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) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT00337467 (13) NCT00098293 (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) NCT01614470 (10) NCT01423812 (10) NCT00358917 (10) NCT04415268 (10) NCT00511381 (10) NCT03911713 (9) NCT02742519 (9) NCT02725567 (9) NCT03045523 (9) NCT00438152 (9) NCT01102972 (9) NCT02971839 (9) NCT00740064 (9) NCT02605954 (9) NCT00379405 (9) NCT01562847 (9) NCT02616783 (9) NCT04272242 (9) NCT02445053 (9) NCT00242840 (9) NCT02724527 (9) NCT04209465 (9) NCT04585737 (8) NCT02082977 (8) NCT00112775 (8) NCT00383318 (8) NCT03659214 (8) NCT03631732 (8) NCT00118898 (8) NCT01888562 (8) NCT02633189 (8) NCT03565692 (8) NCT03843775 (8) NCT01161576 (8) NCT02167165 (8) NCT00344461 (8) NCT04519398 (7) NCT02154490 (7) NCT03232892 (7) NCT00650832 (7) NCT04549025 (7) NCT00440947 (7) NCT02784639 (7) NCT03572140 (6) NCT01237444 (6) NCT00532168 (6) NCT01102569 (6) NCT04424368 (6) NCT01414985 (6) NCT00525733 (6) NCT02308332 (6) NCT01487265 (6) NCT00049933 (5) NCT02389920 (5) NCT03351699 (5) NCT04197934 (5) NCT02272998 (5) NCT00122590 (5) NCT04204330 (5) NCT02450591 (5) NCT01173029 (5) NCT02675829 (5) NCT02858921 (5) NCT01914484 (5) NCT00187733 (5) 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) 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) NCT01282151 (3) NCT03058094 (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) NCT02282267 (2) NCT02684591 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT00525473 (2) NCT03333343 (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) NCT00834665 (2) NCT00969137 (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) NCT00005541 (2) NCT01242813 (2) NCT02906020 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT03720665 (2) NCT04309019 (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) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT00226551 (2) NCT03239145 (2) NCT04511533 (2) NCT02191891 (2) NCT04586270 (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) NCT03977194 (2) NCT03991013 (2) NCT02500927 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (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) 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) NCT01841463 (2) NCT04429542 (2) NCT03865511 (2) NCT01218477 (2) NCT03205267 (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) 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) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (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) NCT01998295 (2) NCT03586453 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (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) NCT00953706 (2) NCT02346955 (2) NCT03795688 (2) NCT02011945 (2) NCT00857675 (2) NCT00028262 (2) NCT02355431 (2) NCT02495233 (2) NCT04575415 (2) NCT03468985 (2) NCT00230087 (2) NCT02017600 (2) NCT04146298 (2) 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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) NCT01074398 (1) NCT04500717 (1) NCT03134131 (1) NCT01004497 (1) NCT02455167 (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) NCT00867139 (1) NCT03363139 (1) NCT01936051 (1) NCT02341131 (1) NCT00037076 (1) NCT00582907 (1) NCT02169869 (1) NCT03284684 (1) NCT04204473 (1) NCT01074359 (1) NCT01400191 (1) NCT04530565 (1) NCT03530319 (1) NCT04146402 (1) NCT02658682 (1) NCT04241835 (1) NCT03133234 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT01120964

Developed by Shray Alag, 2020.
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 749
CDC45 CHST3 RBM8A CDC42 RPS19 TBX3 TRIO NDUFA10 SLC25A22 PIGP TMEM94 NOTCH2 ARX NONO SHANK3 MAP2K2 LIMK1 FANCB PLD1 EXT2 LMNA BMP2 CSGALNACT1 PQBP1 STXBP1 GATA4 GP1BB GATA4 DNMT3A FANCI KIF11 MLXIPL ADK NOTCH2 SALL1 WDR37 KAT6A TARS1 NOTCH2 STRADA NSD2 SEC24C ZIC3 PAH DYNC2LI1 NELFA SYT1 NPHP3 CPLX1 BMP2 ATP6V0A2 GDF1 MMP14 XYLT2 PIGA CACNA1C PEX11B RIT1 PTEN GATA6 NSD2 SNRPB PIEZO2 TFAP2B SLC25A24 SLX4 NKX2-5 CDK10 TRIP13 PEX13 GPC3 RNU4ATAC FOXC2 ELN FBN1 KMT2D PPP2R5D SOX4 NR2F2 EPHB4 SLC29A3 GTF2E2 NF1 PTF1A RAD51 JMJD1C UFD1 LRP2 CANT1 FADD ERCC4 CREBBP COL11A2 ASXL1 NKX2-5 LMNA RPS17 HYLS1 SEC31A GTF2I DGCR8 GATA6 MYH6 MED25 NSD1 EFTUD2 HSPG2 FANCL RAD21 SETD5 EVC POR MGAT2 THOC6 RNU4ATAC GATA4 TBX1 THOC6 NEK1 ATP6V0A2 GATA1 CACNA1D BRAF NUP188 MAP2K1 OTUD6B STAG2 ROBO4 LRP2 BRAF LRP5 PUF60 NPHP3 SEMA3E VPS33A GDF3 TKT CACNA1D SPECC1L PEX2 TTC37 SETBP1 TSFM RPL15 FGFR1 LETM1 BRAF RPL35A GATA1 RPS15A KMT2A FANCE STRA6 ADAMTS10 PEX19 RAC1 RAD21 ECHS1 GPC4 COL11A1 ARHGAP31 RBM10 UQCRFS1 NDUFV1 PEX1 GLI3 FLNA RPL26 B3GLCT FANCI RERE PEX26 RPS27 FANCM SMAD4 KIF7 MYCN MED13L BCR UBR1 FGFR3 NKX2-6 NDUFA13 LIPT1 SRCAP SVBP CYTB SLC19A2 FTO NIPBL NCAPG2 DDX6 YY1 WDPCP RPL11 ZIC3 CCDC174 MAP2K1 GATA4 ANKRD11 FLNA SIX6 CREBBP JAG1 MYRF MYH7 TBX4 EVC2 HOXA13 NODAL LETM1 GNPTAB SALL4 MYBPC3 USP9X NIPBL FANCG GATA6 ATN1 SLC19A2 FIBP PALB2 RPS19 RARB CASK MYOCD PEX3 PIGO MYPN WNT4 TBCK GJA1 WAC G6PC3 PSMD12 EVC2 FLNA NKX2-5 FLI1 RAF1 TMCO1 ZDHHC9 TRAIP RPL27 NKAP NKX2-5 IFT81 CRB2 PEX1 MED12 RAB23 CHD7 RERE VAC14 RBM8A HDAC8 ATIC PUF60 AUTS2 TTC37 LONP1 SHOC2 NDUFS7 NEK1 RPL10 GATA5 GPC6 DGCR2 RAF1 CCBE1 MYL2 PALB2 XYLT2 SKIV2L SURF1 SON CNTNAP2 EVC ABCD4 PCGF2 PEX6 TGFBR1 ECE1 FGFR2 HAAO BUB1B PPP2CA FOXC1 SMC1A LZTR1 TBX22 B3GAT3 CTCF MTFMT MEGF8 NDUFS3 TRIP4 TXNL4A IRX5 TCTN3 RSPRY1 GPC3 ARX GJA1 PIGN TBX1 PCNT PAX3 PIK3R2 CITED2 NDUFA12 VIPAS39 NDUFA9 DYRK1A RPS29 BCOR FLCN UBE3B FANCB DPF2 HSPA9 PIGQ BRAF TSR2 RPL11 NKX2-1 NDUFA4 ZMPSTE24 MEIS2 BBS2 FIG4 PACS1 ALG12 UMPS ACADVL PPP1CB ACVR2B KMT2D RPL15 ERBB3 FBN2 COL1A2 CKAP2L DSE NOTCH3 ROR2 NDUFV2 NUP107 NOTCH1 RRAS2 GPC4 TRRAP PACS1 ZEB2 RPL10 CHST14 ARCN1 PEX14 MGP CHD7 CRKL COX15 PEX16 DHCR7 NDUFA2 RPS26 GATA4 GLI3 COX7B CHD4 DPH1 BUB3 PIGN GJA1 FKTN VPS33B CWC27 LARP7 TBX3 MRAS MASP1 KRAS FOXF1 MYCN DYRK1A KRAS B3GALT6 SH2B1 TASP1 CDH2 DGCR6 EXOC6B USP9X SIK3 HOXD13 B3GALT6 WT1 NDUFAF6 RPL5 CD96 TGFB3 KAT6B CITED2 RPL5 STAT1 ADA2 NR2F2 SMN1 NKX2-5 NRXN1 XYLT1 TKT ABL1 MED25 WASHC5 PEX10 CCND2 CTU2 BSCL2 DDX11 COG1 TP63 SETD2 CHST3 AMER1 RREB1 MMP2 CEP57 NDUFS1 PQBP1 RAD51C ARVCF STK4 DLL4 AKT3 PKDCC MTFMT CLIP2 TBX1 CDK13 RECQL4 PIGT MKS1 SETD5 GLI1 CRELD1 NDUFS2 ESS2 FGFR3 FANCF EHMT1 COX7B PIK3CA TGDS NDUFS8 AMMECR1 GJA1 BAZ1B ZMPSTE24 DPH1 METTL5 WHCR EOGT NR2F2 TBX5 FANCD2 HCCS MAP3K7 PIK3R2 STAG2 GATA6 AFF4 RFC2 KIF15 PTPN11 SPECC1L MEOX1 KAT6B XRCC2 IFT172 POLA1 SCN2A RPS7 NF1 MMP21 KIAA0586 AGGF1 TLL1 NSDHL SEMA3E PHGDH KAT6B HRAS TBX20 SPECC1L DMXL2 MIR17HG BRIP1 TALDO1 TMEM260 LBR SOX2 ERCC3 PTPN11 KDM6A TRIM8 NAA10 NKX2-5 FBN1 OTUD6B PDHA1 CCDC22 MAGEL2 SETD1A TAPT1 CDK8 TP63 MAP2K2 MKKS NFE2L2 MED12 PIK3R2 MAP2K1 BRF1 TBC1D24 MPLKIP AFF4 ARID2 ATP6V1A SPATA5 KAT6A SMG9 SNRPB CCDC22 TTC7A NONO NDUFAF5 EXT2 RPL35A NFIX DVL3 ZNF462 MYMK ECHS1 TBX5 NDUFS4 MCTP2 RSPO2 ATRX GABRD DNAJC19 EP300 GDF6 TGFBR2 SOX2 BRCA1 CEP290 EFTUD2 NDUFB11 KCNAB2 NOTCH1 PKD1L1 SNX14 UBR1 PIGN SDHA FANCC BCOR NEK9 KRAS DHCR7 FOXRED1 HRAS UBE2T CALM3 PEX16 MPL HCCS CKAP2L NDUFB11 RPL27 CARS1 FIG4 TTC7A LTBP4 C2CD3 WDR35 CHRM3 SKI PLAGL1 TNFRSF11A TXNL4A KCNA1 SOS1 WASHC5 SMARCE1 NUP107 INTU GATA6 RPS24 RERE SLC29A3 DYNC2LI1 RPL35 RPS17 FUT8 SLC19A3 COMT HYMAI TBX1 SMAD4 LTBP2 IGBP1 POLR1A HNRNPU GTF2IRD1 NEUROD2 GLA PACS2 GPX4 BRAF BMPR1A FADD ANK1 GDF1 NFIX MED13L COX7B ERCC2 PIGL COG6 DTNA ASXL2 ATP6V1E1 PIGL ADAT3 PUF60 SMC3 PEX12 CRELD1 RAI1 MYH7 FGFR2 FOXF1 DVL3 KDM1A SIK1 DSG1 ESCO2 TAB2 SALL1 CDKL5 LARS2 SMC3 VPS13B KDM6A TBX2 APC2 FANCA PIEZO1 MAD2L2 PQBP1 ROR2 TACO1 MPLKIP PET100 RFWD3 ASCC1 MEIS2 MGP RPL31 UPF3B FLNB PEX19 RPS26 WNT4 STRADA PORCN SOS2 PEX5 RPL18 TET3 SCN1B EP300 NEK9 CTBP1 NSD1 TGDS TALDO1 BRCA2 C2CD3 TBX1 TCIRG1 FGFRL1 SF3B4 UBE2A CCNQ BUB1 INSR KANSL1 CREBBP ALG8 MEOX1 ELN ALKBH8 NDUFAF2 ARID1B WDR26 GATA6 CFC1 STAMBP DNMT3A MAPK1 NKX2-1 RPS10 CTCF SYNE1 PNKP NAA10 KDM3B RNF113A YY1AP1 ALG9 KAT8 TBL2 B3GLCT MED12 HIRA LONP1 TBX1 GTF2H5 RMRP RPS28 DYNC2I1 GNB5 PRDM16 NXN CEP57 KDM5B ZEB2 DACT1 KDM6A GNAO1 ADAMTS10 GYG1 FIBP ACTC1 IGF1R FBXW11
Protein Mutations 1
T1405N
SNP 0
HP:0001631: Atrial septal defect
Genes 425
CDC45 RPS19 TMEM94 NONO LIMK1 PLD1 LMNA BMP2 CSGALNACT1 PQBP1 GATA4 GP1BB DNMT3A FANCI KIF11 MLXIPL ADK NOTCH2 SALL1 WDR37 KAT6A STRADA NSD2 SEC24C ZIC3 DYNC2LI1 NELFA SYT1 NPHP3 CPLX1 GDF1 MMP14 PIGA CACNA1C RIT1 PTEN NSD2 SNRPB SLC25A24 SLX4 NKX2-5 CDK10 TRIP13 RNU4ATAC ELN KMT2D PPP2R5D EPHB4 SLC29A3 NF1 PTF1A RAD51 JMJD1C UFD1 ERCC4 CREBBP ASXL1 LMNA RPS17 GTF2I MYH6 NSD1 EFTUD2 HSPG2 FANCL EVC POR THOC6 GATA4 NEK1 GATA1 CACNA1D BRAF MAP2K1 OTUD6B STAG2 ROBO4 BRAF NPHP3 SEMA3E VPS33A TKT SPECC1L SETBP1 TSFM RPL15 FGFR1 LETM1 BRAF RPL35A RPS15A KMT2A FANCE STRA6 RAC1 RAD21 GPC4 COL11A1 ARHGAP31 RBM10 RPL26 B3GLCT FANCI RPS27 FANCM MED13L BCR UBR1 FGFR3 SRCAP SLC19A2 NCAPG2 DDX6 YY1 RPL11 MAP2K1 CREBBP JAG1 MYRF TBX4 EVC2 NODAL LETM1 GNPTAB SALL4 USP9X NIPBL FANCG GATA6 SLC19A2 RPS19 MYOCD PIGO GJA1 G6PC3 EVC2 RAF1 TMCO1 ZDHHC9 TRAIP RPL27 NKAP MED12 RAB23 CHD7 RERE VAC14 RBM8A HDAC8 ATIC AUTS2 TTC37 LONP1 SHOC2 GATA5 GPC6 CCBE1 PALB2 XYLT2 SKIV2L SON EVC ABCD4 PCGF2 TGFBR1 ECE1 HAAO BUB1B FOXC1 SMC1A TBX22 B3GAT3 CTCF MEGF8 TRIP4 IRX5 RSPRY1 GPC3 GJA1 PCNT PAX3 RPS29 BCOR FLCN UBE3B FANCB HSPA9 TSR2 RPL11 NKX2-1 ZMPSTE24 MEIS2 BBS2 PACS1 ALG12 UMPS ACADVL PPP1CB FBN2 COL1A2 DSE ROR2 NOTCH1 TRRAP PACS1 ZEB2 RPL10 CHST14 CRKL DHCR7 RPS26 GATA4 GLI3 COX7B CHD4 DPH1 BUB3 PIGN FKTN VPS33B LARP7 MRAS MASP1 KRAS FOXF1 KRAS B3GALT6 SH2B1 TASP1 USP9X SIK3 WT1 RPL5 TGFB3 KAT6B CITED2 RPL5 STAT1 ADA2 SMN1 NKX2-5 TKT ABL1 MED25 WASHC5 CTU2 SETD2 CHST3 AMER1 RREB1 MMP2 CEP57 PQBP1 RAD51C ARVCF STK4 PKDCC CLIP2 TBX1 CDK13 PIGT SETD5 GLI1 FGFR3 FANCF AMMECR1 GJA1 BAZ1B ZMPSTE24 METTL5 WHCR EOGT NR2F2 TBX5 FANCD2 HCCS MAP3K7 AFF4 RFC2 KIF15 SPECC1L KAT6B XRCC2 POLA1 RPS7 NF1 MMP21 KIAA0586 AGGF1 TLL1 PHGDH KAT6B HRAS TBX20 SPECC1L BRIP1 TALDO1 TMEM260 PTPN11 KDM6A NAA10 NKX2-5 OTUD6B CCDC22 MAGEL2 SETD1A CDK8 MAP2K2 MKKS NFE2L2 MED12 PIK3R2 MAP2K1 TBC1D24 ARID2 ATP6V1A SPATA5 KAT6A CCDC22 NONO EXT2 NFIX DVL3 TBX5 EP300 TGFBR2 BRCA1 CEP290 EFTUD2 NDUFB11 SNX14 PIGN FANCC KRAS DHCR7 UBE2T RPL27 CARS1 FIG4 LTBP4 WDR35 CHRM3 TXNL4A WASHC5 SMARCE1 GATA6 RPS24 RPL35 RPS17 COMT TBX1 SMAD4 GTF2IRD1 GPX4 BRAF BMPR1A ANK1 GDF1 MED13L COX7B COG6 ASXL2 ATP6V1E1 ADAT3 SMC3 RAI1 MYH7 FGFR2 FOXF1 DVL3 KDM1A ESCO2 SMC3 TBX2 APC2 FANCA PIEZO1 MAD2L2 PQBP1 RFWD3 ASCC1 MEIS2 RPL31 UPF3B FLNB PEX19 STRADA RPL18 EP300 NEK9 CTBP1 NSD1 TGDS TALDO1 BRCA2 C2CD3 FGFRL1 UBE2A BUB1 INSR KANSL1 CREBBP ELN ARID1B GATA6 STAMBP DNMT3A MAPK1 NKX2-1 RPS10 CTCF KAT8 TBL2 MED12 HIRA RPS28 GNB5 NXN CEP57 KDM5B DACT1 KDM6A ACTC1 IGF1R FBXW11
Protein Mutations 0
SNP 0
HP:0001629: Ventricular septal defect
Genes 469
CDC45 CHST3 RPS19 TBX3 NDUFA10 SLC25A22 PIGP TMEM94 NOTCH2 ARX NONO SHANK3 LIMK1 EXT2 CSGALNACT1 STXBP1 GP1BB MLXIPL WDR37 KAT6A TARS1 SEC24C ZIC3 PAH DYNC2LI1 CPLX1 BMP2 GDF1 MMP14 XYLT2 CACNA1C PEX11B RIT1 NSD2 SNRPB PIEZO2 TFAP2B NKX2-5 PEX13 GPC3 FOXC2 ELN FBN1 KMT2D PPP2R5D SOX4 NR2F2 SLC29A3 GTF2E2 NF1 JMJD1C UFD1 LRP2 CANT1 FADD CREBBP COL11A2 ASXL1 HYLS1 SEC31A GTF2I DGCR8 NSD1 RAD21 SETD5 EVC MGAT2 THOC6 RNU4ATAC GATA4 TBX1 THOC6 NEK1 GATA1 CACNA1D NUP188 OTUD6B STAG2 LRP2 BRAF LRP5 PUF60 SEMA3E GDF3 TKT CACNA1D SPECC1L PEX2 TTC37 RPL15 FGFR1 RPL35A RPS15A KMT2A STRA6 ADAMTS10 PEX19 RAC1 RAD21 ECHS1 GPC4 ARHGAP31 UQCRFS1 NDUFV1 PEX1 GLI3 RPL26 B3GLCT FANCI PEX26 RPS27 MYCN BCR UBR1 NDUFA13 LIPT1 SVBP CYTB SLC19A2 FTO NIPBL RPL11 CCDC174 MAP2K1 ANKRD11 SIX6 CREBBP JAG1 MYRF EVC2 HOXA13 NODAL LETM1 SALL4 NIPBL GATA6 SLC19A2 FIBP PALB2 RPS19 RARB CASK MYOCD PEX3 WNT4 TBCK WAC PSMD12 NKX2-5 FLI1 TRAIP NKAP IFT81 CRB2 PEX1 MED12 RAB23 CHD7 RERE VAC14 RBM8A HDAC8 PUF60 TTC37 LONP1 SHOC2 NDUFS7 GATA5 GPC6 DGCR2 CCBE1 SKIV2L SURF1 CNTNAP2 PEX6 ECE1 FGFR2 SMC1A MTFMT NDUFS3 TCTN3 GPC3 ARX TBX1 PIK3R2 CITED2 NDUFA12 VIPAS39 NDUFA9 DYRK1A RPS29 BCOR UBE3B PIGQ TSR2 RPL11 NKX2-1 NDUFA4 MEIS2 FIG4 UMPS ACADVL PPP1CB ACVR2B RPL15 ERBB3 FBN2 CKAP2L NOTCH3 ROR2 NDUFV2 NUP107 RRAS2 GPC4 PACS1 ZEB2 RPL10 ARCN1 PEX14 MGP CRKL COX15 PEX16 DHCR7 NDUFA2 RPS26 GATA4 GLI3 COX7B CHD4 GJA1 VPS33B CWC27 TBX3 MASP1 KRAS MYCN DYRK1A B3GALT6 TASP1 DGCR6 WT1 NDUFAF6 RPL5 CD96 TGFB3 KAT6B RPL5 ADA2 SMN1 NKX2-5 NRXN1 XYLT1 TKT ABL1 MED25 WASHC5 PEX10 CCND2 CTU2 DDX11 TP63 SETD2 AMER1 RREB1 MMP2 NDUFS1 PQBP1 ARVCF DLL4 AKT3 MTFMT CLIP2 TBX1 CDK13 SETD5 GLI1 NDUFS2 ESS2 PIK3CA TGDS NDUFS8 GJA1 BAZ1B DPH1 WHCR EOGT NR2F2 TBX5 HCCS PIK3R2 GATA6 AFF4 RFC2 SPECC1L MEOX1 IFT172 POLA1 SCN2A RPS7 PHGDH KAT6B HRAS SPECC1L DMXL2 MIR17HG TMEM260 LBR SOX2 ERCC3 PTPN11 KDM6A TRIM8 NAA10 FBN1 OTUD6B PDHA1 CCDC22 TAPT1 CDK8 TP63 MKKS PIK3R2 MAP2K1 BRF1 TBC1D24 MPLKIP KAT6A SMG9 SNRPB CCDC22 TTC7A NONO NDUFAF5 RPL35A DVL3 ZNF462 ECHS1 TBX5 NDUFS4 RSPO2 ATRX DNAJC19 EP300 GDF6 SOX2 CEP290 EFTUD2 NDUFB11 NOTCH1 PKD1L1 SDHA NEK9 DHCR7 FOXRED1 HRAS CALM3 PEX16 CKAP2L RPL27 FIG4 TTC7A C2CD3 CHRM3 PLAGL1 TNFRSF11A TXNL4A KCNA1 SOS1 WASHC5 NUP107 GATA6 RPS24 RERE SLC29A3 RPL35 RPS17 SLC19A3 COMT HYMAI TBX1 SMAD4 LTBP2 IGBP1 GTF2IRD1 NEUROD2 FADD GDF1 NFIX MED13L ERCC2 PIGL COG6 DTNA PIGL SMC3 PEX12 RAI1 FOXF1 DVL3 SIK1 DSG1 ESCO2 TAB2 SALL1 CDKL5 LARS2 SMC3 VPS13B APC2 ROR2 TACO1 MPLKIP PET100 MEIS2 MGP RPL31 FLNB RPS26 WNT4 PORCN PEX5 RPL18 TET3 SCN1B EP300 NEK9 CTBP1 NSD1 TGDS TALDO1 C2CD3 TBX1 TCIRG1 FGFRL1 SF3B4 UBE2A INSR KANSL1 CREBBP MEOX1 ELN ALKBH8 NDUFAF2 ARID1B WDR26 STAMBP MAPK1 NKX2-1 RPS10 PNKP NAA10 KDM3B RNF113A YY1AP1 KAT8 TBL2 HIRA LONP1 GTF2H5 RPS28 DYNC2I1 NXN CEP57 ZEB2 GNAO1 ADAMTS10 FIBP IGF1R
Protein Mutations 1
T1405N
SNP 0