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 NCT00335244

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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
MeSH:Hypertension, Pulmonary Heart Defects, Congenital Congenital Abnormalities
HPO:Abnormal heart morphology Pulmonary arterial hypertension

2 Interventions

Name: L-citrulline

Description: 150mg bolus X 1 after initiation of cardiopulmonary bypass followed by continuous infusion of 9mg/kg/hr IV, starting 4 hours post bolus administration and ending at 48 hours continuous infusion or discharge from the PCCU
Type: Drug
Group Labels: 1

1

Name: Placebo of intravenous L-citrulline

Description: Placebo of intravenous L-citrulline
Type: Drug
Group Labels: 1

2


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

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:0001627: Abnormal heart morphology
Genes 2080
RPS19 ND4 GPR101 MMUT RSPH4A AEBP1 NDUFS6 TMEM94 LAMA4 FANCB POMT1 PDGFRA AGK GP1BB SH3PXD2B FANCC SEC24C MED13L PAH NELFA GDF1 MMP14 ELAC2 TMEM43 PEX11B FLT4 OFD1 ABCG8 NSD2 CYTB HGD FBXL4 ATP5F1D NKX2-5 JUP TRIP13 KCNH1 RNU4ATAC FOXH1 CDH23 SOX4 GTF2E2 NF1 LDB3 GDF1 RAD51 ERCC4 POLG SLC25A4 ASXL1 ABCC9 LBR SEC31A CRYAB ATP6 DGCR8 MLH3 FLNC GATA4 SIN3A SCN5A MYH6 NSD1 FHL1 GLB1 TSC2 GATA4 FANCL NDUFA1 CAVIN1 FLT4 NOTCH1 NAGLU GUSB DLD AIP EVC RNU4ATAC TPM3 XYLT2 NEK1 COQ2 BRAF FBLN5 HBA1 NUP188 DSG2 MAP2K1 ROBO4 HJV BRAF MYLK PUF60 HADHB SEMA3E LYST TKT FKRP TPM2 TTR TSFM TMEM67 LRRC56 SPOP CITED2 DNAJC21 LETM1 ACTN2 SOS1 FAM149B1 PEX19 PRKAG2 ACADM GATB GLI3 RPL26 SBDS COA6 RERE FANCM KIF7 MEFV MYCN TGFBR2 SLC2A10 UBR1 MYOT SVBP VPS13B FTO GLI2 DNAJB13 PRKAG2 INVS CCDC174 HIBCH GATA4 CAV1 PLN ANKRD11 IFNG SURF1 SIX6 JAG1 ARL13B TACO1 TRNK ZFP57 HOXA13 GBE1 LMNA GNPTAB SALL4 FANCG RAD51C ATN1 LACC1 ND5 RPS19 CASK PIGO MYPN KIF20A ARHGAP31 CDON RAF1 FGFR1 EVC2 NEDD4L SIX3 RPL27 NKAP LAMA2 TRNV PEX14 DNAAF4 RAB23 FAT4 NDUFA6 MYH7 VCP ZIC2 CALCRL HFE FGF8 SELENON RAF1 STAT2 SHH TPM1 XYLT2 SKIV2L COL18A1 SON TLL1 TPM1 ABCD4 FHL2 NODAL SKI TAZ HAAO BUB1B ERAP1 SMC1A ZNF148 LZTR1 MIB1 MTFMT SGCD GAS1 TRIP4 ARX PRTN3 FLNA PIGN TBX1 CHRND TRNF TDGF1 PAX3 NDUFB11 VIPAS39 DYRK1A BCOR FLCN UBE3B FGF23 CHRNG DPF2 ANKS6 PIGQ XK KRAS TSR2 HEXB IL12A SGCB IDH2 ALDH18A1 MYH6 ARL3 ERBB3 FBN2 ALX1 DSE ROR2 NDUFV2 EPB42 TRNL1 TAB2 ZEB2 RPL10 ODAD1 NECTIN1 COX1 ARCN1 COL1A2 LDLRAP1 SMAD3 PEX7 SLC22A5 BUB3 GJA1 GAS8 VPS33B LARP7 CCDC40 PLOD1 HAND2 PRRX1 COA3 SACS SCN5A WT1 CD96 TGFB3 STAT1 TGFB3 FBN1 NRXN1 ABL1 HAMP LMNA GBA MMP2 PQBP1 SGCG NDUFS7 IDUA TRNL1 LIMS2 ABCC6 CDK13 SETD5 FLNC ESS2 DRC1 COX7B DNAH5 TNNC1 FXN ZMPSTE24 PRG4 LAMC2 D2HGDH MMUT TRAF3IP2 EOGT KATNIP FANCD2 PYGL HCCS PIK3R2 SMARCB1 GMPPB TRNQ RRM2B DSP DNAAF4 RFC2 ALG1 HPS1 KIF15 ODAD4 SPECC1L MEOX1 TDGF1 PMM2 SGSH DCAF8 TANGO2 TLL1 TRNS1 SPTB MLYCD SEMA3E IL17F SLC35A2 DDX59 CCNO TMEM260 MYL2 SOX2 PEX19 NKX2-5 SETD1A TAPT1 NEXN BMPR2 CDK8 POMT1 MYH6 INS MED12 HLA-DRB1 MAP2K1 NDUFAF4 COL1A1 PPA2 AFF4 SMG9 MGME1 TTC7A FOXH1 BMP2 NDUFAF5 TNNI3 EOGT DYSF CBL ND1 NAXD NDUFS4 ARF1 KCNJ5 MTTP RRAS TMEM216 CEP290 NOTCH1 PKD1L1 ACTA2 NDUFB8 SDHA FANCC TRNW WFS1 KRAS COA8 DHCR7 PEX1 PEX12 PTCH1 VCL CALM3 CLCNKB ZNF423 BRCC3 ARSB CKAP2L COLQ RPL27 COX10 MGME1 TKFC ADAM17 CRYAB LMNA MID1 PLAGL1 GAS1 NDUFS1 SOS1 WASHC5 SMARCE1 INTU RERE DYNC2LI1 MKS1 TRNV HGD HYMAI KBTBD13 MKS1 SHH AEBP1 MEFV FAT4 DNAI2 DOLK FOXE3 NFIX NDUFAF8 HADHA PIGL TGFBR2 ATP6V1E1 MRPS14 XYLT1 PEX12 CRELD1 PTPN11 MYH7 FOXF1 POMT2 SDHAF1 TGIF1 CLCN7 LAMP2 LARS2 SMC3 APC2 ATAD3A PQBP1 COX15 JAG1 NKX2-5 PET100 ASCC1 MYH6 TDGF1 MEIS2 KCNJ11 PEX6 RPS26 TRNW STRADA SOS2 RPL18 TGIF1 ZNF687 EHMT1 TGFBR1 TRNK CEP120 TGDS TCIRG1 SPAG1 SF3B4 UBE2A CRYAB INSR MNS1 FGFR2 MEOX1 NDUFAF1 WDR26 SRY CFC1 DNMT3A PHYH GATA6 GATA6 BSCL2 CISD2 CFAP53 SMC1A RSPH1 TFR2 COL2A1 TPM3 COL3A1 ABCG5 RMRP DLL1 GNB5 DNAAF5 NXN CEP57 DNAH1 KDM6A PTPN22 TBX20 RAB3GAP2 LMOD1 TRNT POGZ FOXH1 TRNL1 PIGP PEX11B NOTCH2 NODAL MYBPC3 DNAH9 ANKRD11 PLD1 GSN PPARG NDUFA2 CSGALNACT1 STXBP1 HADHA DNMT3A KIF11 MLXIPL NKX2-5 ADK MYH7 DNAH5 EDNRA EYA4 RYR1 CPLX1 ATP6V0A2 XYLT2 MYL3 ODAD4 CACNA1C RIT1 TFAP2B TMEM43 CDK10 SUFU DISP1 PEX13 GAS1 GPC3 DSP FBN1 TCTN3 SLC29A3 GATA5 FBLN5 GJA5 IL17RA UFD1 CANT1 LMNA TNFSF11 NKX2-5 FHL1 LMNA LMNA CPLANE1 TSC1 DLL1 TXNRD2 EIF2AK3 YY1AP1 MMP2 CCDC65 GATA6 CACNA1S HSPG2 FAN1 NDUFA11 RAD21 MSH2 ZMYND10 SGCG CDON PTCH1 ALX3 TBX1 CCBE1 LRP2 PBX1 SOX9 RPGR NPHP3 TMTC3 SCO1 GATA6 SPECC1L TTC37 GLRX5 RLIM TGFB2 ACTB BRAF POMT1 PSMB8 TCTN1 FANCE FCGR2A ADAMTS10 EBP RAD21 ECHS1 GPC4 COL11A1 ARHGAP31 GATA4 NAGA ARL6 CDH2 CSNK2A1 AIP GLI2 CPT1A ALMS1 FANCI PEX26 BAG3 DISP1 PRDM16 DNAAF5 SIX3 NF1 TGFB2 TNNC1 FGF8 ACAD8 CHST14 BCR SRCAP TRNS2 DNASE1 NIPBL CEP41 OPA1 MRAS SGCB ARMC9 SDHA IFIH1 MEN1 RNF135 GATAD1 ND3 MYRF ND1 MYH7 NOD2 GNE ZEB2 ATP5F1E NODAL IFIH1 LETM1 USP9X FXN FIBP NXN PEX3 ATPAF2 WNT4 TBCK ZNF469 FMR1 EYA4 COX6B1 UBAC2 NKX2-5 COX1 CEP104 LMNA TMCO1 SDHA NME8 CRB2 PEX1 GMPPB PKP2 RERE ALMS1 HDAC8 TRAPPC11 PUF60 PTCH2 TRNK SMAD4 ACTC1 KRAS DGCR2 MIF ABCA1 CCBE1 MYL2 IRAK1 CPLANE1 STAG2 EVC ECE1 POLR3A FGFR2 PPP2CA B3GAT3 HYMAI PIBF1 TERT HMGCL NDUFA11 MYSM1 IRX5 HSD17B10 GJA1 RPS6KA3 CITED2 NDUFA12 ABCC8 TTN CSPP1 CPT2 TMEM216 CDON ZMPSTE24 BRAF RPL11 NKX2-1 FLAD1 NDUFA4 ZMPSTE24 TMEM126A TCAP PACS1 FHL1 ALG12 NNT PPP1CB KMT2D RPL15 NDUFB11 ATAD3A TGFB1 DSC2 CKAP2L MYH7 NOTCH3 NOTCH1 RRAS2 GPC4 ADCY5 MYOZ2 HLA-DPA1 CHD7 RPGRIP1 RSPH3 SELENON PEX16 PTPN22 RYR1 CLPB NDUFA2 GATA4 COX7B PSEN2 PIGN ND3 SMC1A TRNN FLNC SUFU MRPL3 FOXF1 KLRC4 TNNT2 DNAJC21 COG7 B3GALT6 PCCA SMAD6 TSC1 USP9X TRNK DMD NDUFAF6 CITED2 RPL5 ZFPM2 ADA2 NR2F2 GANAB GBA NKX2-5 TKT WASHC5 HLA-B CTU2 BSCL2 TCIRG1 DDX11 STAT4 SETD2 PNPLA2 CHST3 AMER1 FBN1 JAG1 NDUFS1 BMPR1A KIAA0753 ARVCF STK4 AKT3 PMS1 MTFMT RECQL4 MKS1 POGZ DSP NDUFS2 ATRX EHMT1 POLG RECQL4 NDUFS8 TTN FUCA1 SLC25A20 SDHD NDUFS2 COL3A1 ADAR WHCR MAP3K7 JPH2 CCDC103 AGK TRNQ LIAS SPEG COL2A1 NF1 OFD1 AGGF1 DOLK DCHS1 TNNI3K PHGDH HRAS MRPS22 FGFR1 DMXL2 DNAH11 TKFC TALDO1 IL17RC FLNA TCTN2 GATA4 KDM6A TRIM8 NAA10 FBN1 FDFT1 MAP2K2 MKKS LDB3 NFE2L2 DNAI1 PIK3R2 BRF1 SNRPB IL10 COX3 SMPD1 QRSL1 SLC4A1 ECHS1 PEX13 MCTP2 FGF8 COX8A DNAJC19 EP300 KCNE5 EFTUD2 NDUFB11 PLVAP DPM3 PDE6D SDHAF1 DNAAF1 SRP54 TDGF1 MAP3K7 ERCC6 SLC30A10 CC2D2A COX2 ARID1A WDR35 CHRM3 PRKAR1A DNAL1 PRDM16 RIT1 PEX3 MAP2K2 SLC29A3 SLC19A3 ACAD9 RNASEH2A TGIF1 FN1 SMAD4 LTBP2 BBS1 HNRNPU GTF2IRD1 NEUROD2 GATA5 ELN FADD GDF1 COX7B TAB2 PDX1 LTBP3 MYLK ADAT3 TBX20 SMC3 FKRP STAT4 FLNA FBN1 SMAD3 FGFR2 GBA GATA3 ESCO2 MYH11 NDUFS2 FBN2 KDM6A RPGRIP1L MAD2L2 TACO1 CLN3 MPLKIP RFWD3 FANCE TLR4 UPF3B PEX19 LRRC6 TRNC PORCN MED12 FANCA DNAI1 ODAD2 SCN1B NEK9 CTBP1 FBN1 CXCR4 TNFRSF1A BRCA2 TBX1 CENPE DMD C4A TREX1 KANSL1 MMP1 ALG8 ELN HADHA PCCB TSC2 A2ML1 SETBP1 LAMP2 STAMBP NKX2-1 SLC17A5 NEK8 CTCF PNKP DDX3X RRM2B RNF113A CLIC2 MAF ALG9 KAT8 ESPN NEBL TBL2 SLC7A7 MED12 LONP1 JUP DMPK PEX10 PEX5 DLD SYNE2 GTF2H5 ZFPM2 RPS28 DYNC2I1 PRDM16 IDS KDM5B GBA ITPA TRNS1 ACTC1 DISP1 TRNE CDC45 ELN SNX10 LAMA4 CFAP298 TRIO NDUFA10 SLC25A22 PEX5 ARX COL7A1 LDB3 SHANK3 TRAF7 GNPTAB MAP2K2 LIMK1 HLA-DRB1 EXT2 LMNA FBN1 SOS2 HBB FANCI TNNI3 ABCC6 CLEC7A SALL1 WDR37 TARS1 DNAAF2 NOTCH2 CAV3 NSD2 FOXRED1 ZIC3 DNAAF3 DAXX DYNC2LI1 NPHP3 EXT1 PIGA HJV MAP3K20 HLA-DPB1 SYNE2 FBN1 CFAP300 LZTR1 PIEZO2 SLC25A24 VHL POMK TNNT2 RYR2 PSEN1 DNAAF6 FOXC2 TCAP EMD NID1 POMT2 PTF1A LRP2 COL11A2 KRAS FCGR2A HYLS1 TNNI3 KIAA1109 MED25 CTLA4 PLN RYR1 AGL NDUFAF4 FOXH1 NAGA THOC6 PET100 GATA4 PTPN11 SLC25A4 FKRP ATP6V0A2 FHL1 CACNA1D EPG5 TCOF1 GAS1 PLN PRKAR1A STAG2 HIBCH BCOR TRNH NEB PTPN22 MRAP POMGNT1 HGSNAT IDUA PTPN14 COL5A2 NDUFV2 CDH23 RPL15 FGFR1 MIPEP NODAL BICC1 GATA1 EFEMP2 RPS15A KMT2A STRA6 RAC1 DISP1 CSRP3 ATP6AP2 TMEM70 RBM10 UQCRFS1 NDUFV1 PEX1 COL1A1 PYGM ACTA1 ACTA1 RPS27 SMAD4 CCDC103 COX14 TDGF1 MED13L KIF7 NDUFA13 CYTB ATAD3A FGF8 CCDC39 DDX6 BRAF NEU1 WDPCP COQ2 HBB ZIC3 MRPL44 FLNA NEB MYBPC3 NIPBL EGFR ACADS PALB2 RAF1 DES LMBR1 TPM3 PEX2 WAC STAG2 PSMD12 FLNA FLI1 CITED2 TP63 SON PIK3CA NKX2-5 IFT81 LMNA CHD7 HLA-B RNASEH2C SP110 RBM8A TIMMDC1 ATIC BCS1L BAG3 TTC37 LONP1 SHOC2 GJA8 GPC6 TOP3A STK36 OFD1 PALB2 SURF1 FMR1 APOB PEX6 TGFBR1 ZMYND10 TPM2 ZIC2 WARS2 TBX22 TNNI3 CTCF PRRX1 MEGF8 ZIC2 TAF2 GTPBP3 EFL1 TXNL4A TCTN3 GPC3 B9D2 KCNQ1 TTN NDUFAF3 PEX16 PCNT PDSS2 PIK3R2 PCSK9 TGFB3 FANCB DNAH1 TNXB HADHA MYH7 FKTN BBS2 UMPS ACADVL RPL26 ACVR2B DISP1 PTCH1 CDKN1C MYH8 COL1A2 GLI2 MYPN MCIDAS JUP TRRAP GATAD1 CHST14 IL23R BOLA3 MGP CHRM3 CFAP300 SLC25A4 DHCR7 CHD4 RBM10 DPH1 FKTN MFAP5 CWC27 SPEG TBX3 MRAS MASP1 KRAS MYCN MYH11 KRAS PHYH HFE SH2B1 CDC42 ANO5 TASP1 CDH2 CBS DGCR6 IFT122 RBM20 NDUFB3 HOXD13 B3GALT6 RPL5 KAT6B USP8 PRKAG2 SMN1 SMAD4 CHKB MED25 PEX10 CCND2 SELENON COG1 TP63 SPEF2 RREB1 COL2A1 JUP CEP57 ATP5MD RAD51C MLX DLL4 SH3PXD2B DES FUCA1 PKDCC CEP41 TBX1 PIGT RNASEH1 ALG1 AHCY ADCY5 ERMARD NRAS GJA1 PIK3CA VCL AMMECR1 DNAH9 COX20 DPH1 SLC25A4 NR2F2 TBX5 KLHL41 RAI1 RMND1 STAG2 GATA6 GALNS ACTC1 AFF4 PTPN11 KAT6B IFT172 POLA1 ND1 SCN2A RPS7 TNNI3 MMP21 MYBPC3 NDUFS3 SPP1 NSDHL NDUFAF2 WDPCP KAT6B TBX20 VCL SPECC1L CPT2 GLI3 BRIP1 GYS1 PTCH1 LBR ERCC3 PTPN11 NOTCH3 PPCS SCO2 FBN1 OTUD6B NKX2-6 ABHD5 FLNA TK2 FLNC FAH HES7 MAP3K7 ARID2 EPCAM ATP6V1A SPATA5 KAT6A MAT2A NFIX DVL3 ZNF462 TBX5 NEU1 ACADL RSPO2 NADSYN1 COL5A1 ATRX POLG2 GDF6 SOX2 ACAD9 SLC12A3 SLC25A3 CPT1A TGIF1 UBR1 PIGN GAA FKTN BCOR NEK9 CSPP1 ARFGEF2 IKZF1 DES UBE2T TSC2 CSRP3 HCCS RASA2 CARS1 LMNA CPT2 TMPO TTC7A LTBP4 BTK SKI RPS20 TTC12 KCNA1 TNNT2 RPS24 INPP5E FLNA NDUFS2 RPL35 SLC2A10 RPS17 COMT INPP5E CCDC40 POLR1A SBDS ARL2BP GLA MYH3 BRAF PIGV LAMB3 TPM2 ANK1 PIEZO2 MED13L KCNQ1OT1 CSRP3 NDUFS8 PTCH1 DTNA NKX2-5 GJA5 FOXH1 SLC40A1 CCDC28B TGFB1 HADH ALPK3 SALL1 CDKL5 SMARCA4 VPS13B HCN4 TCTN2 NDUFAF5 HAMP XRCC4 FANCA PMM2 ROR2 ABCC9 TWIST1 FLNA POLG STAT3 TRIM37 PEX26 MGP RPL31 FLNB ABCC9 OTX2 DLL1 DMD WNT4 HNRNPA2B1 SHH SMAD3 ABCA1 EP300 TREX1 CLIC2 ITGA7 AARS2 MSH6 TALDO1 C2CD3 GLI3 FGFR1 SRP54 CCNQ BUB1 TNNC1 ALKBH8 TXNRD2 ARID1B GATA6 ACSL4 NEK10 SGCA MAPK1 MICOS13 NEXN SYNE1 KCNJ11 DOCK6 YY1AP1 IGF2 MEFV H19-ICR B3GLCT DLL1 CCR1 HIRA SARDH GSN TBX1 GATC NHLRC2 DSP ACADVL COQ4 PPARG CTLA4 DACT1 GJA5 MKS1 ADAMTS10 GYG1 FIBP IGF1R CHST3 RBM8A ZIC2 CDC42 LRRC56 LMNA TBX3 TNNT2 DNAI2 NONO FAT4 RAF1 PPCS COL5A1 PRKAR1A MYO18B DLL4 ERCC8 COL7A1 TBX1 BMP2 FCGR2B SIX3 SALL4 PQBP1 GBA GATA4 COA5 GATA4 LAMA3 GMPPB MYH11 CDON NOTCH2 KAT6A STRADA TTR SCN1B SYT1 BMP2 TPM2 CITED2 PTEN GATA6 COX3 SNRPB MTO1 SLX4 LOX ACTA1 FGF8 PKD1 ODAD3 DNAAF2 ELN CFTR KMT2D PPP2R5D WARS2 NR2F2 EPHB4 KLF1 CCDC39 PKD2 TNNT2 TRNL1 RYR1 JMJD1C TRNT1 VPS33A ODAD1 FADD CREBBP HYLS1 SGCD ACTN2 COX2 SLC25A20 RPS17 KIAA0586 SIX3 SDHA GTF2I EFTUD2 VWF ALG9 KIF3B LMNA KYNU SETD5 ACAD8 ATP6 TWNK POR MGAT2 DNAAF6 LMNA LAMB2 GTPBP3 THOC6 GATA1 PEX2 OTUD6B COQ7 LRP5 ZNF469 VPS33A GDF3 CACNA1D PEX2 SETBP1 EPG5 DSP SIX3 GLA HYDIN RPL35A ND1 SHH SDHD DSE ND6 HLA-B TRMT10C FLNA B3GLCT KRAS SPAG1 RBCK1 TWNK IDUA DLL1 NDUFAF3 NDUFS4 SAA1 HBA2 TAF1A NBAS SMAD6 FGFR3 EXT2 ABCC6 NKX2-6 LIPT1 SLC19A2 PPP1CB MYOT TRNS1 NCAPG2 YY1 RPL11 TMEM107 MAP2K1 SLC25A3 AHI1 FGFR1 PLAGL1 STAR CREBBP TBX4 SCN5A MYH11 EVC2 LDB3 NODAL HBB PRDM5 GATA6 WFS1 ND4 TMEM126B SLC19A2 NEXN RARB NDUFAF1 MYOCD NAA10 TSC1 PCCB DCHS1 GJA1 MAF G6PC3 RAF1 EXTL3 LMNA ND6 PCCA ZDHHC9 TRAIP TPI1 RRAS2 MYH7 MED12 NPPA NKX2-5 VAC14 BIN1 NDUFA10 AUTS2 FANCD2 SPTA1 NDUFS7 FOXJ1 ACTC1 NEK1 TWNK RPL10 GATA5 LMNA LMNA CNTNAP2 TMEM67 PCGF2 MYH7 LZTFL1 PSEN2 SGCD PTCH1 SYNE1 FOXC1 CHRNA1 GAS1 NDUFS3 RSPRY1 KCNJ8 FRAS1 RNASEH2B FKTN ANK1 NEU1 ACTN2 NDUFA9 RPS29 ND2 TGIF1 BAG3 HSPA9 MEIS2 FIG4 DNAH11 TAF2 POMT1 DMD NUBPL POLG SAMHD1 RBM20 ACTC1 SDHA IRF6 NUP107 PACS1 GLI2 AHI1 PKD1 SHOC2 MYH6 PEX14 DSG2 CRKL C1QBP COX15 RPS26 GLI3 LOX RBPJ DNAL1 MLH1 MC2R AGPAT2 FOS DYRK1A IL12A-AS1 PEX7 PAM16 EXOC6B ABCC9 SIK3 TBX1 CHRNG ACTG2 SCARB2 AMMECR1 DPM3 PARS2 TNNI3 XYLT1 NDUFV1 SCO2 CFAP221 MSX1 MFAP5 CLIP2 PIGT PIGS GLI1 CRELD1 FGFR3 FANCF RAF1 TGDS POMT2 CEP120 GJA1 BAZ1B HNRNPA1 METTL5 DNAAF3 GAS2L2 TPM3 IL6 SIX3 FKRP TMEM231 LDLR XRCC2 DNASE1L3 TTN TMEM70 FASTKD2 KIAA0586 PSEN1 MYH6 TRNF MYPN ANKRD1 LRRC6 MIR17HG B9D1 CDON COL3A1 TTPA PDHA1 CCDC22 MAGEL2 TBC1D24 INSR MAP1B NRAS TP63 MYH7 PKD2 DES TNXB NDUFS8 MYPN ZIC2 PRKG1 HACD1 TBC1D24 FOXRED1 MPLKIP AHCY TLL1 CEP290 SUFU CCDC22 GPX4 NONO EXT2 HADHB RPL35A MYMK NDUFB10 NDUFS4 COQ9 NAGA ACTA1 GABRD TAZ TGFBR2 BRCA1 KCNAB2 AIP SNX14 SGO1 GCK NOTCH1 ND5 PTCH1 FOXRED1 HRAS TRNS2 MYPN ADNP PEX16 MPL MEFV HADH ODAD3 NDUFB11 SHH FIG4 DMD C2CD3 TWNK GLI2 TNFRSF11A TXNL4A NUP107 GATA6 FUT8 NDUFV2 TBX1 IGBP1 ENPP1 PPA2 SOX6 PACS2 GPX4 FAS BMPR1A CCNQ SKI ERCC2 COG6 ASXL2 ADAMTS3 PIGL COG7 PUF60 CAP2 AGPAT2 DSP NOD2 ODAD2 TTN RAI1 CBL DVL3 KDM1A SIK1 DSG1 TAB2 SEMA4A SNIP1 TBX2 VPS13A PIEZO1 MYH7 TMEM126B INTS1 DSG2 TRNW PEX5 TET3 MYPN NSD1 LTBP4 YARS2 PNPLA2 FOXP1 ND6 DNAAF1 PEX7 TMEM237 FGFRL1 AMMECR1 TPM1 ND2 POLG IL12B CREBBP NDUFAF2 NDE1 ND5 TTC8 RPS10 SMO NAA10 KDM3B NODAL INTU SFTPB KAT6B RSPH9 NDUFB9 CFAP298 CEP55 CPT2 NSMCE2 GPR101 PMS2 HSD11B2 COA8 DNAJC19 MYLK2 B9D1 PGM1 TTN WDPCP RNU4ATAC ZEB2 CRYAB GNS GNAO1 TAZ ABCC8 FBXW11 TPK1 SDHB
Protein Mutations 1
T1405N
SNP 0