SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01120964

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

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
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

2 Interventions

Name: Intravenous L-Citrulline

Description: 150mg bolus X 1 after initiation of cardiopulmonary bypass, the addition of L-citrulline at a concentration of 200 umol/L or placebo to the filtration and hemoconcentration fluid utilized during cardiopulmonary bypass in addition to a 20mg/kg bolus 30 minutes after separation from cardiopulmonary bypass immediately followed by a continuous infusion of 9mg/kg/hr IV, and ending at 48 hours continuous infusion or discharge from the PCCU.
Type: Drug
Group Labels: 1

Intravenous L-Citrulline

Name: Placebo of Intravenous L-Citrulline

Description: Placebo of Intravenous L-Citrulline given at the same prescribed times as L-Citrullne Drug
Type: Drug
Group Labels: 1

Placebo of Intravenous L-Citrulline


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.

Purpose: Prevention

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 T1405N

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 ---



HPO Nodes


HPO:
HP:0001671: Abnormal cardiac septum morphology
Genes 765
KMT2D ASCC1 PIGN FIBP RPS7 NXN UBR1 TRAIP UBR1 PET100 B3GLCT KCNA1 NFE2L2 PIEZO1 NKX2-5 ATP6V0A2 DHCR7 GTF2IRD1 KAT6B EFTUD2 MGP PQBP1 ARID1B ARX ATP6V1A PUF60 ARVCF LARP7 SETD5 TBX2 CCND2 FANCM SPECC1L RPL10 RPS15A TP63 YY1 NOTCH2 PACS1 NELFA RREB1 PTF1A GLI1 LETM1 ATP6V1E1 CTCF GATA1 CTBP1 IFT172 NPHP3 LRP5 EVC2 USP9X SNRPB TBX5 DSE SNX14 PEX11B CFC1 EFTUD2 SETBP1 GATA4 SVBP RPL15 PIEZO2 RAD51C ZIC3 NKX2-5 NKX2-1 CDC45 BUB1B PEX13 B3GLCT CLIP2 ADAMTS10 ELN ANKRD11 TBX3 SDHA TARS1 TTC7A ROBO4 IGF1R HIRA SPATA5 GP1BB DYNC2LI1 GDF1 GLI3 BRIP1 GDF1 VPS13B BRAF ZMPSTE24 SEC24C CDK8 FIG4 COL11A1 ELN HSPG2 EXT2 TBX1 SLC19A2 AGGF1 B3GALT6 PIGA RPL11 CD96 FANCG FOXF1 FOXC1 PORCN WAC MPL SIK3 SURF1 USP9X RPL27 SOX4 BRF1 CKAP2L EVC2 CRB2 SON EPHB4 MIR17HG DVL3 GPX4 NIPBL COX7B RPL11 CEP290 LTBP2 DLK1 SHOC2 WASHC5 FOXC2 KRAS ECE1 GJA1 CREBBP DGCR8 AKT3 SLC25A24 MEOX1 SPECC1L GJA1 PEX2 NDUFB11 HOXD13 TTC37 TRRAP DACT1 PALB2 PACS2 RELN RAF1 RPL15 ADA2 MED13L FANCD2 GATA5 SNRPB PEX19 MAP2K2 GPC4 MYOCD ARHGAP31 SMC3 NDUFAF6 FLNA SPECC1L FLNA AMMECR1 G6PC3 NFIX NEK1 MED25 PEX26 NF1 RPL35 FANCL KRAS NDUFB11 XYLT1 CPLX1 MGP PEX19 CDK13 RAB23 MED25 NCAPG2 ACADVL SEMA3E HRAS GATA4 TKT TAPT1 VPS33A MYRF COX15 NDUFA12 HRAS ADK MYCN RSPRY1 FLNB DLL4 CALM3 SMG9 SALL4 PTPN11 CRELD1 FANCI SOX2 NAA10 TMEM260 PUF60 COL11A2 HOXA13 ESCO2 CCBE1 FGFRL1 DPH1 KMT2A FANCF GATA6 MMP21 TBX3 MASP1 PIK3CA KMT2D GATA6 SLC19A2 WDR37 CDK10 RPS19 PNKP PEX3 KAT6A FLI1 SLC29A3 STAT1 PAX3 SNRPN MEGF8 TGFBR2 ZEB2 FADD RPS17 UQCRFS1 ARID2 PIK3R2 RPL18 B3GAT3 SH2B1 TCTN3 LONP1 SLC19A3 MED12 NKAP TBC1D24 GJA1 PEX1 CHRM3 DMXL2 RAC1 FGFR3 KIF15 MYL2 FIG4 GATA6 UMPS CDC42 SKIV2L PDHA1 GLA ASXL1 DHCR7 GDF3 BRAF MRAS EVC FANCI NSD2 NUP107 NDUFS2 AMER1 CREBBP XYLT2 MMP2 MYBPC3 PEX6 NOTCH2 RPL35A CEP57 FGFR2 CEP57 PIK3R2 MYH6 RAD21 TBX22 CHD4 SYT1 CHST3 ZIC3 ECHS1 KANSL1 NDUFV1 SATB2 RERE POLR1A KDM6A GPC3 DTNA CASK DGCR6 TTC7A INTU ADAMTS10 GJA1 CKAP2L DDX6 NDUFA13 KAT8 AFF4 PQBP1 NDUFA4 STRA6 PCNT FANCA IFT81 TET3 ABCD4 SIK1 PTPN11 RPS19 TXNL4A RPL26 PHGDH RMRP STAG2 OTUD6B DVL3 KDM6A ECHS1 MAP3K7 STRADA PSMD12 NKX2-5 LBR PPP1CB PPP2R5D LONP1 TACO1 CTCF BRAF TGDS CWC27 BCOR PEX14 KANSL1 MAPK1 CARS1 CRELD1 NDUFS3 PEX16 NIPBL SMAD4 LIPT1 RPS28 NOTCH3 PEX1 DSG1 LRP2 MYMK PCGF2 FLCN MYCN IGBP1 DYRK1A BRAF RAD21 EOGT FGFR3 PAH RTL1 ESS2 GNB5 MKS1 RBM8A RARB TSFM NONO INSR MEIS2 DYNC2LI1 NPHP3 EXOC6B PIGN MMP14 NDUFA10 RPS26 TGDS PKD1L1 CSGALNACT1 ADAT3 GPC6 RPS17 APC2 GATA6 KIF7 MYH7 CNTNAP2 CANT1 PIGL PEX10 NKX2-5 PIGL TP63 TBX1 NSD1 RAI1 CACNA1C NR2F2 JMJD1C NKX2-5 CREBBP SHANK3 BUB1 NDUFS7 PALB2 TBX1 MTFMT NRXN1 XYLT2 ZEB2 TBL2 NEK1 TBX1 BMP2 PIGT ABL1 EVC STAMBP NDUFS8 DGCR2 METTL5 FANCE KAT6B EHMT1 HCCS HCCS NOTCH1 STRADA NDUFAF5 KIAA0586 MPLKIP CCNQ TLL1 LZTR1 SOS2 MEG3 RFC2 TMCO1 GYG1 KDM1A GATA4 NSD2 FANCC NF1 LIMK1 RPL5 SETD1A MPLKIP POLA1 PDHA1 LMNA B3GALT6 EP300 RIT1 RNU4ATAC MGAT2 BRCA1 STAG2 CRKL CACNA1D TASP1 CCDC22 SRCAP YY1AP1 CDKL5 COL1A2 RPS10 TTC37 FKTN LTBP4 VAC14 C2CD3 MEOX1 MCTP2 NEUROD2 ATN1 SEMA3E BRCA2 NUP107 TBX1 RNF113A BRAF HNRNPK RAF1 ALG8 PUF60 PIGP HNRNPU FOXRED1 TRIP4 HAAO SMN1 COG6 DDX11 MAP2K1 MKKS RSPO2 DNMT3A PRDM16 FGFR2 MED12 AFF4 LMNA SYNE1 TXNL4A TALDO1 ERCC2 DNMT3A BSCL2 ATIC RTL1 CCDC174 CHST3 SOX2 NDUFA2 NR2F2 EXT2 FBXW11 PIK3R2 NEK9 PPP2CA CITED2 TFAP2B LONP1 GPC3 TGFBR1 NDUFV2 ARCN1 GNPTAB NKX2-5 DYNC2I1 RERE FLNA FADD MAD2L2 SKI NOTCH1 NUP188 NDUFAF2 FANCB FIBP TBX20 MTFMT GLI3 PLD1 TBX5 SLX4 FOXF1 CHST14 SEC31A SMAD4 KRAS SIX6 RECQL4 ATP6V0A2 COX7B RPL31 FANCB RPL10 BBS2 PKDCC RPS26 WDR26 GABRD PLAGL1 SOS1 CACNA1D TRIM8 CCDC22 ZMPSTE24 RPL5 WNT4 RPS27 NODAL TCIRG1 SMARCE1 DYRK1A RPS24 VPS33B RPL35A NDUFS1 UFD1 HYMAI SLC29A3 FBN1 NOTCH2 BCOR UBE2T GTF2I SCN2A KAT6B ACTC1 GATA4 FBN2 PTEN KDM3B SF3B4 MYH7 MED13L MAP2K2 KANSL1 GTF2H5 FTO LRP2 RPL27 DNAJC19 SETD5 FUT8 TALDO1 PEX12 ASXL2 KIF11 FGFR1 MAP2K1 THOC6 POR UBE2A NFIX RNU4ATAC HNRNPK WNT4 SCN1B WDR35 GATA4 CHD7 SALL1 RBM8A STXBP1 KDM5B PIGO ACVR2B ALKBH8 NSDHL SMC1A CDH2 MAP2K1 NEK9 HSPA9 SETD2 ERCC4 LARS2 ERBB3 RAD51 UPF3B CTU2 PQBP1 OTUD6B ROR2 NDUFA9 HYLS1 PEX16 SMC3 GATA6 COG1 TBX1 XRCC2 FBN1 THOC6 GATA1 ZDHHC9 PACS1 ANK1 PEX5 TSR2 DPH1 TMEM94 GATA6 JAG1 RERE TBCK SLC25A22 LETM1 TKT BMP2 TBX4 HDAC8 CHD7 ZNF462 C2CD3 RFWD3 TNFRSF11A WHCR GPC4 CITED2 ATRX BUB3 NKX2-6 RBM10 NSD1 EP300 GDF6 MAGEL2 TRIP13 MLXIPL MEG3 VIPAS39 NDUFS4 RRAS2 BMPR1A PIGN ALG12 BCR NKX2-1 DLK1 RPS29 GNAO1 WT1 GTF2E2 ALG9 MYPN BAZ1B MED12 COMT KAT6A MID1 MEIS2 ARX COX7B WDPCP NR2F2 ERCC3 WASHC5 TGFB3 KCNAB2 TAB2 ROR2 AUTS2 CYTB KDM6A TRIO STK4 SALL1 DPF2 NONO IRX5 PIGQ NAA10 UBE3B
Protein Mutations 1
T1405N
SNP 0
HP:0001631: Atrial septal defect
Genes 435
KMT2D ASCC1 PIGN RPS7 NXN UBR1 TRAIP B3GLCT NFE2L2 PIEZO1 DHCR7 GTF2IRD1 KAT6B EFTUD2 PQBP1 ARID1B ATP6V1A ARVCF LARP7 TBX2 FANCM SPECC1L RPS15A YY1 PACS1 NELFA RREB1 PTF1A GLI1 LETM1 ATP6V1E1 CTCF CTBP1 NPHP3 EVC2 USP9X SNRPB TBX5 DSE SNX14 EFTUD2 SETBP1 RAD51C ZIC3 NKX2-5 NKX2-1 CDC45 BUB1B CLIP2 ELN ROBO4 IGF1R HIRA SPATA5 GP1BB GDF1 BRIP1 GDF1 BRAF ZMPSTE24 SEC24C CDK8 COL11A1 ELN HSPG2 SLC19A2 AGGF1 PIGA RPL11 FANCG FOXF1 FOXC1 SIK3 USP9X RPL27 EVC2 SON EPHB4 DVL3 GPX4 COX7B RPL11 CEP290 SHOC2 WASHC5 KRAS ECE1 GJA1 CREBBP SLC25A24 SPECC1L NDUFB11 TTC37 TRRAP DACT1 RELN RAF1 RPL15 ADA2 MED13L FANCD2 GATA5 MAP2K2 GPC4 MYOCD ARHGAP31 SMC3 SPECC1L AMMECR1 G6PC3 NEK1 NF1 RPL35 FANCL KRAS CPLX1 PEX19 CDK13 RAB23 MED25 NCAPG2 ACADVL GATA4 TKT VPS33A MYRF HRAS ADK RSPRY1 FLNB SALL4 PTPN11 FANCI NAA10 TMEM260 ESCO2 CCBE1 FGFRL1 KMT2A FANCF GATA6 MMP21 MASP1 GATA6 SLC19A2 WDR37 CDK10 RPS19 KAT6A STAT1 PAX3 SNRPN MEGF8 TGFBR2 RPS17 ARID2 RPL18 B3GAT3 SH2B1 LONP1 MED12 NKAP TBC1D24 GJA1 CHRM3 RAC1 FGFR3 KIF15 FIG4 GATA6 UMPS SKIV2L ASXL1 DHCR7 MRAS EVC FANCI NSD2 AMER1 CREBBP MMP2 CEP57 CEP57 MYH6 RAD21 TBX22 CHD4 SYT1 KANSL1 RERE KDM6A GPC3 GJA1 DDX6 KAT8 PQBP1 STRA6 PCNT FANCA ABCD4 RPS19 RPL26 PHGDH OTUD6B DVL3 MAP3K7 STRADA PPP1CB PPP2R5D CTCF BRAF BCOR KANSL1 MAPK1 CARS1 NIPBL SMAD4 RPS28 PCGF2 FLCN BRAF EOGT FGFR3 RTL1 GNB5 TSFM NONO INSR MEIS2 DYNC2LI1 NPHP3 PIGN MMP14 RPS26 TGDS CSGALNACT1 ADAT3 GPC6 RPS17 APC2 MYH7 NKX2-5 NSD1 RAI1 CACNA1C JMJD1C NKX2-5 CREBBP BUB1 PALB2 TBX1 XYLT2 ZEB2 TBL2 TBX1 BMP2 PIGT ABL1 EVC STAMBP METTL5 FANCE KAT6B HCCS NOTCH1 STRADA KIAA0586 TLL1 RFC2 TMCO1 KDM1A NSD2 FANCC NF1 LIMK1 RPL5 SETD1A POLA1 LMNA B3GALT6 EP300 RIT1 RNU4ATAC BRCA1 STAG2 CRKL TASP1 CCDC22 SRCAP COL1A2 RPS10 FKTN LTBP4 VAC14 C2CD3 SEMA3E BRCA2 BRAF HNRNPK TRIP4 HAAO SMN1 COG6 MAP2K1 MKKS DNMT3A FGFR2 MED12 AFF4 LMNA TXNL4A TALDO1 DNMT3A ATIC CHST3 NR2F2 EXT2 FBXW11 PIK3R2 CITED2 TGFBR1 GNPTAB MAD2L2 FANCB TBX20 GLI3 PLD1 TBX5 SLX4 FOXF1 CHST14 KRAS RPL31 RPL10 BBS2 PKDCC CACNA1D CCDC22 ZMPSTE24 RPL5 RPS27 NODAL SMARCE1 RPS24 VPS33B RPL35A UFD1 SLC29A3 NOTCH2 UBE2T GTF2I KAT6B ACTC1 GATA4 FBN2 PTEN MED13L KANSL1 RPL27 SETD5 TALDO1 ASXL2 KIF11 FGFR1 MAP2K1 POR UBE2A NFIX HNRNPK WDR35 GATA4 RBM8A KDM5B PIGO SMC1A MAP2K1 NEK9 HSPA9 SETD2 ERCC4 RAD51 UPF3B CTU2 PQBP1 OTUD6B SMC3 XRCC2 THOC6 GATA1 ZDHHC9 PACS1 ANK1 TSR2 DPH1 TMEM94 JAG1 LETM1 TKT TBX4 HDAC8 CHD7 RFWD3 WHCR BUB3 RBM10 NSD1 EP300 MAGEL2 TRIP13 MLXIPL MEG3 BMPR1A ALG12 BCR NKX2-1 DLK1 RPS29 WT1 BAZ1B MED12 COMT KAT6A MID1 MEIS2 COX7B WASHC5 TGFB3 ROR2 AUTS2 KDM6A STK4 SALL1 NONO IRX5 UBE3B
Protein Mutations 0
SNP 0
HP:0001629: Ventricular septal defect
Genes 483
KMT2D FIBP RPS7 NXN UBR1 TRAIP PET100 B3GLCT KCNA1 NKX2-5 DHCR7 GTF2IRD1 KAT6B EFTUD2 MGP ARID1B ARX PUF60 ARVCF SETD5 CCND2 SPECC1L RPS15A TP63 PACS1 RREB1 GLI1 CTBP1 IFT172 LRP5 SNRPB TBX5 PEX11B SVBP RPL15 PIEZO2 ZIC3 NKX2-5 NKX2-1 CDC45 PEX13 CLIP2 ADAMTS10 ELN ANKRD11 TBX3 SDHA TARS1 TTC7A IGF1R HIRA GP1BB GDF1 GLI3 GDF1 VPS13B SEC24C CDK8 FIG4 ELN EXT2 TBX1 SLC19A2 RPL11 CD96 FOXF1 PORCN WAC SURF1 RPL27 SOX4 BRF1 CKAP2L EVC2 CRB2 MIR17HG DVL3 NIPBL RPL11 CEP290 LTBP2 DLK1 SHOC2 WASHC5 FOXC2 ECE1 CREBBP DGCR8 AKT3 MEOX1 SPECC1L GJA1 PEX2 NDUFB11 TTC37 PALB2 RPL15 ADA2 GATA5 SNRPB PEX19 GPC4 MYOCD ARHGAP31 SMC3 NDUFAF6 SPECC1L NFIX NEK1 PEX26 NF1 RPL35 KRAS XYLT1 CPLX1 MGP CDK13 RAB23 MED25 ACADVL HRAS TKT TAPT1 MYRF COX15 NDUFA12 HRAS MYCN FLNB DLL4 CALM3 SMG9 SALL4 PTPN11 FANCI SOX2 NAA10 TMEM260 PUF60 COL11A2 HOXA13 ESCO2 CCBE1 FGFRL1 DPH1 KMT2A GATA6 TBX3 MASP1 PIK3CA GATA6 SLC19A2 WDR37 RPS19 PNKP PEX3 KAT6A FLI1 SLC29A3 ZEB2 FADD UQCRFS1 PIK3R2 RPL18 TCTN3 LONP1 SLC19A3 NKAP TBC1D24 GJA1 PEX1 CHRM3 DMXL2 RAC1 FIG4 UMPS SKIV2L PDHA1 ASXL1 DHCR7 GDF3 NUP107 NDUFS2 AMER1 CREBBP XYLT2 MMP2 PEX6 NOTCH2 RPL35A CEP57 FGFR2 PIK3R2 RAD21 CHD4 CHST3 ECHS1 KANSL1 NDUFV1 SATB2 RERE GPC3 DTNA CASK DGCR6 TTC7A ADAMTS10 CKAP2L NDUFA13 KAT8 PQBP1 NDUFA4 STRA6 IFT81 TET3 SIK1 RPS19 RPL26 PHGDH OTUD6B DVL3 ECHS1 PSMD12 LBR PPP1CB PPP2R5D LONP1 TACO1 TGDS CWC27 BCOR PEX14 KANSL1 MAPK1 NDUFS3 PEX16 NIPBL SMAD4 LIPT1 RPS28 NOTCH3 PEX1 DSG1 LRP2 MYCN IGBP1 DYRK1A RAD21 EOGT PAH RTL1 ESS2 RARB NONO INSR MEIS2 DYNC2LI1 MMP14 NDUFA10 RPS26 TGDS PKD1L1 CSGALNACT1 GPC6 RPS17 APC2 CNTNAP2 CANT1 PIGL PEX10 PIGL TP63 TBX1 NSD1 RAI1 CACNA1C NR2F2 JMJD1C NKX2-5 CREBBP SHANK3 NDUFS7 TBX1 MTFMT NRXN1 ZEB2 TBL2 TBX1 ABL1 EVC STAMBP NDUFS8 DGCR2 KAT6B HCCS NDUFAF5 MPLKIP MEG3 RFC2 NSD2 LIMK1 RPL5 MPLKIP POLA1 PDHA1 B3GALT6 EP300 RIT1 MGAT2 STAG2 CRKL CACNA1D TASP1 CCDC22 YY1AP1 CDKL5 RPS10 TTC37 VAC14 C2CD3 MEOX1 NEUROD2 SEMA3E NUP107 TBX1 RNF113A BRAF HNRNPK PIGP FOXRED1 SMN1 COG6 DDX11 MKKS RSPO2 MED12 AFF4 TXNL4A ERCC2 RTL1 CCDC174 SOX2 NDUFA2 NR2F2 PIK3R2 NEK9 TFAP2B LONP1 GPC3 NDUFV2 ARCN1 DYNC2I1 FADD NOTCH1 NUP188 NDUFAF2 FIBP MTFMT GLI3 TBX5 SEC31A SIX6 RPL31 RPL10 RPS26 WDR26 PLAGL1 SOS1 CACNA1D TRIM8 CCDC22 RPL5 WNT4 RPS27 NODAL TCIRG1 DYRK1A RPS24 VPS33B RPL35A NDUFS1 UFD1 HYMAI SLC29A3 FBN1 GTF2I SCN2A GATA4 FBN2 KDM3B SF3B4 MED13L KANSL1 GTF2H5 FTO LRP2 DNAJC19 SETD5 TALDO1 PEX12 FGFR1 MAP2K1 THOC6 UBE2A RNU4ATAC HNRNPK WNT4 SCN1B GATA4 SALL1 RBM8A STXBP1 ACVR2B ALKBH8 SMC1A MAP2K1 NEK9 SETD2 LARS2 ERBB3 CTU2 OTUD6B ROR2 NDUFA9 HYLS1 PEX16 SMC3 GATA6 FBN1 THOC6 GATA1 PEX5 TSR2 TMEM94 JAG1 RERE TBCK SLC25A22 LETM1 TKT BMP2 HDAC8 CHD7 ZNF462 C2CD3 TNFRSF11A WHCR GPC4 CITED2 ATRX NSD1 EP300 GDF6 MLXIPL MEG3 VIPAS39 NDUFS4 RRAS2 BCR NKX2-1 DLK1 RPS29 GNAO1 WT1 GTF2E2 BAZ1B COMT KAT6A MID1 MEIS2 ARX COX7B ERCC3 WASHC5 TGFB3 TAB2 ROR2 CYTB KDM6A NONO PIGQ NAA10 UBE3B
Protein Mutations 1
T1405N
SNP 0