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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NCT03553563 (1) NCT01878006 (1) NCT03357627 (1) NCT03668431 (1) NCT03832257 (1) NCT02739243 (1) NCT01193881 (1) NCT02427620 (1) NCT03784599 (1) NCT02055976 (1) NCT02147990 (1) NCT01400074 (1) NCT01551030 (1) NCT00617708 (1) NCT00050180 (1) NCT00283387 (1) NCT03310541 (1) NCT00931944 (1) NCT02730884 (1) NCT02717455 (1) NCT04666259 (1) NCT00532792 (1) NCT04099836 (1) NCT02375022 (1) NCT03709706 (1) NCT02074696 (1) NCT00020787 (1) NCT01739231 (1) NCT04634695 (1) NCT04399551 (1) NCT02590952 (1) NCT02063971 (1) NCT04254419 (1) NCT04654689 (1) NCT01683175 (1) NCT03373370 (1) NCT00814073 (1) NCT02417740 (1) NCT03374215 (1) NCT02783300 (1) NCT03053219 (1) NCT01595425 (1) NCT04128878 (1) NCT01101438 (1) NCT02580708 (1) NCT00769067 (1) NCT03764553 (1) NCT03344809 (1) NCT04009148 (1) NCT02094222 (1) NCT02178722 (1) NCT03452150 (1) NCT04390243 (1) NCT00751777 (1) NCT04676477 (1) NCT02404441 (1) NCT00173069 (1) NCT02311478 (1) NCT01339052 (1) NCT04059874 (1) NCT01833143 (1) NCT00270556 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT02725333

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

Does Shoulder Stabilizations Stabilize Shoulders?

Background: There is no evidence that shoulder stabilization effectively corrects the glenohumeral translation in unstable shoulders, explaining residual apprehension in certain patients. The purpose of this study was to analyze the effect of surgical stabilization on glenohumeral translation. Methods: Anteroposterior and superoinferior translations were assessed in patients, before and after shoulder stabilization, through a dedicated patient-specific measurement technique based on optical motion capture and computed tomography.

NCT02725333 Shoulder Dislocation Shoulder Pain Joint Instability Syndrome
MeSH:Shoulder Pain Joint Dislocations Shoulder Dislocation Joint Instability
HPO:Joint dislocation Joint laxity Shoulder dislocation Shoulder pain

1 Interventions

Name: Shoulder Stabilization

Description: Open Latarjet was performed as the standard and well-described Latarjet-Patte procedure with subscapularis split and triple locking mechanism.14 The graft was intra-articular in every case, the capsule was systematically reattached to glenoid according to Favard's modification,15 and a capsular shift was added. Arthroscopic Latarjet was carried out in one case according to a modified Lafosse technique.16 In the latter treatment option, no reattachment of the capsule was realized. The arthroscopic Bankart repair consisted in a mobilization of the anteroinferior capsule and the labrum with an arthroscopic elevator. The glenoid rim and neck were then prepared with a mechanical shaver device. Two loaded anchors were inserted at the 5 and 3 o'clock position, and sutures were shuttled across the inferior glenohumeral ligament and labrum, starting at the inferior position and progressing in a superior direction.
Type: Procedure
Group Labels: 1

Shoulder Stabilization


Primary Outcomes

Description: Percentage of glenohumeral translation.

Measure: Comparison of ipsilateral glenohumeral translation (unstable side) pre- and postoperatively.

Time: 1 year

Description: Percentage of glenohumeral translation

Measure: Comparison of glenohumeral translation between ipsilateral side (unstable side) and contralateral (stable) side.

Time: 1 year

Secondary Outcomes

Measure: Prevalence of postoperative apprehension, new dislocation or subluxation in relation to the main outcomes of interest.

Time: 1 year

Description: Comparison of glenohumeral range of motion pre-postoperatively

Measure: Range of motion

Time: 1 year

Other Outcomes

Description: Baseline characteristics

Measure: Age, sex, shoulder side, and limb dominance

Time: 1 year

Purpose: Diagnostic

Allocation: N/A

Single Group Assignment


There is one SNP

SNPs


1 T40S

Kinematic data was recorded using a Vicon MX T-Series motion capture system (Vicon, Oxford Metrics, UK) consisting of twenty-four cameras (24 × T40S) sampling at 120 Hz. --- T40S ---



HPO Nodes


HPO:
HP:0001373: Joint dislocation
Genes 518
TGIF1 KMT2D SMARCB1 SLC6A5 NXN VDR GLRA1 LMNA HGD HSPG2 NODAL CUL7 COL1A1 ATP6V0A2 C12ORF57 GDF5 DHCR7 GTF2IRD1 KAT6B IARS2 OFD1 PAFAH1B1 ARID2 ASXL1 SHH ARID1B COL6A2 ATP6V1A NGLY1 PUF60 ARVCF HACE1 OSGEP PTPN22 FANCM PLOD1 NOTCH2 RREB1 AKT1 FZD2 AARS1 CTBP1 EXT1 USP9X SNRPB SOX4 SLC26A2 RAD51C PLOD1 FGF8 CYP27A1 GAS1 GDF5 COL6A1 GNPTAB FOXH1 CLIP2 CDC6 TARS1 SMARCA2 FKRP HIRA GP1BB GLI3 BRIP1 ADAMTS2 GPC6 ATP6V0A2 TPM2 DLL1 SEC24C SIX3 ERCC1 FIG4 LARGE1 ELN PTEN EXTL3 ARID1B B3GALT6 COL3A1 KIF7 CD96 FANCG CFL2 TGFBR1 MYH8 ORC4 SOX11 FOXH1 KLHL41 USP9X PTPN2 FLNB CDON ATP6V0A2 COL2A1 TPM2 COL6A1 NIPBL FLNB COLEC10 PTRH2 GAS1 EFEMP2 COL1A1 COL2A1 RYR1 GJA1 CREBBP SOX9 MYH8 SLC40A1 NEDD4L FLNB COL5A1 SLC10A7 ZC4H2 CDON SLC5A7 FANCD2 ATP6V1E1 SHH COL5A1 IFIH1 DISP1 GPC4 NLRP3 CHST14 FLNA FLNB ZIC2 FLNA NFIX THRA MAP3K20 COL27A1 OCRL PPP2R5D DISP1 SLC35A3 FANCL GMPPB XYLT1 CPLX1 FZD2 FOXH1 FLNA CD247 TDGF1 IFITM5 ALDH18A1 ARID1A EXT2 GORAB FLNB GLI2 FGF8 CDC6 ECEL1 IL2RA TBX15 DSTYK SLC26A2 GPHN FGFR1 ORC6 PUF60 FGFRL1 COL12A1 KMT2A FANCF STXBP1 WNT7A KMT2D COL12A1 FLI1 LMOD3 SIL1 DISP1 STAG2 LMX1B ERMARD COL6A3 CDC45 SIX3 DNAJC21 B3GAT3 ZMPSTE24 YWHAE TNNT3 LONP1 EXT1 STAT4 CHRM3 CHRNG ZIC2 FIG4 FLNA COL2A1 SMO MAP1B SMARCA4 FLNA ASXL1 DHCR7 FGF8 SHH FANCI DPF2 POMT2 KIF22 HACD1 CHRNG CREBBP CANT1 DYM MKKS FLNA MYH3 TBCD NODAL NOTCH2 SKI SELENON PORCN PTCH1 ZIC2 RAD21 ZNF469 CHST3 ORC1 KANSL1 DLL1 PIEZO2 SLC35A3 WNT7A KDM6A HOXA11 IL6ST GPC3 TCTN3 ATP7A FANCB SMOC1 DNASE1L3 FBXL3 SCARF2 FANCA KLHL7 CDON SLC6A9 SSR4 BGN GSC AEBP1 KDM6A RYR1 MAP3K7 COX8A PYCR2 PTCH1 GLI2 TBX15 PPP2R5D LONP1 AGRN APC TGDS FBLN5 SHOX KANSL1 CHRM3 COL1A2 ACTA1 NIPBL TPM2 SLC18A3 DSE DHODH CD96 FGFR1 MYH7 TGFBR2 BMP1 ARNT2 FLNB VAMP1 DONSON RBM8A EXOC6B COL1A2 CCDC47 EBP CSGALNACT1 GPC6 EIF2AK3 MACROH2A1 LMX1B PTRH2 FBN1 B3GALT6 POMT2 CANT1 IL2RB PIGL SLC2A10 JMJD1C RECQL4 CREBBP ATP6V1A PALB2 AEBP1 TBX1 SHROOM4 GEMIN4 COL6A2 TNFRSF11B TOR1A TBL2 TBX1 FANCE INPP5K FLNA MPLKIP RFC2 COLEC11 SLC40A1 RYR1 NSD2 KIF22 GCDH FANCC LIMK1 B3GALT6 CLCN7 SIX3 EP300 TRPS1 GLI2 NOG RNU4ATAC BRCA1 COL6A3 COL2A1 COL1A2 SIX1 VAC14 CCDC8 MCTP2 COL5A1 BRCA2 CDON TPM3 ARFGEF2 NOG B4GALT7 SMOC1 RNF113A SSR4 FBLN1 COL12A1 PUF60 PYCR1 ARF1 ATAD1 SMARCC2 ANKRD55 ZIC2 ITGA7 ERCC2 DVL1 CHRNA1 CHST3 IARS2 FOXH1 ACTA1 CUL7 GLRB EXOC6B EIF4A3 TMTC3 GNPTAB FGF8 COL5A2 LRP4 MAD2L2 RNU4ATAC ZC4H2 TGIF1 EBP COL2A1 FANCB SMC1A GLI3 FZD2 SLX4 CHAT TDGF1 CHST14 SMARCE1 SEC31A CDT1 ATP6V0A2 ATR SLC25A1 HACE1 PTCH1 B3GALT6 TBX4 PKDCC GLI2 TPM2 ACTA1 GAS1 GAS1 COLEC11 OBSL1 GLI3 UFD1 TGIF1 GDF5 UBE2T GTF2I FBN2 LMX1B SF3B4 MYO9A SMARCAL1 GLI3 KANSL1 GTF2H5 FHL1 PTCH1 EIF2AK3 COL13A1 GDF5 RECQL4 RYR1 GMNN SETD5 TDGF1 FUT8 HK1 UBE2A XYLT1 PITX1 BICD2 TGIF1 RBM8A NSDHL SMC1A BPNT2 EYA1 SELENON ERCC4 SMARCD1 SKI RAD51 OCRL TELO2 ANKH CHRND SHROOM4 SMC3 XRCC2 GPHN GLRA1 TDGF1 FLNA DLL1 MASP1 CHST11 WNT5A SHH TPM3 SIX3 LETM1 SOX9 COL1A1 MYL2 NEB HDAC8 RFWD3 MBTPS2 STAG2 SYT2 WHCR PHEX RECQL4 EP300 PRKAR1A ORC1 HSPG2 MAP3K7 ALDH18A1 DVL3 NODAL GTF2E2 SNAP25 ALG9 BAZ1B DLL1 COMT EXOSC3 POMT1 COL5A2 ERCC3 RNU4ATAC NODAL CLTCL1 SLC39A13 ROR2 KDM6A PYCR1 DISP1 SHOX UBE3B
Protein Mutations 1
T40S
SNP 0
HP:0001388: Joint laxity
Genes 248
UBR1 PROK2 B3GLCT NANS IARS1 CUL4B COL1A1 ATP6V0A2 SPRY4 FMR1 VAMP1 GTF2IRD1 CHD7 NONO TACR3 CCDC47 CSGALNACT1 ARID1B PUF60 APC2 STAG1 SLC2A10 PLOD1 B3GALT6 NOTCH2 SYT1 NSD1 RAI1 ALG14 ATP6V1E1 GATA1 PAX2 ALG2 C12ORF4 CREBBP COMP USP9X ATP6V1A ERMARD SERPINF1 AP4B1 COL6A2 TBL2 PLOD1 CDC45 HERC1 TAC3 STRADA CLIP2 DDRGK1 PPP1R15B RFC2 ELN AGA TMEM165 KIF22 PIK3R1 LIMK1 KISS1 RTL1 PMM2 TRMT10A B3GALT6 ADNP EP300 ELN COL6A3 SEC23A FBLN5 GNRH1 SRCAP PYROXD1 HERC1 HS6ST1 LTBP4 MAP3K7 RMRP USP9X MCTP2 SMAD3 SIN3A COL5A1 AP4M1 FGFR1 COL12A1 FKBP10 ATP6V0A2 TPM2 TPM3 DLG4 TRMT10A B4GALT7 COL6A1 HNRNPK TRIP4 SIN3A EFEMP2 SHOC2 COL1A1 ATP7A CREBBP TUBB3 IFT122 PDE4D COL6A2 MED12 COL5A1 ITGA7 FAT4 STAC3 RAB3GAP2 POGZ COL1A2 SLC5A7 ATP6V1E1 EXOC6B TGFBR1 CHST14 GFPT1 COL5A2 EFNB1 TENT5A MAP3K20 COL13A1 DUSP6 POGZ ALG2 AP4E1 GNRHR CHAT CHST14 P3H1 FLNB SLC25A1 AP4S1 COMP SOBP PLAGL1 PUF60 HYMAI PIK3CA XYLT1 DPAGT1 HNRNPH2 GTF2I COL12A1 FMR1 ACAN KISS1R FGFR3 SMAD3 DLK1 DCHS1 MYO9A TGFBR2 EED KANSL1 RYR1 COL13A1 NSMF PIGP TCTN3 LONP1 DCPS NKAP HNRNPK XYLT1 RAC1 WDR35 RET SERPINH1 SETD2 COL2A1 MSTO1 SKI KCNJ2 TELO2 COL6A3 RYR1 ADNP FARSB HACD1 CREBBP CANT1 ACAN SELENON PORCN PIGG ATP7A LRP5 THOC2 MYL2 ZNF469 SYT1 COMP YY1 IFT43 TBR1 KANSL1 SYT2 SATB2 NPR2 KDM6A FKBP10 TBL1XR1 NSD1 EP300 MLXIPL GLB1 ORC1 MRE11 DDX3X C1R ADAMTS2 FBXL3 PIGS MEG3 SLC6A9 GMPPB AHDC1 IARS1 FLNA OTX2 ANOS1 SNAP25 RYR1 MAN2B1 BAZ1B GATAD2B STRADA MED12 PROKR2 GRIA3 AGRN TGDS FBLN5 CBL COL5A2 FGF8 SLC39A13 FGF17 COL6A1 ACTA1 GALNS SLC18A3 NONO DSE WDR11
Protein Mutations 1
T40S
SNP 0