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 NCT02725333

Developed by Shray Alag, 2020.
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 513
CHST3 RBM8A ZIC2 TBX4 SMARCA4 AEBP1 NOTCH2 COL5A1 NODAL OBSL1 COL5A1 GNPTAB LIMK1 YWHAE SMARCB1 CSGALNACT1 SIX3 GP1BB PTPN22 COL2A1 FANCI TARS1 EXTL3 NOTCH2 SEC24C RYR1 CPLX1 ATP6V0A2 EXT1 MAP3K20 DPF2 TPM2 THRA EXOSC3 COL1A2 NSD2 SNRPB HGD SLX4 ACTA1 DISP1 GAS1 RNU4ATAC FOXH1 ELN KMT2D PPP2R5D COL1A2 OCRL ORC1 POMT2 RYR1 GTF2E2 EIF2AK3 LARGE1 RAD51 RYR1 JMJD1C UFD1 CANT1 ERCC4 CREBBP LMX1B ASXL1 COLEC10 DVL3 DLL1 SIX3 ORC1 EIF2AK3 SEC31A GMPPB GTF2I AKT1 RNU4ATAC ARID1A KIF7 EIF4A3 FANCL CFL2 ORC6 EXOC6B SOX4 FOXH1 KLHL41 PTPN2 SHROOM4 VDR C12ORF57 CDON TPM3 ATP6V0A2 FLNB MASP1 GDF5 GAS1 FBLN5 COL5A2 ATP6V0A2 FLNA PUF60 SMARCA2 SOX9 SLC40A1 TMTC3 FLNB COL5A2 COL2A1 HOXA11 COL12A1 APC NODAL EFEMP2 VAMP1 KMT2A FANCE CHST11 ATP6V1A SHH DISP1 RAD21 GPC4 DSE RNU4ATAC ERCC1 COL12A1 GLI3 GLI2 FLNA COL1A1 ARID2 ATP6V1E1 TBX15 DYM ACTA1 DISP1 FANCM SMARCAL1 FGF8 BMP1 CD247 TDGF1 SMARCE1 CHST14 SLC2A10 OSGEP EXT2 ATAD1 PYCR1 GLI2 FGF8 NIPBL TBX15 IL2RA COL2A1 CLCN7 FLNB FGFR1 FLNA CREBBP CDT1 IFIH1 LETM1 GNPTAB USP9X MBTPS2 NIPBL FANCG LMOD3 ZNF469 GJA1 INPP5K CDON STAG2 OCRL STXBP1 NEDD4L FLI1 SIX3 LMNA NGLY1 SLC35A3 STAT4 TOR1A SIL1 DSTYK SLC26A2 ZIC2 VAC14 RBM8A HDAC8 ALDH18A1 POMT1 TGFBR2 PUF60 LONP1 ARID1B GPC6 B3GALT6 FGF8 SELENON WNT7A SHH PALB2 SMARCD1 SLC6A9 STAG2 ZC4H2 NODAL SKI TPM2 PTCH1 ZIC2 LMX1B SMC1A CHRNA1 B3GAT3 GMNN GAS1 PIEZO2 GPC3 FLNB CHRND SMOC1 COL1A1 SCARF2 UBE3B FANCB CDON ZMPSTE24 FBXL3 FIG4 FHL1 KMT2D SLC40A1 DNAJC21 PTCH1 PYCR2 FBN2 FZD2 BICD2 COL1A2 GLI2 MYH7 B4GALT7 CCDC47 ROR2 SLC25A1 LRP4 FANCB CHST14 KIF22 BPNT2 CHRM3 GORAB DHODH SELENON RYR1 DHCR7 TPM2 COL13A1 GLI3 MACROH2A1 SMC1A TGFBR1 CHAT CUL7 B3GALT6 RECQL4 HFE FLNB CYP27A1 SLC18A3 EXOC6B USP9X COL6A1 COL12A1 MKKS SHOX B3GALT6 CHRNG CD96 SLC39A13 PITX1 GLI3 FBN1 WNT7A FKRP XYLT1 IL2RB CHST3 RREB1 NOG SLC10A7 ATP6V0A2 RAD51C CD96 ARVCF FBLN1 GPHN PKDCC ANKH COL2A1 SLC26A2 CLIP2 TBX1 SETD5 GEMIN4 FANCF ERMARD KLHL7 TGDS PTEN IARS2 PTRH2 GPC6 BAZ1B ALDH18A1 WHCR GCDH FANCD2 MAP3K7 RFC2 SIX3 EXT1 TDGF1 ATR XRCC2 DNASE1L3 SOX9 COLEC11 SIX1 FZD2 PTRH2 PHEX NSDHL MYH3 IL6ST PAFAH1B1 KAT6B GLI3 HK1 BRIP1 CDON MYL2 FLNA ERCC3 KDM6A MAP1B PORCN FLNA SMOC1 GLRA1 ANKRD55 ZIC2 HACD1 MPLKIP COL2A1 ATP6V1A CDC6 FZD2 FOXH1 COL6A2 ORC4 OFD1 GPHN TRPS1 MCTP2 ARF1 FGF8 SHROOM4 COL5A1 EP300 GLRA1 BRCA1 CLTCL1 TGIF1 FANCC DHCR7 ADAMTS2 PTCH1 AARS1 ARFGEF2 UBE2T HACE1 AGRN TDGF1 SOX11 IARS2 MAP3K7 EBP CDC6 SNAP25 SHH FIG4 ASXL1 GLI2 CHRM3 TPM2 ACTA1 KIF22 GAS1 BGN GSC CCDC8 FUT8 ECEL1 SSR4 COMT DONSON NLRP3 TBX1 TGIF1 NOG GTF2IRD1 AEBP1 COL6A3 TNNT3 SLC5A7 NFIX SKI ERCC2 PTCH1 PIGL COL6A3 PUF60 CDC45 SMC3 FOXH1 SHOX HSPG2 FLNA COL27A1 TGIF1 COL1A1 KDM6A EBP EYA1 COL6A1 GDF5 PPP2R5D FANCA TCTN3 SMARCC2 MYH8 MAD2L2 COL6A2 FLNA RFWD3 SLC6A5 GLRB TDGF1 TNFRSF11B FLNB DLL1 COLEC11 SLC35A3 DVL1 SHH TGIF1 EP300 CTBP1 ITGA7 NEB TBCD HSPG2 ATP7A BRCA2 FGFR1 MYO9A FGFRL1 CHRNG MYH8 SF3B4 UBE2A CUL7 KANSL1 CREBBP PRKAR1A ARID1B HACE1 FLNA GDF5 WNT5A LMX1B SMO NODAL RNF113A SYT2 ALG9 TBL2 DLL1 ARNT2 HIRA LONP1 RECQL4 POMT2 ZC4H2 XYLT1 TPM3 COL3A1 GTF2H5 PLOD1 DLL1 GDF5 TELO2 SSR4 NXN IFITM5 KDM6A PYCR1 DISP1 CANT1
Protein Mutations 1
T40S
SNP 0
HP:0001388: Joint laxity
Genes 240
CDC45 RAB3GAP2 CHAT POGZ PROKR2 COL5A1 NONO LRP5 HERC1 B3GALT6 COL5A1 ANOS1 SLC18A3 LIMK1 PLOD1 IFT122 USP9X FGFR1 COL12A1 WDR11 SLC39A13 XYLT1 DLG4 CSGALNACT1 SYT1 ADAMTS2 MLXIPL EED ADNP C12ORF4 NOTCH2 STRADA SETD2 GFPT1 SYT1 ATP6V0A2 ACAN TBR1 ATP6V0A2 MAP3K20 AP4E1 COL6A1 COL2A1 CLIP2 POGZ PIGS TACR3 PIK3CA TGDS PIK3R1 COMP ELN MAN2B1 TRMT10A BAZ1B FGF17 IARS1 CREBBP GALNS HNRNPH2 AGA RFC2 AHDC1 FKBP10 TRMT10A ORC1 PMM2 GTF2I TUBB3 SIN3A FGF8 NSD1 KISS1 EXOC6B SOBP HERC1 MSTO1 TENT5A GNRHR GATAD2B TPM3 MYL2 COMP FBLN5 COL5A2 COL13A1 PROK2 PUF60 PORCN COL6A3 RET COL5A2 ACAN HACD1 FKBP10 TRIP4 NONO ERMARD GATA1 EFEMP2 VAMP1 CUL4B COL6A2 GMPPB ATP6V1A RAC1 TBL1XR1 DSE MCTP2 SERPINH1 PIGG COL1A1 DCPS DPAGT1 B3GLCT SEC23A ATP6V1E1 EP300 TGFBR2 P3H1 ALG2 ACTA1 SPRY4 AP4M1 KISS1R CHST14 UBR1 ADNP IARS1 SRCAP AGRN YY1 SNAP25 AP4B1 DDX3X THOC2 LTBP4 WDR35 CREBBP PLAGL1 NANS AP4S1 USP9X SLC2A10 HYMAI ALG2 GTF2IRD1 ZNF469 NSMF FGFR3 FMR1 SLC5A7 SKI ATP6V1E1 GNRH1 COL6A3 STAG1 NKAP FLNA RAI1 PAX2 CBL SMAD3 PYROXD1 MED12 TMEM165 IFT43 PDE4D COL6A1 PUF60 APC2 GRIA3 LONP1 SHOC2 SERPINF1 B3GALT6 ATP7A RYR1 COL12A1 SLC6A9 FLNB FMR1 STRADA TGFBR1 TPM2 EP300 DDRGK1 NSD1 ITGA7 PIGP C1R COMP MYO9A SIN3A STAC3 RYR1 KCNJ2 TCTN3 DCHS1 CREBBP ELN FAT4 ARID1B COL1A1 ALG14 NPR2 FBXL3 SYT2 TBL2 EFNB1 MED12 MAP3K7 RMRP CHD7 MRE11 ATP7A B4GALT7 CCDC47 SLC25A1 FARSB XYLT1 TAC3 GLB1 CHST14 PLOD1 KIF22 FBLN5 COL1A2 TELO2 SMAD3 DUSP6 COL6A2 SELENON OTX2 RYR1 COL13A1 KDM6A HS6ST1 PPP1R15B CANT1
Protein Mutations 1
T40S
SNP 0