SNPMiner Trials (Home Page)
Report for Mutation T1405N
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There are 4 clinical trials
Clinical Trials
      This study will determine the pharmacokinetics and safety of intravenous citrulline given to
      children undergoing cardiopulmonary bypass for the correction of congenital heart defects.
    
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
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    Heart Defects, Congenital    Congenital Abn    Congenital Abnormalities   
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 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
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   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 1844
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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   hr>
Abnormal cardiac septum morphology 
Genes 657
PEX1  MRAS  LETM1  ARID1B  GTF2H5  UBR1  NONO  STXBP1  EPHB4  RPL35A  ALKBH8  UPF3B  BCOR  COX15  NIPBL  PORCN  STRA6  CRELD1  PIGL  MMP2  MTFMT  PHGDH  WDPCP  SALL1  RMRP  HYMAI  GLI1  TAB2  NSDHL  SURF1  DHCR7  TBX5  FBN1  TBX1  MYH6  SLC19A3  C2CD3  ZMPSTE24  WNT4  KCNA1  PEX19  ADK  ECE1  IFT172  ERCC4  TXNL4A  CTU2  FLNA  SMC3  VIPAS39  COL11A1  PAH  NKX2-6  OTUD6B  GNAO1  RAB23  DYNC2LI1  GLI3  PLAGL1  CDKL5  FANCF  FTO  LARS2  TBX1  FOXF1  NKX2-1  HOXD13  DGCR2  FBN2  RPS17  KIAA0586  ALG8  HIRA  SLC19A2  PKD1L1  ALG9  CEP57  MLXIPL  BRAF  PUF60  MCTP2  CLIP2  NRXN1  MYPN  KAT6B  PUF60  CTBP1  EP300  BUB1B  EXT2  ESS2  GPX4  SHANK3  BRAF  GATA6  KAT6B  NDUFS1  STRADA  TLL1  KIF11  PEX5  SF3B4  MMP21  TRAIP  COL5A1  EOGT  YY1AP1  TBL2  SNRPB  NPHP3  FANCI  NKX2-5  ARVCF  ACTC1  B3GLCT  DGCR6  SEC24C  FANCG  NDUFAF2  ADAMTS10  MEOX1  ARID2  TBX5  TSFM  CITED2  SH2B1  FLI1  MGP  MED12  NKX2-5  CHST14  JMJD1C  ASCC1  FBN1  FGFR1  ECHS1  COMT  NONO  ATIC  ZIC3  CACNA1D  GPC6  CWC27  SKI  GPC3  TTC37  RNU4ATAC  SRCAP  LONP1  GTF2I  CDC45  TBX22  BMP2  MGAT2  SLC25A22  MEIS2  PEX14  FLNB  SPECC1L  TBX2  LRP5  PEX2  DNMT3A  FOXC2  PEX10  PIEZO2  MPL  RPS26  VPS33B  MPLKIP  PRDM16  NUP107  LARP7  RECQL4  PACS1  CCDC174  PIK3R2  RNU4ATAC  GATA4  GATA4  SOX4  SDHA  NAA10  ARCN1  FANCB  TBX3  KMT2A  RAD51  SHOC2  DPF2  GABRD  GP1BB  DTNA  FANCD2  COG1  SKIV2L  ZDHHC9  BCOR  TACO1  GATA6  CCNQ  FGFR3  NOTCH2  CHD7  SEMA3E  IGBP1  TTC7A  CHD4  CRB2  RPL5  LZTR1  BRCA1  MAP2K1  ZIC3  AMMECR1  PACS2  ACVR2B  POLR1A  LETM1  NEK1  NDUFAF5  MAP2K2  WHCR  PEX11B  KRAS  BRAF  ASXL1  TP63  XRCC2  FIG4  SYNE1  MEIS2  NIPBL  GPC4  COL1A1  FGFR2  ARX  HAAO  STK4  ZEB2  FOXC1  RERE  HNRNPU  TMEM94  PCGF2  PEX16  NDUFA12  DGCR8  NDUFA13  GATA6  EVC2  SPECC1L  FANCL  MEGF8  PACS1  LMNA  FOXF1  RBM10  RREB1  MASP1  AGGF1  GYG1  NF1  LONP1  GTF2E2  NOTCH1  MAP2K1  PIGA  GDF6  GJA1  GJA1  MYT1  CCDC22  CTCF  ARX  GDF3  MTFMT  TBX1  CANT1  NEK9  WDR60  USP9X  EVC2  ARHGAP31  GLI3  CKAP2L  LMNA  AFF4  TFAP2B  CEP290  GPC3  RPL15  ATP6V1E1  FANCB  TRIM8  PTPN11  MED13L  NDUFB11  SETD5  DYNC2LI1  GATA6  DSG1  HYLS1  KRAS  XYLT2  ADAMTS10  FOXRED1  HRAS  CREBBP  LTBP4  NFE2L2  RAD51C  GATA5  FLNA  APC2  BMP2  G6PC3  COL5A2  NSD1  SETD2  SON  BAZ1B  SOS2  NDUFA4  ERCC2  ECHS1  RPL11  BSCL2  CRELD1  TXNL4A  NKX2-5  PSMD12  MEOX1  MED12  ATP6V0A2  TARS1  NXN  KMT2D  KIF15  RFWD3  MYH7  ATRX  RFC2  TKT  CKAP2L  WASHC5  RERE  DACT1  DLL4  IFT81  PTEN  GATA4  NDUFS3  MMP14  MAP2K2  GDF1  UBE3B  RAP1A  LBR  IRX5  RPL27  FGFR2  SIX6  SLC19A2  PCNT  ATN1  BMPR1A  NDUFS4  PIGQ  SIK1  TBX1  PIGL  GTF2IRD1  TGFBR1  ALG12  COL11A2  SALL4  FIBP  ANK1  MPLKIP  SMC3  FANCI  SMARCE1  UMPS  NDUFS7  MKKS  DVL3  AUTS2  SOS1  NSD2  PTPN11  RARB  KIF7  CCBE1  SLC29A3  RNF113A  GATA4  EFTUD2  MAD2L2  ATP6V0A2  PEX3  SPECC1L  MGP  SCN2A  ROBO4  SETD5  NAA10  PIGP  CFC1  TTC7A  PQBP1  MYRF  KAT6A  GATA6  INTU  FANCA  STAT1  NR2F2  ABL1  AMER1  TALDO1  FGFRL1  ANKRD11  CDK13  CD96  MAP3K7  SLX4  CACNA1C  RPL10  RAD21  TRIP13  GLA  STAG2  B3GLCT  NOTCH2  JAG1  TAPT1  TBX20  KDM6A  NEUROD2  PTF1A  RAP1B  KRAS  GDF1  MKS1  ROR2  HSPG2  TMCO1  MAP3K7  FLNA  WNT4  THOC6  NDUFS2  ELN  FLCN  KMT2D  NOTCH1  PALB2  GATA4  SIK3  COX7B  PEX26  TGFB3  TALDO1  BUB3  SMG9  PPP1CB  FANCE  FUT8  WT1  NR2F2  FANCM  HCCS  B3GALT6  RAF1  DNMT3A  KDM6A  BRAF  SLC29A3  HDAC8  ELN  PDHA1  HCCS  PIK3CA  NOTCH2  B3GALT6  DSE  PLD1  PIGN  FGFR3  NCAPG2  BBS2  RAC1  PIGN  KAT6B  VPS13B  SMAD4  NODAL  UFD1  KANSL1  CCND2  PALB2  TBX4  SMAD4  FIG4  LRP2  ACADVL  KAT6A  NDUFA2  ABCD4  GJA1  OTUD6B  HOXA13  TTC37  IGF1R  NSD2  WDR35  MYH7  WASHC5  ERBB3  CHST3  FADD  TP63  RBM8A  NUP107  EFTUD2  PEX1  CASK  BUB1  LRP2  XYLT1  PEX13  ESCO2  PIEZO1  EHMT1  LYST  RAF1  PEX12  CRKL  NKX2-5  CPLX1  NDUFAF6  TRRAP  SETBP1  PIGO  SLC25A24  SOX2  BRAF  POLA1  GJA1  RSPO2  MED25  TBX3  EXOC6B  NELFA  NDUFA10  ZMPSTE24  TMEM260  NDUFV2  POR  PAX3  NKX2-5  XYLT2  CHRM3  KDM6A  ERCC3  LIMK1  PQBP1  EVC  NDUFV1  FADD  CDK10  NSD1  CHST3  MED12  RPS19  TRIP4  BRCA2  ATP6V1A  DHCR7  RIT1  SMC1A  TCTN3  COX7B  TRIO  PIK3R2  LIPT1  LTBP2  GPC4  PIGN  PQBP1  NEK9  KDM5B  CACNA1D  RAD21  PEX19  DNAJC19  CDC42  UBR1  PEX16  DPH1  VAC14  TBX1  MAPK1  ASXL2  FLNA  SNRPB  NDUFA9  NEK1  NKX2-5  NOTCH3  UBE2A  NPHP3  NKX2-1  GATA6  HSPA9  TGDS  PEX6  FKTN  PNKP  ROR2  COX7B  AKT3  NFIX  HRAS  SEMA3E  MYL2  SOX2  USP9X  CCDC22  PET100  FANCC  SALL1  BCR  CNTNAP2  CHD7  BRIP1  PPP2CA  NDUFB11  STAMBP  TGFBR2  KCNAB2  MYMK  CEP57  MYBPC3  CITED2  EVC  TBX1  DDX11  UBE2T  B3GAT3  SMN1  GATA1  PIK3R2  TGDS  NDUFS8  RBM8A   hr>
Secundum atrial septal defect 
Genes 9
TBX5  NF1  PTF1A  RPL11  TRIP4  MYH6  GATA6  GDF1  NKX2-5   hr>
Ventricular septal defect 
Genes 390
PEX1  LETM1  ARID1B  GTF2H5  UBR1  NONO  STXBP1  RPL35A  ALKBH8  BCOR  COX15  NIPBL  PORCN  STRA6  PIGL  MMP2  MTFMT  PHGDH  HYMAI  GLI1  TAB2  SURF1  DHCR7  TBX5  FBN1  TBX1  SLC19A3  C2CD3  WNT4  KCNA1  PEX19  ECE1  IFT172  TXNL4A  CTU2  SMC3  VIPAS39  PAH  OTUD6B  GNAO1  RAB23  DYNC2LI1  GLI3  PLAGL1  CDKL5  FTO  LARS2  TBX1  NKX2-1  DGCR2  FBN2  HIRA  SLC19A2  PKD1L1  CEP57  MLXIPL  CLIP2  NRXN1  KAT6B  PUF60  CTBP1  EP300  EXT2  ESS2  SHANK3  NDUFS1  PEX5  SF3B4  TRAIP  EOGT  YY1AP1  TBL2  SNRPB  FANCI  ARVCF  B3GLCT  DGCR6  SEC24C  NDUFAF2  ADAMTS10  MEOX1  TBX5  CITED2  FLI1  MGP  JMJD1C  FBN1  FGFR1  ECHS1  COMT  NONO  CACNA1D  GPC6  CWC27  GPC3  TTC37  LONP1  GTF2I  CDC45  MGAT2  SLC25A22  MEIS2  PEX14  FLNB  SPECC1L  LRP5  PEX2  FOXC2  PEX10  PIEZO2  RPS26  VPS33B  MPLKIP  NUP107  CCDC174  PIK3R2  RNU4ATAC  GATA4  SOX4  SDHA  NAA10  ARCN1  TBX3  KMT2A  SHOC2  GP1BB  DTNA  SKIV2L  TACO1  GATA6  NOTCH2  CHD7  SEMA3E  IGBP1  TTC7A  CHD4  CRB2  RPL5  MAP2K1  ZIC3  ACVR2B  NEK1  NDUFAF5  WHCR  PEX11B  BRAF  ASXL1  TP63  FIG4  MEIS2  NIPBL  GPC4  ARX  ZEB2  RERE  TMEM94  PEX16  NDUFA12  DGCR8  NDUFA13  EVC2  SPECC1L  PACS1  FOXF1  RREB1  MASP1  LONP1  GTF2E2  NOTCH1  GDF6  GJA1  MYT1  CCDC22  ARX  GDF3  MTFMT  CANT1  NEK9  WDR60  ARHGAP31  GLI3  CKAP2L  TFAP2B  CEP290  GPC3  RPL15  TRIM8  PTPN11  NDUFB11  SETD5  GATA6  DSG1  HYLS1  KRAS  ADAMTS10  FOXRED1  HRAS  CREBBP  GATA5  BMP2  BAZ1B  NDUFA4  ERCC2  ECHS1  RPL11  NKX2-5  PSMD12  MEOX1  TARS1  NXN  ATRX  RFC2  TKT  CKAP2L  WASHC5  DLL4  IFT81  NDUFS3  MMP14  GDF1  UBE3B  LBR  FGFR2  SIX6  SLC19A2  NDUFS4  PIGQ  SIK1  TBX1  PIGL  GTF2IRD1  COL11A2  SALL4  FIBP  MPLKIP  SMC3  UMPS  NDUFS7  MKKS  DVL3  SOS1  RARB  CCBE1  SLC29A3  RNF113A  PEX3  SPECC1L  MGP  SCN2A  SETD5  NAA10  PIGP  TTC7A  MYRF  KAT6A  GATA6  ABL1  AMER1  FGFRL1  ANKRD11  CDK13  CD96  CACNA1C  RAD21  JAG1  TAPT1  KDM6A  NEUROD2  GDF1  ROR2  WNT4  THOC6  NDUFS2  ELN  KMT2D  GATA4  PEX26  TGFB3  TALDO1  SMG9  PPP1CB  WT1  NR2F2  HCCS  SLC29A3  HDAC8  ELN  PDHA1  PIK3CA  B3GALT6  RAC1  KAT6B  VPS13B  SMAD4  NODAL  UFD1  KANSL1  CCND2  PALB2  FIG4  LRP2  ACADVL  KAT6A  NDUFA2  GJA1  OTUD6B  HOXA13  TTC37  IGF1R  NSD2  WASHC5  ERBB3  CHST3  FADD  TP63  RBM8A  NUP107  EFTUD2  PEX1  CASK  LRP2  XYLT1  PEX13  ESCO2  PEX12  CRKL  NKX2-5  CPLX1  NDUFAF6  SOX2  POLA1  RSPO2  TBX3  NDUFA10  TMEM260  NDUFV2  XYLT2  CHRM3  ERCC3  LIMK1  PQBP1  EVC  NDUFV1  FADD  NSD1  MED12  RPS19  DHCR7  RIT1  SMC1A  TCTN3  PIK3R2  LIPT1  LTBP2  GPC4  NEK9  CACNA1D  RAD21  DNAJC19  PEX16  DPH1  VAC14  TBX1  MAPK1  SNRPB  NDUFA9  NKX2-5  NOTCH3  UBE2A  NKX2-1  TGDS  PEX6  PNKP  ROR2  COX7B  AKT3  HRAS  SOX2  CCDC22  PET100  SALL1  BCR  CNTNAP2  STAMBP  TBX1  DDX11  SMN1  PIK3R2  TGDS  NDUFS8   hr>
Abnormality of the cardiovascular system 
Genes 4016
CLDN1  LETM1  FAT4  TNFRSF11A  CPLANE1  GLI3  IL17RA  PRKAR1A  CCDC115  SOX9  CYP11B1  MYPN  CYP11B2  F2  TET2  SDCCAG8  SMAD6  LMNB1  KIT  GLI1  NDUFB10  EMD  MYH6  C2CD3  GDNF  PEPD  DLL3  NBAS  ABCA1  NEDD4L  ARL3  FGF8  ROR2  PTCH2  PDE6G  PRKCH  CDKN2C  SELENON  TFAP2B  GBA  TREX1  SMAD6  ASXL1  PRPF31  PIGV  POMT2  NPHP4  DDC  TMEM67  SFTPB  ZFPM2  SPINK5  HIRA  SLC19A2  GBA  CYP7A1  GAS8  MEN1  CEP57  GP1BA  FKRP  WDR60  MCTP2  KDR  LMNA  CSTA  SDHC  KCNH1  OPA1  FHL1  SGO1  ALDH18A1  EXT2  XRCC2  GPX4  GDF2  TNFSF4  NF1  CDON  HLA-DPB1  KAT6B  DNAAF1  NDUFS1  KCNE3  BCR  APP  MEFV  SPAG1  CYLD  CCDC40  JAK2  SSR4  IL10  TRDN  ACTN2  HAMP  NOTCH3  MYH7  MC2R  CALR  SCN1B  EYA4  DDX58  B3GLCT  FCGR2A  SUFU  IGSF3  IGF2  STN1  IFNG  SH2B1  SCYL1  LMNA  COL5A1  NONO  ATIC  SMAD3  TGFBR1  IFNGR1  SDHAF1  LONP1  DSG2  LDLRAP1  GTF2I  CDC45  PDE3A  BMP2  CCNQ  GFI1B  TXNRD2  RYR2  ATP5F1D  SLC25A22  RPGRIP1L  SGCG  ZNF687  LRP5  DNMT3A  VWF  PRPF6  RPS26  PROP1  JAG1  PEX1  NCF1  PAFAH1B1  DLL1  BEST1  PIK3R2  ITGA2B  ND4  SDHA  CCR6  KDSR  TBX3  SHOC2  PRKACG  JUP  DPF2  SCN5A  MRPL3  TRNE  CD81  F7  SDHB  IGBP1  DSC2  LZTR1  BRCA1  ACADVL  MAP2K2  CNGA3  HRAS  WT1  NDUFB8  GREB1L  GATA1  MTHFR  KCTD1  TMPO  GJA8  MAK  MTHFR  POT1  HAVCR2  SERPINF2  GATA3  CC2D2A  SDHB  NLRP3  RAF1  KCNQ1  MPI  FAM161A  HESX1  LRRC56  GLB1  KIAA0586  STK4  SAA1  COL1A2  ALG9  NDUFA12  EWSR1  TRPM4  PACS1  MYORG  EED  EFEMP2  MRAS  CNGB3  DYSF  GYG1  GTF2E2  MAP2K1  PIGA  SCN1B  ESCO2  AKAP9  TGFB1  RNASEH2A  DSP  DNAJB11  FBLN5  SLC26A2  ZAP70  APC  TTR  TPK1  GATA4  NEK9  ARHGAP31  TMC6  DGUOK  DSP  TFAP2B  KIT  KRT2  SOX10  HADHA  WDR34  ALX3  GABRA3  CCDC114  MYH11  SLC30A10  GATA6  HYLS1  NDP  MGME1  STIM1  ATAD3A  COL7A1  TPM3  SLC25A13  ADAMTSL4  FGA  CD40  HEPHL1  ND6  DLD  HYDIN  ATM  KCNQ2  USP45  VAMP7  MID1  FRG1  IDH2  PSEN1  BCL10  NDUFB3  CCR1  SON  SOS2  ERCC2  GP1BA  HBA1  STRA6  MVK  TFR2  KCNJ8  ATP6V0A2  CPS1  KMT2D  KIF15  TMEM70  SH3PXD2B  ATRX  HPS3  RS1  GATA4  LRP1  NDUFS3  TRNT  PIK3CA  RSPH4A  CSPP1  CYSLTR2  TRNQ  SDHD  PTPN22  TRNN  GJB3  CD55  ALG12  CCM2  ATXN7  FANCI  UMPS  MKKS  RLBP1  NSD2  RARB  MAP3K1  ANKRD1  CDK4  BSCL2  VANGL1  CDH23  AK2  GATA4  MAD2L2  ERCC3  TNNI3  AHR  ARID1A  PTH1R  SCN2A  KCND3  OFD1  MYH11  FLT4  PRKAR1A  ITPR1  KLHL3  GPR35  HFE  NR2F2  COL4A4  CALM2  ABL1  KCNE1  TUBB  CD96  SLX4  RAG2  MTOR  CHRNA1  STAG2  KRT14  CEP55  TRNW  AIP  BTD  CUL7  HSPG2  SCNN1A  FARSB  NR3C1  RNASEH2A  FLNA  BTD  TGFBR2  ADA  FSCN2  AKT1  KMT2D  NOTCH1  ERGIC1  PPCS  NF2  GCLC  TNFRSF1A  IL10  MICOS13  LRP6  PRKACA  SLC25A4  MESP2  LBR  RFWD3  SCNN1A  PERP  B3GALT6  DNMT3A  CSF2RA  MYH6  TCAP  CYP7B1  CCR6  ACAT1  TSPYL1  ELN  IL6  ELN  MLH3  FGFR3  CACNA1C  ACSL4  FLT4  SKI  MTAP  VPS13B  CAVIN1  KANSL1  COL3A1  GATA4  MYMK  F5  KAT6A  ATP7A  AKT1  PRKAG2  ITGB3  SNAP29  CCDC141  NCF1  WASHC5  ND3  NPHP3  POLG2  LORICRIN  INS  NDUFS7  WDPCP  BUB1  TBXAS1  CENPF  HGSNAT  FGFR1  SGCG  MEF2A  CLCN7  CEP290  C8ORF37  SRCAP  GNAQ  HAVCR2  NOTCH1  GLI2  IGH  ZIC2  DOCK6  PLG  HABP2  LRRC8A  GJA1  ITGB3  CHCHD2  FCGR2B  NCF2  GLB1  TNFRSF13C  GANAB  WAS  PRDM6  GATAD1  MYPN  CD79A  SCN5A  TRNS1  H19  H19  RBP4  AIRE  NCF2  POLG2  NDUFS3  AGBL5  RIT1  C12ORF57  AKT1  CCND1  PBX1  KIF5A  PQBP1  CALM2  MVK  ERCC5  DDRGK1  ACP5  EDNRA  DAXX  CDC73  KRT14  DNAJC19  PEX16  IFT27  PIK3R1  TERT  CYP11B1  PEX14  BBS1  TMEM127  MYH9  PEX1  GNAS  NKX2-1  TCF4  GNAS  HBA2  FLAD1  OTC  CACNB2  ARID2  MTTP  PEX2  SEMA4A  PIK3CA  COL1A1  KIZ  PIK3CA  SF3B4  FLII  ACTN4  GNPTAB  NFIX  BEST1  PTEN  SPATA7  CCDC22  WRN  CNTNAP2  RPS17  RIN2  VCL  KIF1B  GBA  TRNT1  MCIDAS  PEX1  FGA  MRAS  RANBP2  TGM5  GTF2H5  ND5  PTEN  SBDS  ALKBH8  COX3  ATP6  UPF3B  ABCG8  ALDH3A2  COX15  ACTA2  ERCC2  DMD  RPGRIP1  RAI1  NLRP3  POU2AF1  RNF168  ANOS1  SGCD  IQSEC2  XPNPEP2  CYB561  GINS1  TERT  IDUA  APOB  ND2  HYOU1  COX2  TUBB  MBTPS2  IFT172  NUBPL  CEP19  PROKR2  TMEM231  IRF2BP2  MYH6  PRPF4  KCNA1  SEC63  BAP1  ERCC4  KCNJ5  DNAI1  LRP5  VIPAS39  SHOC2  HSD3B7  PKLR  RPL15  COX3  SCNN1G  ZMYND10  MECP2  ATP5F1A  RPS17  H19-ICR  PITX2  MYPN  CTSA  SLC7A7  DHDDS  GP1BA  SELENON  HLA-B  ORAI1  IFT140  KCNE1  NFU1  GDF6  SPTA1  CALR  BAP1  ENPP1  CNGA1  SMARCA2  PIGW  KCNN4  RYR2  MOG  MAP3K7  IFIH1  COL5A1  TMEM216  RET  TBC1D24  APOA5  DCAF17  ND5  COX1  COG7  FAH  JAK2  TNFRSF13C  MEN1  FKTN  SEC24C  RPL31  IL2RG  CCND1  DNAAF6  MYH7  TWIST1  KIAA1549  FLI1  MAPRE2  MIPEP  APP  ACTA1  MMP1  SPEF2  PAFAH1B1  CACNA1D  NAA10  KRAS  SMPD1  SPTA1  TDGF1  RPL11  HMGA2  GP1BA  SLC52A2  PEX14  TBX2  EPB42  GYPC  SMARCB1  GNS  SERPINA6  FOS  BBS10  LDB3  LARP7  PDGFRA  NDUFAF3  B9D1  GBA  GBA  PROC  NAA10  CAV1  FANCB  SELENON  FECH  MMUT  LIPA  DBH  DTNA  POLR3A  CALM3  POMT2  BCOR  KRAS  BCOR  SMAD4  KCNH2  LMNA  MYOC  LCAT  EDNRB  MSX1  NOTCH2  WRN  NLRP3  SEMA3E  IRF5  RPL5  ND1  PACS2  EYS  ACVR2B  POLR1A  SPP1  RPGRIP1  KCNE5  SDHAF1  RPGRIP1L  F13B  SNAI2  DPP6  DRC1  ADNP  TMEM231  PSMB4  CPT2  TRNL1  ANAPC1  COX1  FOXC1  FGFR2  STAR  TECRL  AHI1  NOTCH3  KCNQ1OT1  COQ7  TMEM237  D2HGDH  NKX2-5  RFT1  RPGR  TGFB2  PLN  TSHR  MYL2  SCN11A  LONP1  SIN3A  GJA1  MYT1  SCNN1B  CCDC22  NECTIN1  PDGFRA  CFTR  GDF3  RET  EVC2  PRKCD  GSN  NOS3  ALB  COX10  EIF4G1  PTPN11  ATR  ROM1  TPM2  LMNB1  VPS35  DSG1  CDC73  SKI  TREX1  SCN2B  PRTN3  CAV3  GMPPB  COL3A1  SLC39A13  FGB  SLC25A4  FLNA  APC2  COL3A1  BBS9  KRT5  WNT5A  SMARCA4  NDUFA4  PEX7  TRNW  SYNE2  HNF1A  SUFU  GM2A  CFAP300  NFKB2  IFT88  FANCB  GNAS  NKX2-5  WASHC5  CALR  NDUFAF3  RHO  MMP14  MAP2K2  BPTF  GBA  IRX5  ATOH7  SEC61A1  LAMA4  B4GALT7  SERPING1  ELOVL4  PEX6  FOXC1  ACAD8  TBX1  THPO  GTF2IRD1  SALL4  PML  ND6  NDUFS7  DNM2  FLNC  SOS1  GFI1  EFTUD2  NR3C2  SGCB  TNFSF15  HDAC8  POR  FAM111A  PITX2  DMPK  USB1  FAS  GJC2  SOX10  SETD5  SLC26A2  KCNJ2  TBXA2R  SLC20A2  ADNP  TMEM237  F10  COL3A1  MYBPC3  CCDC47  HS6ST1  TPM1  ATP5F1E  COG5  KDM6A  FBXL4  ADCY5  ROR2  MAP3K7  CPOX  RPS6KA3  WNT4  GLB1  CYP11B2  GLIS3  IL10RA  SMC1A  CAVIN1  BNC2  GBA  CFI  GATA4  COX7B  F2  HBB  IDUA  FANCE  SDHD  PRKG1  FLNA  PKP2  SLC22A5  PIBF1  ARL2BP  PDHA1  TNFRSF1B  PEX26  PSEN2  ELP1  SLC37A4  LIPC  DNAH5  PIGN  ARNT2  SFTPA2  CLCNKB  PSEN2  ACADM  RAC1  CRTAP  SMAD4  NDUFB11  RPS6KA3  GDF1  FAT4  NDUFA11  IFT172  TFAP2A  TRDN  SALL4  DLD  TNFSF11  STAT3  PTPN22  MEGF8  SDHC  PSMB9  NLRP3  DCHS1  EXT2  NUP107  SMCHD1  EFTUD2  TRAC  ANK2  OCLN  HBB  CALM2  LYST  PEX5  RAF1  SCN5A  PIGL  RTTN  ABCG8  MYO5B  CRKL  NKX2-5  TGFB3  CPLX1  PYGM  DCLRE1C  CALM1  HCRT  CALM2  PARN  PRKAG2  TPM1  SGCB  SPEG  RYR1  ZMPSTE24  SLMAP  IL2RG  CASP8  TMEM260  RAG1  CFAP410  PSTPIP1  SGCA  MYH7  NDUFV1  KCNH2  ALOXE3  SLC26A2  TRPM4  FBN1  SLC35A2  LIPC  ALB  TRNL1  CASQ2  JPH2  PGM1  SCN1B  RYR2  CCDC103  IL2RA  LIPT1  ATM  TFAP2B  RET  FBN1  CACNA1D  MRPL44  IKZF1  HIC1  SH2B3  ZNF469  LTBP3  CACNA1D  H19  UBR1  ADA2  IMPG2  HNF4A  MYF6  COL6A3  NDUFA9  ALAS2  HLA-DRB1  C15ORF41  OBSL1  MEN1  TRAF3IP1  CDH23  PDE6H  OFD1  PEX16  POR  KCTD1  TPI1  CD28  TRIP11  ND3  DDB2  MYL2  GRIP1  MMUT  BLOC1S3  PLCG2  TGFBR3  ABCC6  TSR2  PTEN  MYO18B  NCF4  NRAS  FGFR2  FERMT1  SON  KCNAB2  ARHGEF18  SERPINF2  MMP1  IRF5  EVC  APOA1  FAT4  CP  CNBP  GNE  DDX11  STIM1  CYP1B1  NDUFS4  DSP  RASA1  SAMHD1  CNGB1  CYP11A1  IDH3A  TMTC3  ARID1B  GMPPA  MGMT  ZFPM2  MYH7  PCARE  RIPK4  CYP27A1  ATP6  BTK  SNCA  STX3  AGPAT2  MYH7  CTC1  CTSH  KRT5  FRAS1  LZTFL1  MTFMT  GPC4  POMT2  TGIF1  HMBS  TREX1  AKAP9  PROS1  STAT3  SALL1  TMEM43  RMRP  GPR101  WDPCP  PCARE  CFTR  SNCA  HBB  FBN1  SLC25A4  ASCL1  CFHR1  AGT  YY1AP1  CYP24A1  ECE1  FZD4  PMM2  GCK  NDP  PAH  OTUD6B  ARMC4  CBS  ERCC4  GUCY1A1  SLC2A10  AMER1  SDHA  MKS1  NDUFV2  FTO  WFS1  DBH  DHCR24  RPS7  MYH7  TRNL1  NKX2-1  HOXD13  COX8A  SGCD  WDR19  STAC3  MLYCD  DMD  LEP  KAT6B  CFAP53  COL1A2  COX14  GNA11  CERKL  ESS2  TF  PNPLA2  PDE6C  CYTB  MFAP5  SPEG  DES  STRADA  TLL1  PLAU  CHRNG  CPOX  PTPRC  SNRPB  TGFB3  KDSR  CDKN1C  ARVCF  BACH2  ATP6V1B2  ABCA1  ITCH  CFH  TMEM237  POMGNT1  PIGV  TMEM127  SRD5A3  TBX5  ATRX  IDUA  CITED2  PEX13  IGF2  CHST14  PEX12  JMJD1C  F12  ACTB  CCDC103  FGF17  FCGR2A  NAGA  APC  NF1  SLC25A20  GPC6  DNAL1  DES  TTC37  ACTA2  BLNK  SHPK  FOXP1  MAT2A  SMARCA4  F7  PIK3CA  FLNB  SIM1  GJB2  TPM2  GNAQ  FOXC2  HLA-DRB1  GJA1  PMS2  MPLKIP  AIP  POMP  NNT  SDHB  CLRN1  ACTG1  XPNPEP3  ERCC4  PSAP  ARCN1  SIX3  BAG3  RPSA  DNAAF5  TMEM237  DES  USP18  AGK  PEX10  NODAL  XRCC4  ND1  SNX10  CHD4  JAK2  MAP2K1  KRT18  KRAS  WHCR  CTLA4  GJB3  GATA1  RAI1  ITGA8  INVS  RPS20  PRKAR1A  PROC  DCAF8  DVL3  CCDC141  MEIS2  ACTG2  COL1A1  PSMB8  POLG  CHRM3  TRAF7  LRRC6  TNNI3  SEMA5A  RERE  CSRP3  CCBE1  ALDH18A1  CTSB  DSP  SCN10A  HES7  MKKS  JUP  BBS5  FANCL  FLNA  STN1  LIAS  PLCB4  SDHD  NF1  ALDH18A1  WRAP53  COL2A1  RAD21  HLA-B  COX2  FAS  POLR1D  OSTM1  RRM2B  RPS19  ERCC2  GPC3  ND5  TRIM8  SDHA  COG7  VCL  STAT3  ACVRL1  KCNA5  PTEN  DLL4  ADAMTS10  HRAS  GNAS  FGFR2  ALG1  USH2A  PPARG  KITLG  IFT172  BMP2  GATA1  SF3B4  G6PC3  NXN  ACTG2  EPG5  SETD2  COL1A1  HJV  DNAAF3  TXNL4A  MYH3  NKX2-5  HSD3B2  LIG4  MKKS  LMNA  ATP11A  FBLN5  PDE6B  KRT83  NRAS  PALLD  APOE  CA4  ARL3  PADI4  TCTN1  HBA1  RAF1  LIPA  HLA-A  PCNT  SAMD9  VWF  ATN1  CRB1  ALX4  BMPR1A  TWNK  FKTN  PIGL  TGFBR1  STAT4  HESX1  SMARCE1  DVL3  ZFPM2  RPL10  EBP  XYLT2  CCBE1  EPG5  TET2  FLNA  NR3C1  MRPS14  PEX3  GATAD1  SFTPC  SUGCT  HLA-DQB1  NPPA  RET  RPL26  WNK4  LZTFL1  PQBP1  STAT1  SLC35A1  FGFRL1  KISS1R  CASP10  CACNA1C  RAD21  MYD88  GLA  B3GLCT  GP9  RAP1B  CTNNB1  PAX6  SERPING1  PTEN  ATP2C1  TMCO1  CD244  TTN  TNXB  FGF20  RPS10  ELN  KRT16  SMARCAL1  COL4A2  BCL2  EMG1  BOLA3  HADHA  TGFB3  PKD2  LEPR  NAGLU  RAG2  ABCC9  ELN  IDH3B  ETHE1  MITF  RPL26  ITGA2B  LMX1B  PNPLA2  BLM  INHBA  CASK  ESR1  CALR  VPS13B  SNX10  GNPTG  SLFN14  PIK3CA  NOTCH2  B3GALT6  CLCN7  CLRN1  DSE  PPARG  PKP2  STEAP3  ADA  KRAS  TTC25  DLST  LOX  LOX  UFD1  F2  EIF2AK3  NOTCH1  NEB  DMD  BRAT1  HGD  LIFR  TMEM67  KRT1  TCIRG1  APOE  WDPCP  GNA11  RYR1  ATP8B1  MYH7  SDHAF2  CHST3  CXCR4  RBM8A  SOX9  NF2  CASK  LMNA  PEX13  RPS29  ESCO2  CFAP221  EHMT1  F10  NF1  DNAI2  ACTA2  TTC8  CD70  CCDC114  TMEM70  LTBP4  KCNH1  FAS  POLA1  PPP1CB  TCTN2  SH2B3  SDHC  VPS33A  ESCO2  DCC  GJA5  CISD2  NID1  PAX3  TTC8  CCNO  DCHS1  CHRM3  B9D1  ISG15  PEX11B  FADD  SLC4A1  SELENON  RNASEH2B  IDUA  AVPR2  TRNE  KCNK3  RSPH9  TFAP2A  SLC12A3  F5  TCTN3  COX7B  PIK3R2  MYC  ARL6  CCN2  PLOD3  CBS  FGB  GATA6  SMARCB1  ABCA3  SCARB2  DIS3L2  POMT1  SCO2  UBE2A  WT1  PIGS  TRNK  TGDS  WDR19  FKTN  PNKP  POMGNT1  IL17RD  SCNN1A  HBB  MERTK  COL1A1  KCNJ11  POLE  PPP2CA  STAMBP  AGT  SOX18  TGFBR2  FGA  ERCC8  MYMK  SCN9A  MYBPC3  NDUFS2  VCP  CDKN1B  B3GAT3  KIF23  JAK2  MTMR14  PDE6A  ANK2  STXBP1  RPL35A  NFIX  XPC  CRYAB  COL5A2  GREM1  ARF1  TTN  LYZ  HBB  FLRT3  DNAH1  CEP290  SNRNP200  DHCR7  HBA2  KRT1  RPGRIP1L  MYL3  MYH7  AEBP1  HBA1  CFAP300  HNRNPA1  MTO1  KDSR  FKBP14  SOX10  RRAS2  COL11A1  DISP1  KRT5  CENPE  SH3PXD2B  COX6B1  LMOD1  ATP6V1E1  MFAP5  SARDH  SLC25A24  GMPPB  RLBP1  NRAS  ADA2  GCDH  EDN3  SMAD4  SEC23A  SDHD  TOP3A  CDH23  CLIP2  CTBP1  REEP6  PARS2  USB1  ABCB4  PRDM5  AARS2  CYLD  MMP21  SRP54  KCNJ18  CFHR3  STX11  TBL2  FGG  ALMS1  DNASE1  DMRT3  NPHP3  DNAI1  NABP1  TSC1  LMBR1  GUCA1B  IRF8  MKS1  FANCG  ZNF365  MEOX1  ARID2  GALNS  TRPS1  SLC39A13  CD3E  NKX2-5  ELANE  COX1  GNE  SLC26A3  MED12  MYOT  COMT  GJB4  KCNJ2  AGA  ELN  CDKN2A  WWOX  COA5  GJB6  STIM1  SRCAP  SLC7A7  IFT122  TBX22  DHPS  LMNA  SPECC1L  TRNH  PEX10  ARID1A  IDH1  FGFR1  CASR  CHN1  MAFB  SCN2B  SRP54  TRNL1  BBS1  SLC26A2  AAAS  TUB  CPT1A  KRAS  KMT2A  TNFRSF13B  GABRD  GP1BB  VPS13A  RP9  ARSA  OSGEP  MRPS22  DIS3L2  INPPL1  NDUFS4  ACAD9  TRPC6  CD96  DCAF17  TTC7A  JAK3  COL2A1  NLRP12  NEK1  SETX  TRNS1  KCNE2  SCN5A  NPHP1  STK36  TPM1  IL7R  PRDM16  OFD1  XRCC2  CD19  KCNJ18  FBLN5  NDUFB11  CYBB  RIN2  WT1  APOC2  KIT  KCNJ1  PLEC  MAPT  CAV1  NDUFS6  SMAD4  PRKAR1A  PDGFB  HNRNPU  SOS2  KIT  GJA1  GNAQ  P2RY11  TRNW  YWHAE  TGFB1  AHI1  KYNU  NOTCH1  C1QA  TIMMDC1  PSAT1  KIF1B  P2RY12  DKC1  TAB2  CKAP2L  STK11  LMNA  ERCC6  RBBP8  CDSN  POGZ  DST  GTPBP3  RPL15  SCN9A  TMEM216  SMARCE1  WARS2  TTN  FASLG  RPGR  RGR  NDUFAF2  LTBP4  NFE2L2  XYLT1  PPCS  OFD1  C3  ND4  SNRNP200  ERCC6  FGFR1  FBN1  RYR1  DPF2  PAM16  ECHS1  BSCL2  FASLG  KIF7  PROK2  MEOX1  ZMYND10  TBXAS1  PTPN22  TCIRG1  ERCC2  LTBP2  CKAP2L  DSP  IQCB1  DLL4  CHRNG  BAG3  SCAPER  CPT1A  RPL27  FLNC  GATA5  FN1  CC2D2A  MYH11  AUTS2  ERBB3  PTPN11  EBP  PARN  RARA  RNF113A  HELLPAR  PEX7  TEK  ICOS  IFNG  FZD4  GLRX5  TWNK  ROBO4  FBN1  NOS3  CYP3A5  TRNK  MYRF  KAT6A  ENG  PCCB  MNX1  EZH2  TALDO1  DNAAF1  CDK13  TET2  HPS6  AGK  PHOX2B  JAG1  RBM20  LMNA  DUX4  MCCC1  PTF1A  BRAF  TSC1  GNB5  FUCA1  IGF2  VPS45  ACE  TPM3  TTN  TMEM67  CYP11B2  ELMO2  PTCH1  ZFPM2  SIK3  BUB3  ACTA1  CYTB  PLCG2  NAA10  SLC4A1  TSC1  SLC2A1  LDLRAP1  TRAF3IP2  TCTN3  LIG4  DHODH  TP53 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SMAD3  MLX  GPC3  PIEZO1  UBR1  NONO  BIRC3  RNASEH1  KIT  COL5A1  RHO  RP1  TRNS1  CACNA2D1  STRA6  TP63  CASP10  PIGL  EYA4  ATRX  TERT  WDPCP  SLC40A1  NDUFAF4  SDHD  DNAAF4  BAP1  PROC  LMNA  HMCN1  ARL6  EPB41  RDH12  NGLY1  POLG  PSAP  WAS  GYS1  TXNL4A  TRPM4  CTU2  ENPP1  TRMT10C  LRP5  HSD11B2  NT5E  RAB23  INPP5E  DYNC2LI1  ARL2BP  SPRY2  PNPLA6  GYG1  TBX1  ADAMTS2  NPC2  CYP7B1  PTDSS1  KIAA0586  CAV3  ERCC5  GBE1  ALG9  RNASEH2C  ANKRD26  NRXN1  SLC22A4  FLNC  CHRND  NPPA  BUB1B  TAF1A  SMPD1  SCNN1G  EDA  GATA6  BCOR  DMD  MYH7  PET100  SF3B4  TRAIP  CACNA2D1  SCNN1A  EOGT  ASS1  ALG10B  PSMD12  BMPR1A  DNAH9  RAI1  PIK3C2A  RAG2  CDAN1  PRPF8  CACNB2  NDUFAF2  COG6  B9D2  RUNX1  PRCD  SDHC  MED12  DOCK6  IL12RB1  ISCU  TPM2  ECHS1  RNF6  ACADS  CWC27  CD247  RNU4ATAC  IGH  TMEM126A  ATP6V0A2  IARS2  TRPM4  COA8  POMK  LIPN  ZNF408  ACVRL1  VPS33B  KCNQ1  ERCC2  LMNA  FOXE3  RECQL4  SMAD4  TPP2  RNU4ATAC  SLC52A3  PCCA  SOX4  ND2  KCNQ1  GATA6  SH2B3  PDGFB  PIGM  MIF  C1R  ND1  NDUFA2  BBS7  COQ2  SIX3  POU1F1  SFTPB  EXT1  NOS3  GATA6  ATAD3A  CHD7  SMAD4  CRB2  DOCK8  TAZ  DVL1  LETM1  FKRP  FGFR2  ATP6AP2  CR2  ARID1B  LRIG2  GNAI3  MYH6  AKR1D1  HNRNPA2B1  PDSS1  NHLRC2  GPC4  DCLRE1C  TOP3A  CPN1  LDLR  KRIT1  NEBL  TMC8  MRAP  DUSP6  TMEM94  COG4  KIAA0319L  SLC52A2  SDHD  EPHB2  GNAI2  SMARCC2  ALOX12B  AGGF1  GPR101  POLR3A  SMAD3  GJA1  GPI  ITGA3  CFI  TGFBR2  ALG1  TWNK  RAD51C  DNAI2  MINPP1  APOA1  MTFMT  ITGB3  FCGR2C  WWOX  AFF4  FLNA  SEC23B  SCN3B  ABHD5  MED13L  GLA  NDUFAF1  SETD5  DYNC2LI1  TCOF1  CALM1  KCNJ11  MAP2K2  PIK3R1  CTSK  KLF1  VHL  ATP6  CST3  IL6  TBX19  RAD51C  DDX59  RMRP  POGZ  DNAH11  ANK1  PDGFRB  LRP5  COL5A2  DNAH11  RPL35A  TRAPPC11  NT5E  APOB  PDE6D  PAX3  KCNQ1OT1  ACAD9  FANCD2  SLURP1  GAS1  BMPR2  SOS1  NEXN  MYOZ2  RFC2  TKT  KCNE5  TGFBR2  PTEN  PKP1  WIPF1  IL7  HIBCH  TNFRSF1B  LBR  GJB6  SLC37A4  FBP1  TERC  SRY  RPS6KA3  IDS  IL17F  MEFV  FIBP  MPLKIP  RPGRIP1L  GP9  SCNN1B  DCDC2  KIAA1109  AIPL1  HLA-DRB1  SMCHD1  RET  GFI1B  COG2  FGFR2  TRNK  SEMA3A  GBE1  TAF2  ACTC1  COL1A1  SOX5  LYST  NAA10  PLP1  FANCA  NSMCE2  CYBC1  HLA-DPA1  LBR  ANKRD11  IDUA  UVSSA  GNB5  DPM1  TAPT1  CLCN7  CLCF1  MKS1  SPARC  ATP6  ARX  BBS2  DNAAF2  PLVAP  IL7R  SMG9  BBS2  TSC1  FUT8  WT1  NPHP1  HLA-DRB1  TNNT2  BRAF  SLC29A3  TTN  NSMCE3  NMNAT1  ACTA1  TACR3  AKAP10  ITGB3  ND4L  FRA16E  RAB23  PDSS2  NDUFV1  SMOC1  SCN4B  CERKL  PLD1  CSRP3  PTPN11  RNASEH1  GLI3  ABCA1  RASA1  NRAS  PLIN1  TP53  ALPL  IGHM  SDHB  PALB2  TRIP11  SMAD4  TNPO3  GBA  FECH  ABCD4  ADD1  ZNF469  TREX1  HOXA13  IGF1R  AIRE  KCNE2  GUCY1A1  HPSE2  TSC2  GGCX  ABCC9  ANO10  UCP2  MCM4  DOLK  DCTN1  ERAP1  MSH6  COPA  PEX12  F13A1  VEGFC  HRAS  PIGO  SLC25A24  SOX10  KCNE3  BRAF  CRYAB  TERT  BIN1  CRX  HBG2  EXOC6B  KLHL7  POLR1C  TNNC1  ALMS1  NLRP3  ITGA8  CHRNA7  LIPT1  KIAA0556  KDM6A  ERCC3  PQBP1  BBIP1  EVC  CTLA4  BANF1  CDK10  CHST3  FTL  GNE  BRCA2  AHI1  GNAT2  SCARF2  EDN1  KCNH2  DHX38  HLA-DRB1  PGAP3  DNAAF3  GPC4  KRT5  POMT1  HLA-DRB1  SCN5A  TXNRD2  TET2  GATA6  ACAD8  MVK  EOGT  ND1  ADAR  PDE8B  DNAAF6  EPHB4  DMPK  TPM2  SDHA  NPHP1  FRAS1  GCH1  FGD1  C4A  PSAP  COA6  AGPAT2  SOX2  BMPR1A  USP9X  NFKB1  FANCC  IL2RG  MEFV  PKHD1  ZNF423  KRT14  MVK  RB1  CITED2  EXT1  PLN  GJB2  UBE2T  NKX2-5  SELENOI  DNAH9  SCN4B  GMPPB  COL2A1  FERMT3  SCN5A  BCOR  ND1  TNNT2  GAS2L2  MTM1  RECQL4  GPD1L  ARPC1B  SPINK5  ERCC4  B2M  ZNF513  MMP2  GATA4  COG4  BRCA2  FHL2  PKD1  BSCL2  PLEC  WT1  HYMAI  TAB2  CASR  MYLK  KCNN3  TCTN3  MAP3K7  TRNQ  TBX1  TMEM216  RORC  FOXE3  LAMA2  ADK  MBTPS2  WT1  KYNU  ECE1  FLNA  PLOD1  PDE11A  KLF1  TCIRG1  NKX2-6  NR2E3  SOX4  COL7A1  IFNGR1  CPT2  GLI3  PLAGL1  CDKL5  SUFU  PRCD  SCNN1B  FOXA2  PTGIS  FOXF1  SCN5A  C12ORF57  NDUFA11  DGCR2  FBN2  PORCN  SDHB  ASAH1  PKD1L1  TRIM28  SLCO2A1  PUF60  KIF7  BMP2  BRCA2  NDUFS2  RP2  STEAP3  FIP1L1  NDUFS2  PRF1  CITED2  NDP  KCND3  TMEM107  NPM1  ITK  TNXB  NTRK1  JAK2  COL6A1  CASQ2  AMMECR1  COX20  AIP  PRPH2  ATP7A  FANCI  NKX2-5  PHKG2  ACTC1  TGFB2  ITGA2  CIZ1  ARMC5  ALX1  NUMA1  CDKN2A  FUCA1  AIP  NRAS  RIPPLY2  TSFM  PRRX1  NEXN  FBN1  FGFR1  CA2  KLF13  SACS  SPTB  SNIP1  SOX11  REST  VHL  HEXA  AKT2  CAPN5  TNFRSF11B  EED  GALNT3  XPA  FGFR3  GPD1  CORIN  NEU1  SERPING1  FANCA  LAMB3  CD79B  PEX6  PRDM16  LYST  FOXE3  GNAQ  FOXRED1  DTNBP1  PAX8  CCDC174  PIEZO2  BGN  HADHA  CYP17A1  GATA4  GATA4  HBB  THOC2  RARB  FGF23  TCOF1  ARMC9  ANTXR1  COG1  KRIT1  TACO1  ELOVL4  AP3B1  GATA2  CEP41  ATM  TNNC1  PRKCSH  AMMECR1  FASTKD2  CCDC151  HBB  NDUFA6  GBA  CACNA1S  JAK3  SPTB  CDKN1A  TP63  ACTC1  ALOX5AP  ALDOB  RSPH3  TRIM28  NDP  EBP  BEST1  CCN2  FGFR2  LEMD3  PTPN22  PDCD10  KAT6B  NSD1  SP110  AGL  ZEB2  SP7  TRNC  ACTA2  PCGF2  C4A  CLIC2  NDUFA13  PRKACA  CD27  FANCC  IDH2  EVC2  NDUFB9  LPIN2  TCAP  MEGF8  RREB1  TTPA  PEPD  RNU4ATAC  STK11  TGFBR2  HESX1  PLAGL1  APC  TET2  SDHA  BTK  DSP  SCO1  HIBCH  CANT1  PHKG2  CD81  WDR60  PIGY  PHYH  ATP6AP1  NLRP1  TMEM126B  ATP6V1E1  MAP3K20  TNFSF12  KAT6B  FLT1  ADA  IGFBP7  KRAS  CPLANE1  IFT43  CLCNKB  DNAJC19  RIT1  GP1BB  LDB3  NDUFA1  NSD1  CSNK2A1  SDHC  LACC1  F13A1  RPL11  ND6  CRELD1  ABCC8  OTX2  WDR35  TARS1  TRNV  ND4  MYH7  NDUFS8  NEK2  PLEKHM1  COL4A1  PHOX2B  TRMU  TACO1  DPP9  TNFSF11  SIX6  SLC19A2  IDH2  RBCK1  RAI1  CDKN2B  ANK1  KRAS  POLD1  CACNA1S  LRRK2  MECP2  G6PD  SCN3B  LAT  C1QBP  ANGPTL6  TNNI3  PDE11A  ATP6V0A2  LCAT  SPECC1L  APP  FBN1  CASQ2  GATA1  PDGFB  COL18A1  BRAF  MGP  TRNV  NAGA  LAMP2  AGA  TPI1  GATA6  TAZ  ABCC8  MUC1  AMER1  TBX1  HPGD  MAP3K7  NDUFAF4  FGG  CFAP298  CDHR1  ATP6  PROS1  GDF1  SLC18A2  NPC1  USP8  PGAP2  NEUROG3  CAV3  ABCC9  GATA4  ANTXR1  JAK2  FGFR2  VCL  COL1A2  GP6  TALDO1  FHL1  ZFP57  PIGT  ABL1  PPP1CB  COL3A1  FANCM  MAX  NEXN  IGHM  BIN1  MITF  RAF1  ZNF423  HJV  KDM6A  CFI  POLH  KLHL41  PGM3  IL12A  PSMB8  PEX5  EGFR  ARID1B  CYP11B2  PDGFRB  PNP  DDB2  APOE  CR2  NCAPG2  ACADL  KRT10  HADH  RBM10  TRNF  IFIH1  ADCY5  PEX3  DNAAF5  BRAF  LRP2  DYNC2H1  COL6A2  F8  CD19  ACADVL  ABCA4  TRIP13  AKT1  SLC2A10  CYBA  TTC37  JAK2  NSD2  WDR35  GP1BB  TP63  PDX1  TERC  CD19  F13B  NLRC4  FANCE  PLIN1  IDH3B  COL4A3  GPX4  BCHE  CYP27A1  ABCA4  SETBP1  NDE1  DCLRE1C  BAG3  FBN1  MCCC2  SMAD9  IL7R  PIGO  COL4A5  NOD2  ARFGEF2  TRDN  FOXJ1  NDUFA10  MYH8  POR  PIK3CA  XYLT2  DNM2  TERC  GNA14  KRAS  SLC2A1  NSD1  ANK1  MAP2K1  CACNA1H  FRG1  CACNA1S  NAGA  AKR1D1  WAS  SHH  SMC1A  ADA2  NDUFS8  CRYAB  LRRC56  RAB3GAP2  STAT4  NEK9  KDM5B  ATRX  EDA2R  SOX3  MYH9  SH2D1A  CCND1  RAD21  PEX19  HABP2  KLHL7  CDC42  NEB  SCO2  MAPK1  CYP26C1  KCNQ1  KCNJ2  JUP  HOXA1  ANKRD11  LMNA  EPCAM  NR0B1  DVL1  ELP1  HSPA9  PEX7  ABCC9  DKC1  ROR2  NR3C2  GLB1  IRAK1  DGUOK  ENG  BCR  MECP2  PHKA2  FN1  SLC7A14  MC4R  MAN2B1  POMT1  PIK3CD  ARL13B  CCDC8  HTRA1  CALM1  IVD  ITGA7  IKBKG  TERT  RBM8A  PHF21A  NFKB2  AVPR2  MPL  RPL18  GPC6  CLPB  FLNA  TP63  TRIM37  PORCN  COQ2  ADGRE2  TTC8  NDUFV2  ANTXR2  PHGDH  FGFR1  C8ORF37  SF3B1  COL4A1  SCNN1B  DOLK  SLC25A11  TP63  XRCC4  TMEM43  FOXC1  PRKCD  CCM2  PTPN14  COQ2  PIGA  MPL  LRP5  HMGCL  ZMPSTE24  NR5A1  TNFRSF4  CA2  IFT172  AP1S1  CIB1  KCNE1  HTRA2  DNAAF2  HGD  SLC25A11  SCN5A  SFTPA2  FBN2  MYH6  GNAO1  FBN1  ACTG1  NDUFAF5  RSPH1  TNNT2  SUMF1  SALL4  DNAL1  IRF6  UNG  IL2RB  RRM2B  CEP290  PLN  ALDH18A1  ERCC6  ALG8  MYOC  POLR1A  CFAP298  RBM20  GNPTAB  TP53  MYPN  PUF60  MANBA  TRNF  CYBA  TBL1XR1  PEX5  UBE3A  EP300  CTNNA3  ATPAF2  ACD  EFEMP2  GLI2  PCCB  RBPJ  ICOS  CTSA  KIF11  PEX5  HYLS1  CEP104  AP1B1  MYLK2  OTC  BPGM  NKX2-5  PTEN  LZTR1  HLA-DQB1  LEMD3  SLC4A1  FGB  RYR1  SEC23A  SPIB  RLIM  DGCR6  MST1  FGG  TTR  F5  CD28  RNF113A  MGP  RAF1  SDHA  MAB21L1  MEN1  CEP41  ND5  MMEL1  SLC25A3  GJA1  POLG  SCN4A  SUFU  ZIC3  HPS5  ADAM17  SOX2  RHAG  BVES  TNFRSF1A  ATP7B  HADHA  MIB1  NFIA  GJA5  HSD11B2  PEX2  FLNA  MYPN  ATP2C1  ACTN2  KCNH2  PROM1  INPP5E  TCTN2  MAF  ITPA  PRPH2  BCS1L  EIF2AK4  MNX1  NGLY1  LRBA  POLG  RMND1  VHL  RUNX1  FANCD2  CLCN7  FLI1  DLEC1  MSH2  CCNQ  FGFR3  SFTPC  HMBS  GNAS  ZIC3  COQ9  JAG1  TULP1  APOE  NDUFAF5  SMPD1  ITGA2B  IDH1  CACNA1C  SCN10A  PEX11B  SDHD  KRAS  NPM1  PRKG1  USP8  JAK2  MPL  SRD5A3  FOXP3  SCNN1G  TTC8  HSPG2  DDRGK1  PRKAR1A  FGFR1  SGSH  FGA  NRL  HPS4  BTNL2  CCDC40  ABCC8  PEX16  BTK  DGCR8  KCNJ5  ACTC1  LEMD3  OTULIN  PGM3  PSAP  CAV3  SCN9A  LMNA  HLA-DRB1  COX3  FOXF1  FLNA  RBM10  SLC12A1  DSP  MASP1  TRDN  CIITA  LMNA  INVS  TOPORS  MAFB  ARX  SOX9  DNAJC21  CD79B  LIG4  FREM2  MAP1B  SNTA1  BTNL2  DES  GDNF  POLG  CUL3  AKAP9  ACTB  TNFRSF11A  ZBTB16  FOXRED1  HACD1  ERCC3  PIK3CA  ABCC6  COX4I2  GATA5  TWIST1  RB1  BCOR  STAT5B  NLRP3  RPGR  CSPP1  COL7A1  PHYH  OTX2  HPGD  KRAS  AK2  CALM1  RASA2  SLC35A1  MS4A1  REN  CCDC151  PEX6  PSMD12  POU3F4  IGF2  STOX1  RFWD3  GGCX  HYMAI  CYP21A2  IFT81  UROS  LFNG  HADHB  NOP10  CSRP3  STXBP2  HLA-B  COQ2  SUMF1  RAP1A  HBG1  NHP2  GSN  FZD2  NDUFS4  XK  CCDC65  SIK1  GJA5  SLC25A20  SIM1  COL11A2  CRLF1  GBA  GJB4  KCNMB1  GPD1L  KIF7  SLC29A3  CCDC39  CRPPA  GBA  NAXD  BMPR2  CFH  CHST3  ITCH  LRRC6  CFC1  PIGY  HOXA11  MYCN  NUP155  INTU  MED13L  HLA-DRB1  PHGDH  TRIP13  NOTCH2  SULT2B1  TBX20  AICDA  GLMN  COQ4  COLGALT1  HAMP  CC2D2A  KCNE2  THOC6  ENPP1  PYCR1  ALPK3  FLCN  MAX  PALB2  MKS1  LPL  PRPF3  CD46  IKBKG  HCCS  SDHD  DIS3L2  PDGFB  FHL1  RAG1  UMPS  HDAC8  SPRY4  IL23R  HCCS  MRE11  CTLA4  ND6  SLC39A4  WT1  EPHB4  KYNU  TTC25  MC1R  ATP7A  NOTCH3  TOPORS  HLA-B  MYOT  LMNA  KCNQ1  KBTBD13  ZAP70  ATP8  STAT3  FLT4  TAZ  CC2D2A  RPS15A  NAGS  ARMC4  DSG2  TGM5  F13A1  FADD  TECRL  CARD11  ATP6V1A  OFD1  LRP2  RAF1  XYLT1  PRNP  CTC1  SDHB  FMR1  KIF1B  MPL  CD2AP  CASR  TRRAP  SOX2  ICOS  DCDC2  NKX2-6  PLEKHM1  SLC25A4  WNT10A  G6PC  PRKAR1A  THBD  CLIC2  RPE65  C1R  BRCA1  SCN10A  RPS19  NEK8  ATP6V1A  ARMC5  PRRX1  DSG4  AIP  PPA2  AHCY  LTBP2  ALDOA  COX3  POMT2  TMEM126B  DPH1  VAC14  RAG1  LBR  TAB2  NOS2  PRPF3  GATA5  FAH  CYP11A1  IL36RN  TANGO2  CCDC39  NPHP3  NLRP3  COL4A3  GATA6  ACTA2  WNK1  ADAMTSL1  XPA  UBAC2  COL1A1  TINF2  PPARG  SDHB  AKT3  PDCD10  RAG2  ND2  CTNNB1  PRPH2  NPHP1  PET100  SCN1B  FKBP14  LMNA  SARS2  ERMARD  PDE6G  RECQL4  SAG  FGA  GMPPB  GUSB  SLC25A3  XPC  SP110  PRKCSH  TET2  PTCH1  FBP1  GATA1  ABCC9  POLH  RHOH  AGTR1  GNB3  GUSB  EPHB4  TBC1D24  SPAG1  DNAJC13  NIPBL  TNNI3  ND5  JAK2  CRELD1  DPM3  CDKN2B  F2  DSG2  CDON  GNPTAB  SBDS  RASGRP1  NSDHL  FKRP  ENG  SURF1  COLQ  TBX5  EYS  SLC19A3  MPL  WNT4  HSPG2  PEX19  SMC3  FN1  GPC1  BMPR1A  FGFR3  SCN5A  ENG  CPT2  CTSB  COX15  DYRK1B  NOD2  FANCF  ND2  TRPV3  HEXB  CRYAB  RPE65  LARS2  GLRX5  MYLK  FKRP  SURF1  IL12B  IFIH1  PLOD1  TRPM4  TMEM43  MLXIPL  BRAF  DHCR24  DPM3  POU6F2  SFTPA1  HCN4  PRG4  MYH7  LIG4  AGXT  CEP290  SHANK3  BRAF  SAMD9  ABCD3  SCN5A  ELAC2  NDUFS2  SDCCAG8  COQ2  SEC23B  MUC5B  TGM1  APP  CLN3  XPR1  YY1AP1  KRAS  PPOX  DNAAF4  CLCN2  SLC17A5  IL12A-AS1  THPO  ND4L  FH  IDUA  HSD17B10  ADAMTS10  FXN  SAMHD1  SPTB  RPS26  RPS27  ASCC1  TCF3  SLC29A3  JUP  MYBPC3  F9  LAMB2  ALOXE3  CLEC7A  FXN  SKI  GPC3  BCL11B  ITGA2B  CST3  SERPINC1  MGAT2  TWNK  MEIS2  HFE  DVL3  SLC20A2  PIEZO2  NDUFB11  MPL  NUP107  NDUFA10  CHKB  GP1BB  APP  FGFR3  PACS1  DMD  CYP11B1  TRNK  IL1RN  CEP120  WNT5A  MYH11  RAD51  SCYL1  NDUFS1  ADAMTSL2  SKIV2L  WDR11  ZDHHC9  PPARG  KIAA0753  CAV1  PRF1  CSF2RB  SC5D  PDE6A  KCNQ1  RBP3  POLG  RTEL1  VHL  NSMF  EMD  TDP2  TK2  RNF125  BRAF  ASXL1  SCN5A  FOXC2  FIG4  TP63  PCSK9  INTU  IMPDH1  TERT  ANKS6  SYNE1  NIPBL  COL4A1  ARX  IFT80  PTPN11  ARSB  HAAO  HSD3B7  VHL  CEP120  GDAP1  ASAH1  STX16  RPL5  LDB3  GATA6  RRAS  SPECC1L  HCN4  SERPINC1  F11  UNC13D  DOLK  LIMS2  GDF6  RPL35  TSC2  IL12A  KLRC4  LMNA  CTCF  TBX1  FOXRED1  ADAMTS3  PLG  EPB42  USP9X  GLI3  GJA5  SMAD4  KCNJ5  WT1  ELANE  CEP290  NLRC4  FANCB  RPS15A  NDUFB11  SNTA1  SYNE2  XYLT2  ELN  CREBBP  ATF6  CYP11B1  PMPCA  ETHE1  KCNJ5  ANTXR1  BAZ1B  TNNI3  EHMT1  KRAS  ARHGAP31  COA8  NBEAL2  MED12  RGR  KCNQ1  NXN  COL2A1  FHL1  LMNA  NEU1  RERE  DACT1  GDF1  UBE3B  HTRA1  FGFR2  NME8  AQP2  IL17RC  FAN1  PIGQ  CBL  PROP1  HK1  SMC3  BMPR1A  ABCA12  CFB  ITGA2  FGG  PMM2  ABCC6  MARS2  TERF2IP  TNFSF12  KDM6B  MDH2  PIGP  MKS1  FMO3  PCNA  TTC7A  SLC39A4  SGCD  IRF5  NLRC4  CTNS  SLC4A1  RPL10  SLC25A26  PKLR  TNFRSF13B  DEAF1  COG8  NEUROD2  MRPS16  COL1A2  KRAS  SAMD9L  LDB3  NDUFS2  OFD1  KCNQ1  FBN1  LMX1B  FBLN5  PTEN  TRIM32  PEX26  LRP5  ROM1  RRM2B  TWIST1  COL25A1  WNT10A  AMMECR1  COG4  HLCS  HCN4  NR2F2  TSC2  MYLK  LRAT  WFS1  ND6  SRY  SMOC1  FAM149B1  PLEC  TPM3  KRT9  ACTA1  SETBP1  OTX2  CEP164  BBS2  RTEL1  PIK3CA  AP3D1  MBTPS2  H19  FMR1  CCND2  BBS12  TJP2  TEK  FIG4  ABCG5  ABCC9  CACNA1S  USH2A  GDF2  SOX18  CYBB  C8ORF37  RYR1  GAA  OTUD6B  RAG1  PTH1R  TNNI3K  CYP17A1  COL4A1  TRNS2  ERF  ERBB3  TNNT2  TF  CAV1  PEX1  TFRC  ARL6  C1S  PIGT  PRDM16  SEMA4A  KIT  PPP1R15B  PRKAG2  PCNT  HDAC4  A2ML1  CHD7  LMNA  HYLS1  KCNJ2  PEX2  CTLA4  CEP120  CTLA4  XIAP  TRNS2  LIPA  TMEM67  BCL6  EPB41  RNF135  FHL1  IGLL1  FBN1  KCNJ8  GALE  NDUFAF1  CCDC28B  CFHR3  MED12  POMT1  TRIP4  IRF8  PEX12  DHCR7  TLR4  ACTA1  PIGN  PRKCD  PROKR2  AKT3  C2  SLC12A3  SDHA  CD109  RHAG  LAMC2  XIAP  ASXL2  CDKN1B  CHD7  IGH  AGTR1  FLNA  SNRPB  WNT3  LAMA4  CHRNA7  HADH  NOTCH3  TBX6  STING1  PEX6  CD40LG  ZMPSTE24  SEC23B  RAB27A  ABCB6  GATA1  NBEAL2  SEMA3E  GPIHBP1  EXT2  PEX19  NRXN1  WIPI2  HADHB  PALB2  UROS  CHD7  CTNND2  BRIP1  TCIRG1  SOX3  AQP5  TBX1  MYL4  VWF  DNAJB13  CPT2  RPS28  FSCN2  KCNE1  NDUFS8  ABCC6   hr>
Atrioventricular canal defect 
Genes 50
MAP3K7  LONP1  CDC45  PKD1L1  GJA1  PUF60  CRELD1  GDF1  GATA6  CRELD1  EVC2  NEK1  WASHC5  FOXF1  WDPCP  GATA4  GATA4  GATA4  GATA6  GDF1  GLI1  MMP21  NR2F2  CCDC22  RAF1  TBX1  KDM6A  BRAF  FLNA  FANCB  TBX5  PTPN11  ACVR2B  NKX2-6  NKX2-5  GATA4  DYNC2LI1  DYNC2LI1  EVC  HYLS1  GLI3  KAT6B  CFC1  ZIC3  DHCR7  GATA6  GATA1  INTU  NR2F2  TRIO   hr>
Pulmonary arterial hypertension 
Genes 126
LIFR  GDF2  CAV1  TNFSF11  ABCD4  GJA1  PAM16  ARHGAP31  SPECC1L  TRNH  AGPAT2  CHST3  MED12  ACVRL1  BMPR2  FOS  ND4  FGFR3  HBB  FGFR1  EIF2AK4  TRNL1  GBA  ACTA2  CCR6  CAV1  NOTCH1  COLQ  PIGA  DOCK6  TRNQ  MPL  SLC25A24  COG1  SFTPB  SMAD4  LAMA2  SMAD9  TRNS2  CAV1  LIPA  NOD2  SNX10  IRF5  KRAS  CAV1  BSCL2  ALMS1  FLNA  KRT18  GBA  TRNS1  LIPT1  BMPR2  BANF1  SFTPC  FIG4  KCNK3  FOXF1  FBN1  IRF5  PDSS1  CCN2  ENG  STAT1  SFTPB  IL12B  ATP5F1A  HSPG2  HLA-DRB1  COX1  PIGN  CCN2  CLCN7  HLA-B  TRNF  CACNA1D  EOGT  NFU1  ND1  VAC14  TERT  COL1A2  SCARB2  KIAA0319L  CAVIN1  TRNW  NOTCH1  COX3  FOXF1  JAK2  PPCS  GBA  COX7B  MUC5B  UBE2A  RBPJ  NKX2-1  GATA6  COL1A1  HLA-DRB1  COX2  CCR6  NFIX  THPO  ARHGAP31  HBB  ND6  SLC37A4  TCIRG1  IDUA  SARS2  ACVRL1  MGP  DLL4  SFTPA2  ND5  KRT8  PPARG  LAMB2  CACNA1D  IKBKG  TBX4  G6PC3  FIG4  MLX   hr>