 TGIF1 MSH6 COL18A1 USP8 GTF2E2 SH3PXD2B LDB3 OTX2 GTF2I SMC3 NKX2-1 IL12A-AS1 TK2 GUSB TKT GYG1 TLL1 GYS1 SCARB2 MRAP TGDS TLR4 PAH DNAI2 FIBP CKAP2L TMPO HAAO HSD17B10 PAX3 HADHA MRPL3 HADHB HADH TNFRSF1A TNNC1 HBA1 PBX1 BUB3 HBA2 POLG2 DNAAF1 TNNI3 KAT6B HBB TNNT2 CDC42 PCCA PCCB NNT CFAP53 HCCS TNXB HACD1 DISP1 TOP3A ATP6V0A2 COX14 PCNT TPI1 TPM1 TPM2 HEXB TPM3 CDKN1C PIGN HFE H19-ICR HGD SDHAF1 TMEM67 TREX1 ASXL1 ARL2BP CFAP300 PDE6D HLA-B PDGFRA MICOS13 PDHA1 HLA-DPA1 HLA-DPB1 ENPP1 CCDC114 HLA-DRB1 CFTR GDF6 PEX1 CLEC7A PEX6 PEX7 DNAJC21 DPM3 PEX10 PEX12 PEX13 PEX14 KCNE5 ANO5 TSC1 TSC2 HMGCL CHD4 LRRC6 WNT4 CHKB TRIP13 TTN LYST HNRNPA1 TTPA CHRM3 TTR TRIP4 HNRNPA2B1 CHRNA1 ELAC2 PGM1 CHRND HNRNPU CHRNG HIRA RNU4ATAC TWIST1 EFTUD2 SLC25A3 SLC2A10 HOXA13 CRELD1 PHYH LONP1 PIGA CLCN7 CLCNKB HOXD13 CLIC2 PIK3CA PIK3R2 CLN3 RAB3GAP2 RECQL4 HPS1 UFD1 A2ML1 PKD1 SNX10 PKD2 PEX16 HRAS GTF2H5 PKP2 LMOD1 ALG8 UMPS PLAGL1 CCR1 IL17RA DGCR8 PLD1 MTO1 FTO TMCO1 GMPPB PLN PLOD1 EIF2AK3 KDM6A NIPBL CCDC151 D2HGDH ALG12 HSPA9 DSE VCL VCP CHST3 COL1A1 PMM2 COL1A2 COL2A1 HJV COL3A1 POMT2 PMS1 SLC25A24 COL5A1 COL5A2 HSPG2 NDUFB11 TRAPPC11 COL7A1 PIGL PMS2 PRRX1 COL11A1 COL11A2 TBX4 VWF MYOT NDUFAF5 POLR1A COMT CCDC103 TAPT1 ADAMTS3 CLIP2 DLL4 FKRP WFS1 WHCR NSD2 NELFA INPP5E RRM2B POLG GNPTAB LZTFL1 NDUFAF3 BAG3 COX6B1 WT1 COX7B COX8A POR COX10 PORCN COX15 TWNK XK SAMHD1 TMEM43 GATA5 IDH2 PPARG XRCC2 CPT1A XRCC4 IDS CPT2 GTF2IRD1 IDUA NSMCE2 GDF3 SP110 CREBBP CFAP298 SLC40A1 SHANK3 SH2B1 CRKL NDUFA11 ZIC2 ZIC3 PPP1CB DNAH1 CRYAB PPP2CA IGBP1 IGF1R IGF2 KANSL1 SEC24C LACC1 CSNK2A1 NEK8 TTC37 SETBP1 RBPJ CEP41 MPLKIP PRKAR1A KBTBD13 NKX2-5 CTBP1 CAVIN1 CTLA4 PRKG1 MAPK1 MAP2K1 MAP2K2 CEP57 NEXN IL6 CRB2 SEMA3E ATPAF2 IL10 CEP104 COX20 LDLRAP1 IL12A IL12B TCTN3 MASP1 DDX59 AHI1 NDUFS7 PRTN3 PLVAP ZNF148 DCAF8 PSEN1 PSEN2 TMEM237 TMEM94 PET100 INS IFT172 PIEZO1 MRPL44 RNF113A KIAA0586 VPS33A PSMB8 PDX1 PTPN22 DAXX TTC25 UPF3B PSMD12 NHLRC2 DNAL1 GPR101 ITGA7 PTCH1 PTEN BCOR NEK9 ZEB2 MRPS22 PHGDH B3GAT3 MKS1 ITPA KIAA0753 FBXL4 NSDHL DDX11 TMEM260 DNAAF5 DES JUP TRMT10C COA6 PTPN11 PTPN14 CEP120 ALMS1 HIBCH CLPB VPS33B CANT1 SACS FIG4 WASHC5 KCNH1 CXCR4 KCNJ5 KCNJ8 DHCR7 KCNJ11 TMEM70 COQ9 PEX19 ABCD4 PEX2 PEX5 KCNQ1 ALDH18A1 DLD RBM8A DMD AMMECR1 SARDH RMND1 TMEM231 TBX20 CPLANE1 HYMAI DNAH5 DNAH9 MED12 DNASE1L3 TCTN1 IL23R KIF11 PCSK9 CDON DNMT3A CCDC40 RAD21 RAD51 TBX22 RAD51C RNASEH2B KRAS RAF1 RPGRIP1 DGCR2 DPH1 SCO2 AKT3 FAT4 PNPLA2 RAP1A PDSS2 RAP1B EVC2 B3GLCT RARB DSC2 RASA2 NUP107 GNE DSG1 HCN4 DSG2 NDUFAF2 DSP COG7 DNAAF4 DTNA PIGS UBE3B KAT6A ASCC1 DVL3 LAMA2 LAMA3 AGGF1 LAMA4 JPH2 WDR60 LAMB2 B3GALT6 LAMB3 ABCC9 LAMC2 SALL4 LAMP2 FANCL PAM16 DPF2 LBR ARMC4 RFC2 ECE1 GPC6 DLL1 CCNQ PQBP1 ECHS1 PPCS SHOC2 SELENON BOLA3 LDLR JMJD1C CCDC39 CSRP3 WDPCP PALB2 LETM1 EDNRA TSFM RFWD3 YARS2 KIF7 CEP55 ESCO2 RIT1 TTC7A ADAMTS10 DNAAF2 NDUFA13 SLC17A5 RMRP SNIP1 FGF23 MFAP5 MLXIPL TNNI3K LIMK1 KMT2D TRNT1 ABHD5 ALX1 NDUFAF1 LMNA MEGF8 SETD5 ZDHHC9 ATAD3A COQ4 CCBE1 ATP6AP2 SBDS LOX FANCI ARID2 ALG9 RLIM MED25 LRP2 EHMT1 LRP5 UBAC2 PIH1D3 YY1AP1 BSCL2 ASXL2 LTBP2 ELN LTBP3 EMD TANGO2 PRG4 EPCAM CSPP1 RPL5 TBL2 CD96 EP300 VPS13B EPB42 RPL10 RPL11 SMAD3 SMAD4 RPL15 TCTN2 SMAD6 MAF
Abnormal cardiac septum morphology
Genes 462
EPHB4 MKKS TACO1 PIGN RPL27 ASXL1 ERBB3 CTU2 SLC29A3 ERCC2 RPL35A DGCR6 SF3B4 AMER1 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 ESS2 ZMPSTE24 PDHA1 CWC27 DNAJC19 CCDC174 USP9X SMC1A TRAIP APC2 GDF6 NAA10 PEX1 ACTC1 PEX6 PEX10 EVC MMP21 PEX12 PEX13 RPS17 PEX14 RPS19 CHD4 EXT2 RPS26 WNT4 ACVR2B RREB1 TRIP13 LYST CHRM3 TRIP4 MEIS2 HNRNPU HIRA RNU4ATAC CDC45 MEOX1 EFTUD2 FANCA FANCC FANCD2 CITED2 FANCE ADK HOXA13 CRELD1 FANCB DACT1 FANCF FANCG LONP1 ARID1B MGAT2 FBN1 FBN2 SALL1 PIGA MGP HOXD13 ARHGAP31 FKTN PIK3CA STRADA PIK3R2 JAG1 RECQL4 UFD1 GPC4 PEX16 HRAS WDR35 GTF2H5 KMT2A ALG8 UMPS PLAGL1 FGFR1 FGFR3 FGFR2 DGCR8 PLD1 MAD2L2 FTO TMCO1 LTBP4 KDM6A NIPBL ALG12 HSPA9 DSE SDHA FOXF1 FOXC1 CHST3 COL1A1 FOXC2 MPL SLC25A24 COL5A1 FLI1 COL5A2 HSPG2 NDUFB11 FLNA FLNB PIGL FOXRED1 COL11A1 COL11A2 TBX4 CCDC22 NDUFAF5 POLR1A ANK1 COMT TAPT1 CLIP2 DLL4 PTF1A PUF60 WHCR NSD2 NELFA IFT81 PEX3 CEP290 ARX SLC19A2 KCNAB2 WT1 COX7B POR PORCN COX15 CHD7 GATA5 XRCC2 FANCM GTF2IRD1 SKI GDF3 CREBBP CDK10 SHANK3 SH2B1 ARCN1 PEX26 CRKL STAMBP ZIC3 PPP1CB MTFMT PACS1 PPP2CA SETD2 LIPT1 VAC14 IGBP1 VIPAS39 NPHP3 PIEZO2 IGF1R KANSL1 SEC24C UBE2T G6PC3 ARVCF CTCF DYNC2LI1 CDK13 OTUD6B TP63 TTC37 SETBP1 ANKRD11 MPLKIP RSPO2 FLCN NKX2-5 SMARCE1 SMN1 CTBP1 NDUFAF6 ATIC RERE MAPK1 FUT8 MAP2K1 SNRPB MAP2K2 CEP57 MCTP2 PRDM16 STAG2 SLX4 AFF4 CRB2 SEMA3E SON SOS1 SOS2 SOX2 RAB23 GABRD UBR1 ATP6V1A TCTN3 KDM5B INTU MYH6 MASP1 ATP6V1E1 MYH7 NDUFS7 EOGT MYL2 ATRX CHST14 TMEM94 PET100 IFT172 PIEZO1 PKD1L1 RNF113A KIAA0586 HDAC8 GATA1 CPLX1 GATA4 GATA6 FADD BBS2 FGFRL1 TAB2 NKX2-6 UPF3B PSMD12 NDUFA2 NDUFA4 PEX11B SRCAP NDUFA9 PTEN BCOR GDF1 NDUFA10 BCR NEK9 ZEB2 NDUFS1 NDUFS2 NDUFS3 PHGDH NDUFV1 NDUFS4 STAT1 B3GAT3 MKS1 NDUFS8 NDUFV2 NSDHL DDX11 XYLT1 TMEM260 XYLT2 STK4 GJA1 BMP2 NEK1 BMPR1A PTPN11 TXNL4A NF1 GLA GPC3 NDUFA12 BRCA1 BRAF BRCA2 VPS33B CANT1 FIG4 WASHC5 NFE2L2 GLI1 NFIX GLI3 SURF1 DHCR7 MYPN BUB1 BUB1B CFC1 PEX19 ABCD4 PEX2 MYMK PEX5 SMG9 HYLS1 PACS2 RBM8A STRA6 AMMECR1 TBX20 MAP3K7 HYMAI NODAL TALDO1 MYRF NONO MED12 PIGO NOTCH1 TBX1 NOTCH2 NOTCH3 KIF11 DNMT3A GP1BB RAD21 TBX2 TBX5 RAD51 TBX22 RAD51C KRAS RAF1 CACNA1C CACNA1D DGCR2 DPH1 TBX3 AKT3 RAP1A RAP1B EVC2 B3GLCT RARB NUP107 DSG1 NDUFAF2 DTNA SYNE1 UBE3B ROR2 KAT6A GPX4 ASCC1 DVL3 SLC19A3 NSD1 AGGF1 BAZ1B WDR60 B3GALT6 SALL4 FANCL SPECC1L DPF2 LBR SIK3 MED13L RFC2 ECE1 GPC6 CCNQ LARS2 PQBP1 ECHS1 SHOC2 NXN TFAP2B JMJD1C WDPCP PALB2 LETM1 NR2F2 TSFM RFWD3 KIF7 CCND2 SIX6 ESCO2 RIT1 TTC7A TGFB3 ADAMTS10 TGFBR1 NDUFA13 RMRP TGFBR2 MLXIPL LIMK1 GTF2E2 KMT2D GTF2I LMNA MEGF8 SMC3 NKX2-1 SETD5 ZDHHC9 TKT CCBE1 FANCI GYG1 ARID2 TLL1 ALG9 TGDS PAH MED25 LRP2 EHMT1 FIBP CKAP2L LRP5 HAAO YY1AP1 BSCL2 ASXL2 LTBP2 PAX3 ELN BUB3 KAT6B CDC42 HCCS RPL5 TBL2 CD96 EP300 VPS13B RPL10 RPL11 SMAD4 ATP6V0A2 RPL15 PCNT
Secundum atrial septal defect
Genes 9
MYH6 GDF1 GATA6 RPL11 NKX2-5 PTF1A NF1 TRIP4 TBX5
Ventricular septal defect
Genes 294
SOX2 MKKS RAB23 TACO1 UBR1 TCTN3 ASXL1 MASP1 ERBB3 CTU2 SLC29A3 ERCC2 RPL35A DGCR6 SF3B4 NDUFS7 AMER1 ERCC3 EOGT ABL1 ESS2 ATRX PDHA1 CWC27 DNAJC19 TMEM94 CCDC174 PET100 IFT172 SMC1A TRAIP PKD1L1 RNF113A GDF6 HDAC8 CPLX1 GATA4 GATA6 NAA10 FADD PEX1 PEX6 PEX10 EVC PEX12 FGFRL1 PEX13 PEX14 TAB2 RPS19 CHD4 EXT2 NDUFA2 RPS26 NDUFA4 WNT4 ACVR2B PEX11B RREB1 NDUFA9 BCOR GDF1 NDUFA10 BCR CHRM3 NEK9 ZEB2 NDUFS1 NDUFS2 NDUFS3 PHGDH NDUFV1 MEIS2 NDUFS4 NDUFS8 NDUFV2 HIRA RNU4ATAC CDC45 MEOX1 EFTUD2 DDX11 CITED2 XYLT1 TMEM260 XYLT2 GJA1 HOXA13 BMP2 NEK1 LONP1 ARID1B PTPN11 MGAT2 FBN1 FBN2 TXNL4A SALL1 GPC3 NDUFA12 MGP BRAF VPS33B CANT1 FIG4 WASHC5 ARHGAP31 PIK3CA GLI1 PIK3R2 GLI3 SURF1 DHCR7 JAG1 UFD1 GPC4 PEX19 PEX16 HRAS PEX2 GTF2H5 PEX5 SMG9 HYLS1 KMT2A UMPS PLAGL1 RBM8A FGFR1 FGFR2 DGCR8 STRA6 FTO HYMAI NODAL TALDO1 MYRF NONO KDM6A NIPBL MED12 TBX1 NOTCH2 SDHA FOXF1 NOTCH3 GP1BB CHST3 RAD21 TBX5 FOXC2 KRAS CACNA1C CACNA1D DGCR2 DPH1 FLI1 NDUFB11 FLNB TBX3 PIGL AKT3 FOXRED1 COL11A2 EVC2 B3GLCT CCDC22 RARB NDUFAF5 COMT TAPT1 NUP107 DSG1 CLIP2 NDUFAF2 DLL4 PUF60 WHCR NSD2 DTNA IFT81 UBE3B PEX3 ROR2 CEP290 KAT6A ARX SLC19A2 DVL3 SLC19A3 WT1 NSD1 COX7B BAZ1B WDR60 PORCN B3GALT6 COX15 SALL4 CHD7 GATA5 SPECC1L LBR RFC2 GTF2IRD1 ECE1 GPC6 LARS2 PQBP1 ECHS1 SHOC2 GDF3 NXN CREBBP TFAP2B JMJD1C SHANK3 PALB2 LETM1 NR2F2 ARCN1 PEX26 CRKL STAMBP ZIC3 PPP1CB MTFMT CCND2 SIX6 ESCO2 RIT1 TTC7A TGFB3 ADAMTS10 NDUFA13 MLXIPL LIMK1 LIPT1 GTF2E2 VAC14 IGBP1 KMT2D VIPAS39 PIEZO2 IGF1R GTF2I KANSL1 SEC24C ARVCF SMC3 NKX2-1 SETD5 DYNC2LI1 CDK13 TKT CCBE1 FANCI OTUD6B TP63 TTC37 TGDS PAH ANKRD11 LRP2 MPLKIP FIBP CKAP2L RSPO2 LRP5 NKX2-5 SMN1 CTBP1 NDUFAF6 YY1AP1 LTBP2 ELN RERE MAPK1 KAT6B MAP2K1 SNRPB CEP57 HCCS RPL5 TBL2 CD96 EP300 VPS13B RPL11 CRB2 SMAD4 RPL15 SEMA3E SOS1
Abnormality of the cardiovascular system
Genes 2040
MKKS TSR2 CTU2 ABCA1 ABCA3 MAK DGCR6 AMER1 ABCA4 LZTR1 ABL1 ESS2 MAN2B1 MANBA ACADL ACADS AICDA MAP1B ACADVL ACAT1 MAPT DNAJC19 USP9X MAT2A RBM10 SMC1A MAX ACP5 ACTA1 ACTA2 ACTB MC1R CD109 MC2R MC4R SCYL1 NAA10 ACTC1 ACTG1 ACTG2 MMP21 MCM4 ACTN4 TRAC CD46 ACTN2 TMEM173 ACVR2B ACVRL1 MDH2 ARID1A SGO1 ADA COLQ ADAR MECP2 KLRC4 ADCY5 MEFV MEIS2 MAP3K1 TBC1D24 BAP1 MEN1 CDC45 MEOX1 FZD4 ADK GFI1B TTC8 ARID1B MGAT2 OTULIN SFTPA2 KITLG MGMT MGP AARS2 AEBP1 COG6 ARHGAP31 AGA AGL JAG1 AGT AGTR1 MID1 MIF AGXT MIPEP ARL13B NR0B1 MIB1 MITF AHCY ALPK3 WDR35 AHR MLH1 CC2D2A KMT2A AK2 AKT1 AKT2 NR3C2 ALAS2 ALB IFT80 MMP1 ALDH3A2 ALDOA DOCK6 ALDOB LTBP4 ALOX12B MOG ZNF687 ALPL MPI MPL ALX3 CUL3 MRE11 BIN1 CCDC22 ANK1 ANK2 OFD1 OSTM1 SLC25A4 ACAD9 IFT81 UVSSA PEX3 KCNAB2 APC ITGA8 IKBKG ELP1 AIRE KIAA1549 BIRC3 RNF213 XIAP APOA1 APOB LIPN MSH2 APOC2 APOE APP FANCM AP3B1 FAS FASLG AQP2 AQP5 SLC7A14 TCAP CDK10 ABCC6 RBM20 ARCN1 ARF1 EPG5 CASK MTFMT WDR19 MST1 SETD2 ARL3 NDUFAF4 TNFSF11 ARSA ARSB MTAP ATP6 ATP8 TRNC COX1 COX2 UBE2T COX3 ARVCF CYTB FEZF1 RANGRF ASAH1 MTHFR ASCL1 CDK13 PDE8B TP63 MTM1 ND1 ND2 ND3 ND4 ND4L ND5 ASS1 ND6 CTNNA3 DCHS1 PTCH2 ANKRD11 GATAD1 RSPO2 ABCB11 FLCN DDRGK1 TRNE SERPINC1 TRNF TRNH TRNK ATIC TRNL1 ATM HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW STX16 STX11 MUC1 TRIM37 ATP5F1A MMUT H19 MVK DNAH11 MYBPC3 ATP5F1D MYC ATP5F1E MYCN MYD88 UBR1 MYF6 ATP6V1A ATP6V1B2 MYH6 ATP6V1E1 MYH7 MYH8 MYH9 MYH11 EED ATP6AP1 MYL2 ATP7A MYL3 MYL4 ATP7B MYLK ATR ATRX MYO5B TNFSF12 AVPR2 MYOC GJB4 B2M PKD1L1 NAGA NAGLU FADD BBS1 BBS2 BBS4 FGFRL1 UNC13D NCF2 NCF4 CCND1 BCL2 NDP SLC25A26 NDUFA2 TNFRSF11A NDUFA4 BCL6 PEX11B NEB NDUFA9 NDUFA10 BCR BCS1L NDUFB8 DPM1 BANF1 NDUFS1 NDUFS2 NDUFS3 NDUFV1 HESX1 NDUFS4 FGF17 NDUFS8 BGN NDUFV2 BLM DNAAF3 BMP2 PROM1 NEK1 NEK2 BMPR1A BMPR2 NEU1 DST NF1 BPGM BRCA1 TMTC3 BRAF BRCA2 NF2 NFIA NFE2L2 BTD NFIX NFKB1 BTK NFKB2 BUB1 CYP26C1 BUB1B SCAPER C1QBP SERPING1 LRRC56 MYMK C1R C1S C2 CACNA1H C4A BCL10 CAPN5 NME1 FOXH1 PHOX2B BRAT1 NODAL MYRF NONO KYNU AP3D1 CFAP410 NOTCH1 NOTCH2 NOTCH3 CA2 CA4 PNP NPC1 NPHP1 NPM1 CACNA1B CACNA1C CACNA1D CACNA1S CACNA2D1 NPPA CACNB2 SLC25A20 PLOD3 NRAS CALM1 CALM2 NRL CALM3 CALR NT5E NTRK1 TAF1A ROR2 NUMA1 BAZ1B CASP8 OAS1 CASP10 CRPPA SEMA5A CASQ2 CASR RIPK4 AIP CAV1 CAV3 PSTPIP1 RUNX1 SLC7A7 SERPINA6 CBL CBS OPA1 CLDN1 TNFRSF11B KRIT1 CCND2 SIX6 TBX19 TBX18 USP8 FCGR2C OTC KLLN OTX2 DPP9 CD19 MS4A1 SMC3 PRPF4 P2RY11 PRPF3 CD27 CD28 SCARB2 PAFAH1B1 DYRK1B PAH CD40 CD40LG TNFRSF13C FIBP CD70 CD79A CD79B CD81 PARN PAX3 PAX6 LRBA PBX1 BUB3 DNAAF1 CDC42 PCCA PCCB HACD1 PCNA CDK4 PCNT XPR1 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D H19-ICR SDHAF1 TMEM67 LRAT CDSN PDE3A PDE6A PDE6C PDE6D CRLF1 PDE6G PDE6H PDGFB PDGFRA PDE6B CENPF PDGFRB PDHA1 SCARF2 ENPP1 CFTR GDAP1 PEPD BLNK PEX1 PEX6 PEX7 DPM3 PEX10 SOX18 PEX12 PEX13 PEX14 CHD4 ATP8B1 WNT4 CHKB CHN1 TRIP13 TRIP11 LYST CHRM3 TRIP4 CHRNA1 TERF2IP CHRNA7 NLRC4 PGM1 TGM5 SLC39A13 PGM3 CHRND CHRNG RNU4ATAC ABCB4 SNAP29 EFTUD2 SLC25A3 ERCC8 CRELD1 PHKG2 PHYH LONP1 AP1S1 ICOS DMRT3 CLCN2 PIGA CLCN7 NRXN1 CLCNKB PIK3C2A CLIC2 PIK3CA PIK3CD PIK3R1 PIK3R2 CLN3 HS6ST1 RIN2 RAB3GAP2 RECQL4 A2ML1 PITX2 PITX3 PKD1 SNX10 PKD2 CIZ1 PEX16 PKLR FSCN2 PKHD1 PKP1 TJP2 PKP2 LMOD1 CYP7B1 ALG8 PLAGL1 CCR1 PLAU CCR6 PLCB4 DGCR8 PLCG2 PLD1 PLEC PLG MTO1 FTO SERPINF2 PLIN1 TMCO1 GMPPB PLN GMPPA PLOD1 SEC61A1 CNGB1 PLP1 CNGA1 EIF2AK3 ADAMTSL4 NIPBL CCDC151 CNGA3 ALG12 COG4 DSE PML CHST3 COL1A1 PMM2 COL1A2 COL2A1 HJV COL3A1 COL4A1 POMT2 PMS1 COL4A2 COL4A3 SLC25A24 COL4A4 COL4A5 COL5A1 COL5A2 COL6A1 NDUFB11 COL6A2 COL6A3 COL7A1 PIGL PSAT1 PMS2 PRRX1 COL11A1 KIF23 COL11A2 TBX4 MYOT NDUFAF5 POLR1A COMT TAPT1 ADAMTS3 ADAMTS2 DLL4 FKRP POLD1 POLE RRM2B POLG SMARCAL1 POLH GNPTAB EFEMP2 POT1 LZTFL1 NDUFAF3 BAG3 COX6B1 POLR1C COX7B COX8A POR COX10 POU1F1 POU2AF1 COX15 CP POU3F4 SAMHD1 TMEM43 GATA5 SIN3A CPN1 MINPP1 CPOX PPARG CPS1 CPT1A CPT2 GTF2IRD1 CR2 CTSA GDF3 CREBBP SLC40A1 SH2B1 CRKL PPOX PPP1CB DNAH1 THOC6 CRX CRYAB PPP2CA MMEL1 NSMF GNA14 CSF2RA KANSL1 NUP155 CSF2RB SEC24C ISG15 LACC1 PRF1 CSNK2A1 NEK8 TTC37 SETBP1 IQCB1 CNGB3 PRKACA CST3 LPIN2 PRKACG CEP41 CSTA MPLKIP PRKAR1A KBTBD13 NKX2-5 GIGYF2 PRKCD CTBP1 CCN2 CAVIN1 CTLA4 PRKCSH PRKG1 CTNS MAPK1 CTNNB1 CTNND2 CTSB MAP2K1 IL17RD MAP2K2 CEP57 CTSH NEXN CTSK NEUROG3 PRNP ADAMTSL2 PROC PROP1 SEMA3E PROS1 ATPAF2 CYB561 CYBA CYBB CEP104 CYLD COX20 TET2 LDLRAP1 PRPF31 TCTN3 TRPM4 IFT140 NLRP12 MASP1 DDX59 HTRA1 AHI1 NDUFS7 SAMD9 PRTN3 PLVAP PSAP DCAF8 HDAC4 PSEN1 PSEN2 TRAF3IP1 ABCA12 TMEM94 CYP7A1 PET100 CYP11A1 CYP11B1 IFT172 CYP11B2 CYP17A1 PIEZO1 CYP21A2 CYBC1 CYP24A1 CYP27A1 DHX38 KIAA0586 PSMB4 PTDSS1 PSMB8 PSMB9 CD55 PTPN22 DAXX TTC25 DBH PSMD12 NHLRC2 KCTD1 DNAL1 CUL7 DCC GPR101 PTCH1 PTEN BCOR ACE DCTN1 NSUN2 NEK9 DDB2 DDC PTGIS GINS1 ZEB2 PTH1R PLEKHM1 PHGDH B3GAT3 MKS1 HELLPAR KIAA0753 FBXL4 NSDHL DDX11 LRIG2 TMEM260 DNAAF5 KLHL3 DES FREM2 TRMT10C CCM2 PTPN11 PTPN14 SARS2 CEP120 PTPRC RNF125 HIBCH PROKR2 VPS33B TINF2 SDHAF2 CANT1 SACS FIG4 WASHC5 FGF20 DGUOK DHCR7 DHCR24 TMEM70 ARNT2 DHODH PEX19 ABCD3 ABCD4 PEX2 PEX5 PYCR1 DKC1 ALDH18A1 DLD PYGM MAFB RBM8A DLEC1 CDC73 DMD RFT1 SLC52A2 AMMECR1 SARDH RMND1 TMEM231 DMPK DNAH5 DNAH9 TNFSF15 MED12 DNASE1L3 RAB27A TCTN1 IL23R PCSK9 CDON DNM2 FKBP14 IMPG2 FERMT3 DNMT3A PDE11A CCDC40 RAD21 FOXP3 RAD51 TBX22 RAD51C RNASEH2B RAF1 KCNE2 RAG1 DGCR2 DPH1 RAG2 SCO2 RANBP2 AKT3 FAT4 NR2E3 RAP1A SLC26A3 RAP1B EVC2 B3GLCT ITCH KCNE3 RARA RARB SRD5A3 DSC2 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG1 HCN4 DSG2 RB1 NDUFAF2 DSP DYNC2H1 SLC26A2 COG7 RBBP8 DNAAF4 DTNA DUSP6 RBP3 RBP4 DVL1 ASCC1 DVL3 GLIS3 AGGF1 RDH5 FARSB RDH12 WDR60 PRPH2 ABCB6 ABCC9 MRPS16 FANCL PAM16 REN DPF2 ANO10 ARMC4 REST RET COLGALT1 RFC2 WRAP53 ECE1 GPC6 CCNQ PQBP1 ECHS1 PPCS TBL1XR1 EDA RGR ARPC1B WDPCP PALB2 EDN1 EDN3 EDNRA RHAG EDNRB TSFM RFWD3 RHO YARS2 KIF7 BBS10 CEP55 ESCO2 RIT1 RLBP1 DNAAF2 NDUFA13 SLC17A5 RMRP SNIP1 POLR1D RASGRP1 MLXIPL TNNI3K ANGPTL6 EYS TRNT1 ABHD5 IL36RN AKAP9 NDUFAF1 FAM13A RNF6 MEGF8 EGFR SUGCT SETD5 ZDHHC9 ATAD3A TRIM28 BBS7 COQ4 ATP6AP2 SBDS FANCI ZNF408 ALG9 ARMC5 HPS6 RLIM EIF4G1 EHMT1 CHCHD2 ELANE STEAP3 UBAC2 ROM1 ALOXE3 YY1AP1 RORC BSCL2 RP9 ASXL2 RP1 EIF2AK4 ELN RP2 RPGR GREM1 EMD C8ORF37 TANGO2 TOPORS ENG PRG4 RPE65 CSPP1 RPL5 TBL2 CD96 EP300 VPS13B EPB41 COQ7 EPB42 RPL10 RPL11 RPL15 TCTN2 RPL18 EPHB4 TACO1 GP6 RPL26 RPL27 ERBB3 GLRX5 CCDC8 SLC29A3 ERCC2 RPL35A SF3B4 EYA4 ERCC3 BRIP1 ERCC4 ERCC5 IRX5 ERCC6 RNF168 ERF ZMPSTE24 CWC27 CCDC174 CDHR1 SPEG ESR1 TRAIP RPS6KA3 NCF1 APC2 RPS7 TMEM216 RPS10 LRRK2 KIAA0319L ZFP57 RPS15A ETV6 TCIRG1 EVC RPS17 DHDDS RPS19 IKZF1 RPS20 EWSR1 EXT1 KLHL41 EXT2 RPS24 RPS26 RPS27 RPS28 RPS29 RRAS DTNBP1 RREB1 ADGRE2 EZH2 F2 RS1 TRDN F5 IL17F F7 F8 F9 F10 F11 WARS2 F12 IFT43 F13A1 PHF21A F13B RYR1 RYR2 STN1 FANCA FANCC FANCD2 GREB1L CITED2 FANCE SEMA3A ARL6 ACSL4 FAH BPTF FANCB DACT1 FANCF FANCG SAA1 SAMD9L SAG FBN1 FBN2 FBP1 SALL1 MBTPS2 ZMYND10 SC5D FKTN ATXN7 POMP FAM161A STRADA SCN1B SCN2B RNASEH2C SCN4A SCN4B FECH SCN5A COA5 GPC4 SCN9A SCN10A SCNN1A SCNN1B DCAF17 FGA KIAA1109 FGB EMG1 SCNN1G FGD1 PRCD SCO1 ANTXR1 SFTPA1 FGF8 NOP10 FGFR1 FGFR3 FGFR2 FGG MAD2L2 MERTK PRKAG2 FH PIBF1 FHL1 FHL2 POMK SLC30A10 SEC23B SEC23A SDHA FOXF1 SDHB SDHC FOXC1 SDHD CRTAP FOXE3 FOXC2 FOXE1 TRAF7 TMEM126A FLI1 FLII FLNA COG2 FLNB FLNC DCDC2 FRAS1 FLT4 FBLN5 FOXRED1 CIB1 FMO3 DEAF1 FMR1 FN1 NEBL CISD2 RNASEH2A SFTPB SFTPC CTC1 PTF1A SGCA PUF60 SGCB SGCD SGCG SGSH FOS CEP290 AGPAT2 RNF135 ARX FERMT1 DOLK SLC35A1 TUBB SLC19A2 BBIP1 ARFGEF2 TMEM138 ANKRD26 SHH FUZ POMGNT1 NLRP1 SLC39A4 NPC2 ARMC9 CHD7 FASTKD2 POMT1 TMEM107 TXNRD2 FXN CCDC115 SIM1 OSGEP SIX3 SKI PRPF8 PIGV NHP2 CCDC141 TMEM127 ZNF365 COA8 TDP2 SLC2A1 CEP164 HPS3 PEX26 RBCK1 STAMBP SLC4A1 FAN1 LIMS2 TPK1 TRMU NBAS PACS1 DNAI1 ATF6 HSD3B7 LIPT1 VAC14 PIGT MLH3 VIPAS39 NPHP3 PIEZO2 ATP2C1 ACAD8 GPIHBP1 FAM111A SLC12A1 SLC12A3 FRA16E LAT G6PC3 KLF1 KLF13 WDR11 CTCF DYNC2LI1 TRIM32 SLC18A2 ELMO2 SLC20A2 OTUD6B SLCO2A1 FRG1 FLAD1 ANKRD1 SLC22A5 GNB5 VPS35 XPNPEP3 EBP DLL3 NAXD MRPS14 PPA2 FSHR SNAI2 SMARCA2 B9D1 SMARCA4 SMARCB1 AGK WNT10A SMARCC2 SMARCE1 FOXP1 SMN1 FTL CARD11 NDUFAF6 SMPD1 MESP2 NR5A1 IFT122 FUCA1 NGLY1 SNCA OCLN FUT8 KDSR SUFU ERMARD SNRPB FZD2 MCTP2 PRDM16 BBS12 G6PC G6PD SNRNP200 SLC37A4 PALLD STAG2 SNTA1 SLX4 GAA AFF4 RAI1 SCN3B MGME1 INVS SON GABRA3 SP7 SOS1 SOS2 SOX2 SOX3 RAB23 GABRD SPATA7 SOX5 TRAF3IP2 SOX9 SOX10 CERKL SOX11 KDM5B DNAJB11 INTU SPAG1 ANKS6 GALE SPARC EOGT SETX DIS3L2 GALNS WWOX GALNT3 SPIB CHST14 RTEL1 ERAP1 C15ORF41 KIZ ZNF423 GJB6 SPTA1 SDCCAG8 SPTB KIF1B TMEM126B IQSEC2 GAS1 HDAC8 AKR1D1 GATA1 CPLX1 MAP3K20 GATA2 GATA3 GATA4 MYOZ2 GATA6 GBA GBE1 CDH23 SRP54 TAB2 GCDH SRY GCH1 NKX2-6 GCK POGZ MCCC2 COL25A1 SSR4 GNPTG SMOC1 SRCAP C12ORF57 SLFN14 GDF1 GDF2 COQ2 ADA2 BBS9 GDNF NFU1 GFI1 STAR NAGS STAT1 GGCX STAT3 STAT4 STAT5B NOD2 SLC52A3 ELOVL4 STIM1 XYLT1 GPD1L XYLT2 STK4 IFIH1 GJA1 CDAN1 STK11 MALT1 GJA5 GJA8 GJB2 ZNF469 GJB3 STX3 GANAB KISS1R TXNL4A PNPLA6 GLA STXBP2 GPC3 NDUFA12 GLB1 PMPCA SULT2B1 KLHL7 REEP6 GLI1 GLI2 GLI3 ABCC8 SURF1 NBEAL2 SUMF1 MYPN SYNE2 HES7 CFC1 VAMP7 VPS13A GLUL SMG9 HYLS1 GM2A PACS2 GNA11 KIAA0556 TRPV3 ATP11A GNAI2 ADAM17 GNAI3 TACR3 GNAQ TAF2 GNAS SEMA4A COX4I2 GNAT2 STRA6 MYO18B GTPBP3 MAP3K7 MAPRE2 KCNQ1OT1 TALDO1 GNS ABCG5 PIGO ABCG8 TBX1 ALG1 TAZ GP1BA GP1BB SPINK5 TBX2 TBX5 GP9 TBX6 GPD1 TBXAS1 GPI MARS2 LIAS IFT27 TCF4 TBX3 HNF1A TCF3 ADAMTSL1 DNAJC13 RPGRIP1L NEDD4L MLX HTRA2 TCOF1 GPR35 SYNE1 SMCHD1 GPX4 HGSNAT SLC19A3 OBSL1 NSD1 LMBR1 ARHGEF18 MUC5B IL17RC TDGF1 SPECC1L BBS5 SIK3 NR3C1 MED13L NSMCE3 TEK MPIG6B ADNP PRDM5 LARS2 TERC TERT NXN TF TFAP2A TFAP2B NR2F2 GSN ZFPM2 POLR3A MLYCD CRB1 TFR2 TFRC TGFB1 GRIP1 TGFB2 TGFB3 HAVCR2 TGFBR1 TGFBR2 B9D2 TGFBR3 TGIF1 MSH6 COL18A1 BVES ORAI1 GTF2E2 SH3PXD2B LDB3 GTF2I THPO SF3B1 GUCA1B MTMR14 DCLRE1C GUCY1A1 NKX2-1 IL12A-AS1 TK2 GUSB TKT GYG1 ETHE1 GYPC BTNL2 TLL1 GYS1 PPP1R15B MRAP ISCU TGDS TLR4 DNAI2 CKAP2L LRRC8A TNFRSF13B TMPO HAAO HABP2 HSD17B10 HADHA MRPL3 RPL35 HADHB SUZ12 HADH KCNJ18 TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 HBA2 POLG2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBG1 HBG2 CLCF1 NNT CFAP53 HCCS TNXB SERPIND1 TNPO3 PRDM6 DISP1 EDA2R HCRT TOP3A TP53 CEP19 ATP6V0A2 COX14 PIGM TPI1 TPM1 HEXA PIGY TPM2 HEXB TPM3 CFH PIGN HFE TPP2 HGD USP18 TREX1 ASXL1 SCN11A ARL2BP POU6F2 HIC1 B4GALT7 CFAP300 HK1 HLA-A HLA-B DDX58 MICOS13 MNX1 PDSS1 LEMD3 HLA-DPA1 ATOH7 HLA-DPB1 HLA-DQB1 VPS45 CCDC114 HLA-DRB1 CD2AP TRPC6 TMC6 GDF6 TRPS1 HLCS CLEC7A DNAJC21 HMBS KCNE5 HPSE2 ANO5 TSC1 TSC2 HMGCL TSHR LRRC6 TECRL TSPYL1 AGBL5 HNF4A TTN HNRNPA1 TTPA TUB TTR HNRNPA2B1 ELAC2 ALX4 TULP1 HNRNPU HIRA TWIST1 TNFSF4 TNFRSF4 HOXA1 SLC2A10 HOXA11 HOXA13 HOXD13 UBE3A HPGD SHPK UCP2 HPS1 UFD1 HRAS AIPL1 GTF2H5 UMPS UNG HSD3B2 IL17RA FLRT3 HSD11B2 UROS USH2A CLRN1 KDM6A D2HGDH HSPA9 VCL VCP IGSF3 VEGFC PROK2 VHL HSPG2 TRAPPC11 BEST1 VWF WAS CCDC103 WIPF1 NMNAT1 CLIP2 P2RY12 WFS1 WHCR NSD2 NELFA INPP5E WNT3 WNT5A WRN IRF8 WT1 PORCN TWNK XK XPA XPC DUX4 IDH1 IDH2 NABP1 IDH3B XRCC2 XRCC4 IDS IDUA NSMCE2 CFI SP110 CFAP298 YWHAE SHANK3 ZAP70 NDUFA11 ZIC2 ZIC3 IFNG IFNGR1 CNBP IGBP1 BCL11B IGF1R IGF2 IGFBP7 IGH IGHM RBPJ BLOC1S3 IGLL1 SELENOI IL1RN IL2RA IL2RG IL6 IL7 IL7R CRB2 ZNF513 IL10 IL10RA IL12A IL12B IL12RB1 ZBTB16 ZNF148 IMPDH1 ACD TMEM237 INHBA INS RIPPLY2 INPPL1 MRPL44 RNF113A VPS33A PDX1 IRF5 PRPF6 UPF3B ITGA2 ITGA2B MCCC1 ITGA3 ITGA7 WNK1 NPHP4 ITGB3 MRPS22 ITK ITPA ITPR1 IVD JAK2 JAK3 JUP ANOS1 COA6 ARL6IP6 ANTXR2 KCNA5 ALMS1 CLPB KCND3 KCNE1 PAX8 CCDC47 KCNH1 CXCR4 KCNH2 KCNJ1 KCNJ2 KCNJ5 KCNJ8 HPS4 KCNJ11 COQ9 SLMAP TMC8 KCNK3 KCNN4 KCNQ1 KCNQ2 FIP1L1 KDR KIF5A TBX20 CPLANE1 HYMAI KIT WNK4 KIF11 KRAS KRT1 RPGRIP1 KRT2 KRT5 KRT8 PNPLA2 KRT9 CYSLTR2 KRT10 PDSS2 KRT14 KRT16 LHX4 WDR34 NUP107 KRT18 DOCK8 KRT83 PIGS UBE3B KAT6A SLURP1 LAMA2 LAMA3 LAMA4 JPH2 LAMB2 B3GALT6 LAMB3 GJC2 LAMC2 PCARE SALL4 LAMP2 RPSA LBR LCAT DLL1 SHOC2 SELENON BOLA3 LDLR JMJD1C LEP CCDC39 CSRP3 LEPR LETM1 LFNG NLRP3 TTC7A ADAMTS10 ERGIC1 LIFR FGF23 MFAP5 LIG4 LIMK1 LIPA KMT2D LIPC AAAS HMGA2 ALX1 LMNA LMNB1 IFT88 LMX1B LOR VANGL1 CCBE1 LOX ARID2 LPL SPRY4 MED25 LRP1 LRP2 LRP5 PIH1D3 DSG4 LTBP2 LTBP3 SH2D1A LYZ EPCAM SMAD3 SMAD4 SMAD6 SMAD9 MAF
Atrioventricular canal defect
Genes 40
GATA4 GATA6 RAF1 HYLS1 EVC GJA1 MMP21 NKX2-5 CRELD1 FANCB FLNA NEK1 INTU LONP1 NKX2-6 PTPN11 EVC2 CCDC22 ACVR2B BRAF GDF1 KAT6B MAP3K7 WASHC5 DYNC2LI1 PUF60 KDM6A GLI1 WDPCP GLI3 NR2F2 TBX1 DHCR7 FOXF1 PKD1L1 ZIC3 CFC1 CDC45 TBX5 GATA1
Pulmonary arterial hypertension
Genes 104
MPL PIGN KRAS SLC25A24 CACNA1D IL12B HSPG2 FLNA KRT8 EOGT TBX4 MLX HLA-B KRT18 PDSS1 DLL4 SFTPB SFTPC FOS HLA-DRB1 ACTA2 AGPAT2 KIAA0319L GATA6 LAMA2 IKBKG COX7B GBA TCIRG1 LAMB2 IRF5 PAM16 SPECC1L CAV1 PPARG ACVRL1 IDUA GDF2 COLQ PPCS TERT BANF1 NFU1 STAT1 NOD2 JAK2 GJA1 LIFR LIPT1 VAC14 BMPR2 LIPA TNFSF11 FBN1 SARS2 THPO SFTPA2 PIGA MGP COX1 ALMS1 COX2 CLCN7 G6PC3 COX3 FIG4 ARHGAP31 NFIX SCARB2 ND1 ND4 RBPJ ND5 ND6 SNX10 KCNK3 ABCD4 TRNF CCN2 CCR6 CAVIN1 BSCL2 FGFR1 TRNH FGFR3 EIF2AK4 TRNL1 TRNQ TRNS1 TRNS2 TRNW HBB DOCK6 ENG SLC37A4 MED12 ATP5F1A NOTCH1 FOXF1 SMAD4 CHST3 COL1A1 SMAD9 COL1A2