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
SHOX KMT2D HACE1 CCDC47 CTBP1 GLI3 GLI3 LIMK1 GLRA1 MPLKIP B4GALT7 GPHN PAFAH1B1 FBN2 FANCL ARID1B PTEN SOX9 MAP3K7 GPC3 SLC6A9 ELN FLNB COL1A2 BRIP1 COL2A1 ATR PORCN CHRNG FGFRL1 FUT8 BPNT2 ALDH18A1 GSC ORC6 GDF5 NFIX BGN NSDHL NEB SOX11 KANSL1 EXT1 AEBP1 TBX15 SLC5A7 TELO2 ROR2 KIF7 MYH8 B3GALT6 RNF113A CHST14 CHRND COL13A1 COL6A1 ZC4H2 SLX4 FLI1 IL2RA GPC4 FKRP FANCB KMT2D COL6A3 SKI RAD21 MCTP2 SLC40A1 DHODH ARVCF FANCA DSTYK COL2A1 KLHL7 DSE EXT1 MYH8 RYR1 GEMIN4 SELENON MKKS XRCC2 TNNT3 GMPPB FBXL3 HFE GNPTAB COL5A2 SOX9 SSR4 WNT7A NOG OCRL COL27A1 BMP1 UBE2T LMX1B SMC1A GTF2IRD1 ADAMTS2 UFD1 LETM1 FANCB GDF5 PYCR1 HGD HACE1 MYO9A FANCM RFC2 ERCC4 INPP5K SLC6A5 FLNB SIL1 AGRN CHRNG ACTA1 GJA1 SNAP25 GPHN PPP2R5D BICD2 GCDH C12ORF57 ARNT2 EP300 NSD2 DVL1 LMNA CUL7 CLIP2 COMT GMNN CLCN7 FBLN1 GORAB JMJD1C TPM2 ERCC3 ATP6V0A2 FLNA PPP2R5D HIRA SIX1 BRCA2 AKT1 STXBP1 DVL3 CPLX1 CREBBP COL1A2 COL6A1 DNAJC21 SLC25A1 KIF22 BRCA1 CHRM3 PYCR1 TPM3 IL2RB RYR1 ZNF469 TNFRSF11B SOX4 COMP TARS1 B3GAT3 FZD2 MAD2L2 ACTA1 RYR1 COL5A1 KDM6A FLNA GLRB ARID1A TCTN3 MYH3 SMARCE1 TGFBR2 SLC18A3 CDC45 NSD1 CDC6 TBX1 PHEX CFL2 KMT2A ERMARD TRPS1 COL5A2 NOG USP9X CHRM3 ARID2 ANKH SEC24C COL1A1 IFITM5 TPM3 TPM2 PYCR2 SYT2 ATP6V0A2 XYLT1 CDC6 RECQL4 HDAC8 PALB2 CCDC8 FANCE DHCR7 KLHL41 GPC6 ACTA1 YWHAE MASP1 VAMP1 SMARCC2 CHST14 EIF2AK3 NGLY1 RBM8A RFWD3 SHROOM4 GPC6 SMARCD1 COL6A2 COL2A1 PIGL SLC10A7 RNU4ATAC B3GALT6 NIPBL GTF2H5 GLI3 PTPN22 LMOD3 FZD2 FLNB PLOD1 CD247 CHST11 PUF60 DYM HSPG2 PIEZO2 CANT1 COLEC11 FLNA SMARCA2 COL2A1 SCARF2 RREB1 ARFGEF2 UBE3B SELENON FANCF EXOC6B LONP1 COL12A1 SLC26A2 FIG4 SMC3 GTF2E2 MACROH2A1 ALDH18A1 ALG9 SHOX NXN VDR FANCG NIPBL FLNA DONSON RYR1 ASXL1 PTRH2 TMTC3 TBX15 SMARCB1 COL12A1 FANCI APC2 EYA1 FANCD2 ORC1 EXT2 LMX1B TPM2 APC AEBP1 UBE2A SSR4 ANKRD55 SLC2A10 OBSL1 ATP6V0A2 EXOSC3 BAZ1B EXTL3 SMARCA4 HACD1 ASXL1 POMT2 ITGA7 ATP7A SMOC1 TGFBR1 SMO COL1A1 EBP GP1BB NEDD4L COLEC11 MYH7 SHROOM4 FLNA ERCC1 DPF2 ARID1B RAD51 NOTCH2 CHST3 ATP6V1A SMOC1 ATP6V0A2 TBX4 EIF4A3 GTF2I KIF22 LMX1B FLNB ATAD1 LRP4 OCRL DNASE1L3 DHCR7 GNPTAB CHST3 COL12A1 EXOC6B COL1A2 SLC26A2 COL6A2 ECEL1 SF3B4 IARS2 COLEC10 KAT6B RAD51C PUF60 SLC35A3 PTPN2 POMT2 COL5A1 RNU4ATAC THRA EBP ORC4 PITX1 ERCC2 IFIH1 TBX1 CD96 CLTCL1 ORC1 XYLT1 OFD1 COL2A1 SETD5 CHRNA1 MYL2 LONP1 MAP3K7 SMARCAL1 CYP27A1 STAT4 FZD2 CUL7 WNT5A COL6A3 FIG4 GLI3 FANCC WHCR COL1A1 COL5A1 CHAT NLRP3 ATP6V1A WNT7A TBL2 TGDS FLNA SLC40A1 RECQL4 RBM8A ARF1 NOTCH2 PRKAR1A CANT1 IL6ST SLC35A3 TBCD GLRA1 VAC14 FHL1 HOXA11 ATP6V1E1 USP9X GDF5 FBN1 TPM2 CDT1 IARS2 EIF2AK3 SKI FLNA COL2A1 ZMPSTE24 FLNB MBTPS2 POMT1 HSPG2 MAP3K20 KDM6A SNRPB B3GALT6 SETD2 AARS1 FLNB MAP1B KDM6A GDF5 PUF60 COL3A1 FLNA CD96 OSGEP LARGE1
Protein Mutations 1
T40S
SNP 0