SNPMiner Trials by Shray Alag


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Report for Mutation T40S

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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 Procedure: Shoulder Stabilization
MeSH:Shoulder Pain Joint Dislocations Shoulder Dislocation Joint Instability
HPO:Joint dislocation Joint laxity Shoulder dislocation Shoulder pain

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 ---

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


HPO Nodes


HP:0001373: Joint dislocation
Genes 443
COL2A1 PAFAH1B1 WHCR SLC40A1 SCARF2 ATP7A PYCR2 GPC4 COL1A1 COL5A1 SOX11 OFD1 TCTN3 IL2RA IARS2 TRPS1 COL5A1 FLNB SKI MAP3K7 PITX1 RYR1 CTBP1 EXT1 ZNF469 SETD5 MYH8 OCRL DSE GDF5 ORC1 MYH7 GCDH ASXL1 SLC6A9 SLC2A10 FLNA EXOC6B RECQL4 CLTCL1 CHST14 DNASE1L3 GDF5 HDAC8 RNU4ATAC TBX1 ATP6V0A2 NFIX KMT2A SMARCA4 INPP5K SETD2 SLC6A5 AKT1 COL1A2 SLC5A7 HFE GSC ALG9 FLNA NEDD4L RAP1B EYA1 EIF2AK3 RYR1 UFD1 CUL7 ARID2 FLNB FGFRL1 SNRPB AEBP1 HGD FLNA XRCC2 GPC6 GORAB CHRNA1 TPM3 FGFR3 LMNA LONP1 ACTA1 JMJD1C FLNA EBP PALB2 UBE2A LMX1B KIF22 AEBP1 PYCR1 WNT7A COLEC11 WNT5A KDM6A FANCE FUT8 NSD1 SLC26A2 SOX4 PTEN COL12A1 RAD51 FZD2 PIEZO2 KANSL1 SSR4 MAP3K7 FBN1 PIGL AARS1 DONSON POMT1 SEC24C PORCN GLI3 GLRA1 SMC1A TGFBR2 ARID1A HACD1 RYR1 ANKH PHEX FANCD2 SMOC1 COL2A1 SSR4 SMARCB1 COL1A1 OCRL USP9X COL6A1 MAP1B FZD2 ZC4H2 STXBP1 HACE1 FLNA GNPTAB COL5A2 THRA CHST3 SHOX SKI BMP1 CFL2 COMT COL6A3 KIF22 ERCC4 B3GALT6 ADAMTS2 CDC6 TMTC3 PTPN2 RNF113A LMOD3 CCDC8 BRCA1 FIG4 RFWD3 RYR1 COMP NOG EXT1 ASXL1 DVL3 IFITM5 BPNT2 COL6A1 EXOSC3 AGRN CANT1 CHRM3 FANCB SNAP25 TELO2 ELN SLC25A1 PPP2R5D CYP27A1 EXT2 PRKAR1A DNAJC21 RREB1 MACROH2A1 ECEL1 GPC6 SMARCA2 SMARCE1 COL6A3 LMX1B COL1A2 ANKRD55 FANCC YWHAE MAD2L2 ERCC2 XYLT1 NSDHL SMARCC2 DMPK SLC18A3 SOX9 FLNB GP1BB COL12A1 GLI3 NOG PTPN22 VDR RFC2 ERCC3 PUF60 SHROOM4 GDF5 MYL2 DVL1 MKKS MASP1 CDC6 POMT2 EP300 GMPPB IFIH1 NLRC4 SF3B4 CHAT LONP1 TPM2 TBX15 COL2A1 B3GAT3 FBN2 KDM6A ACTA1 ACTA1 FLI1 ATP6V0A2 HACE1 SMC3 VAMP1 SHOX SLC35A3 COL1A2 GLRA1 GLRB DHODH ARID1B GLI3 CD96 KDM6A SELENON SHROOM4 SMOC1 LIMK1 NLRP3 CHRM3 TBL2 COLEC11 UBE2T ZMPSTE24 CHRND ARFGEF2 ERCC1 TBX4 CHRNG GDF5 COL2A1 MAP3K20 SIL1 LARGE1 FLNB ARF1 FANCL GPHN TGFBR1 APC HIRA POMT2 WNT7A NSD2 SELENON MYH3 CHRNG SOX9 RAD21 FZD2 DPF2 ARNT2 KMT2D RAP1A CLIP2 BRIP1 ALDH18A1 ALDH18A1 NIPBL FANCF KIF7 TNNT3 SIX1 DHCR7 NOTCH2 HSPG2 HSPG2 TGDS OBSL1 PTRH2 MBTPS2 GTF2E2 EIF2AK3 TPM2 ATAD1 TPM2 DHCR7 COL27A1 NOTCH2 CD247 SLC35A3 UBE3B LMX1B FLNA ITGA7 CLCN7 NGLY1 FANCA FLNA MYO9A KLHL41 ORC6 COL5A2 CDC45 ROR2 ERMARD GTF2H5 BICD2 FANCM TARS1 COL3A1 CHST14 TPM3 RBM8A COL2A1 SLC10A7 EXOC6B COL1A1 RBM8A ATP6V1A FLNB MCTP2 MPLKIP CANT1 EIF4A3 USP9X NXN IL2RB GMNN GEMIN4 ATR EXTL3 CHST3 LETM1 BRCA2 ORC4 PUF60 COL12A1 RAD51C GJA1 ARVCF GTF2I ATP6V0A2 RNU4ATAC BGN ARID1B APC2 SMARCAL1 COL5A1 TBX15 IARS2 SLX4 COL2A1 ATP6V1A KMT2D NEB TPM2 B4GALT7 COLEC10 PPP2R5D SLC26A2 TBX1 PUF60 CHST11 FLNB B3GALT6 COL13A1 FANCG FANCI PYCR1 KLHL7 RECQL4 CCDC47 FBXL3 B3GALT6 FIG4 EBP BAZ1B FHL1 LRP4 FANCB FKRP STAT4 CPLX1 CUL7 GPC3 XYLT1 KAT6B COL6A2 DYM OSGEP ORC1 ATP6V0A2 DSTYK GPHN C12ORF57 VAC14 PLOD1 COL6A2 MYH8 SYT2 FLNA TBCD HOXA11 NIPBL CD96 CDT1 GTF2IRD1 CREBBP FBLN1 SLC40A1 ATP6V1E1 GLI3
Protein Mutations 1
T40S
SNP 0