SNPMiner Trials by Shray Alag

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Report for SNP rs2089760

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials

1 TGFB1 and LAMA1 Gene Polymorphisms in Turkish Children With High Myopia

The investigators aimed to investigate TGFB1 and LAMA1 gene polymorphisms in children with high myopia in order to determine the genetic basis of large myopic shifts causing severe visual impairment and complications. Seventy-four children with high myopia (≥6 diopters [D]; study group) and 77 emmetropic children (±0.5D; control group) were included. Genetic and polymorphism analyses were performed in the Medical Genetics Laboratory using DNA purified from the patients' blood samples.

NCT03451877 High Myopia Gene Mutations Genetic: TGFB1 AND LAMA1 GENE POLYMORPHISMS
MeSH:Myopia
HPO:Myopia

evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia.

Primary Outcomes

Description: evaluated polymorphisms in the LAMA1 (rs2089760) and TGFB1 (rs4803455) genes in children younger than 13 years of age with ≥6 D myopia

Measure: Genetic basis of high myopia

Time: 4 years

HPO Nodes

HP:0000545: Myopia
Genes 461
SMS HACE1 GLE1 SMARCAL1 SLC12A6 LIMK1 MPLKIP AMMECR1 POMT1 WDR35 FBN2 FBN1 AFF4 ARID1B PTEN FGFR3 COL9A2 TCF4 SAG MYO5A ARL6 KIF11 ELN UBE3B OPTN PWAR1 GMPPB COL2A1 ZNF644 ATRX MED13L CRYGD COL2A1 CHMP1A COL2A1 SLC39A5 IFT122 GJA1 COX7B NRAS PRDM5 CACNA1F NFIX FKTN OPN1MW RHOA BPTF AEBP1 CRYBA2 ZSWIM6 AGK USH2A WDR26 GJA1 COL2A1 PCYT1A AGK NT5C2 B3GALT6 RNF113A RAI1 TFAP2A KDM5C CHST14 CYP4V2 LTBP2 UCHL1 KCNH1 LRP2 CLDN16 MAN2B1 GJC2 FKRP POMGNT1 TRPM1 BRAF COL2A1 SKI MIR140 RAD21 COL2A1 MBD5 COL11A1 KIAA0586 MYOC COL9A2 COL2A1 GZF1 KLHL7 CABP4 TRPM1 NDN DSE FANCI CRYGC SCO2 IQSEC2 COL4A1 TEAD1 VARS1 SDHC ARR3 CACNA1F TAF1 GMPPB GPR179 TRAPPC11 KCNV2 CPSF1 ATAD3A MAGEL2 SMC1A ADGRV1 GTF2IRD1 LRIT3 SNORD115-1 HACE1 RPL10 COL18A1 SH2B1 RBM10 RFC2 PSMD12 ADAMTS10 GTPBP2 NSD1 TWIST2 C12ORF57 B3GALNT2 POMGNT1 ACOX1 ANKRD11 DEAF1 POMT1 SNRPN CLIP2 COL4A3 POMT2 FKTN POMK TBC1D7 SLITRK6 TCF20 TRNT1 ERCC3 OCA2 ENPP1 SOX5 ATP6V0A2 PPP2R5D BTD GRM6 AKT1 MYOC SMS SETD5 GJA8 CRIPT NSUN2 TMEM94 PAX2 COL1A2 SEC23B DNAJC21 RPGR PIK3R1 FKTN EMC1 TIMM8A RERE ZNF469 AKT1 NYX PTPN11 TBC1D24 GNPTG C8ORF37 TARS1 ADAMTS10 POMT2 ELP1 COL18A1 SLC24A1 NBAS FKBP14 COL5A1 VCAN VPS13B PACS1 RMRP FBN1 CACNA1F SETD5 POLR3A ELOVL4 CLDN19 PWRN1 XYLT2 CRYAA DAG1 USP7 KMT2A HUWE1 COL11A1 PTEN TKFC ABCC6 ALDH3A2 RPL10 COL5A2 GPR179 LTBP2 CYP1B1 TFAP2B AHDC1 USP9X NT5C2 CACNA1F SOX5 CDC45 TUB TCF4 EIF2S3 MAGEL2 BMP4 TTC8 MAF IPW BCL11B KDM5B ERBB3 IFT122 NR2F1 PMM2 XYLT1 SON POMT1 HDAC8 FKRP TRIT1 SDHD RP2 PIK3CA OAT PRDM5 ACSL4 CHST14 RECQL4 FKRP MC1R TRAPPC11 POLR3A CCDC28B HERC1 MSX2 KRAS COL2A1 EMC1 B3GALT6 NIPBL B3GLCT GTF2H5 RAI1 PLOD1 HSPG2 POMGNT1 CRYBB1 FKBP14 COL2A1 MYO7A LAMA1 COL11A1 UBE3B ZNF408 EXOC6B NPAP1 FKRP ADAMTS2 HTT EPHA2 P4HTM MAN2B1 WHRN SMC3 GTF2E2 GRK1 ALDH18A1 FKTN CTNNB1 HDAC8 NIPBL GLRB LOX ZNF469 COL4A3 ASXL1 GPAA1 UBE3A PDZD7 KRAS POMGNT1 POLR3B EED LAMB2 BFSP2 IGF1 HADHA LARGE1 MBTPS2 RP1 POLR3A POMT1 LRP2 YME1L1 SLC2A10 FKRP ATP6V0A2 MAP2K1 BAZ1B LRPAP1 PTEN WAC PIK3CA POMGNT1 HS6ST2 ASXL1 POMT2 POMT2 EXOSC2 GNAT1 GMPPB HERC2 COL4A5 ABCC6 PLOD3 THOC6 TCF4 NONO GPR143 EFL1 CASK GRM6 GPAA1 MKRN3-AS1 TYR LOXL3 NOTCH2 JAG1 ATP6V1A CACNA2D4 COL4A4 COL9A3 SLC25A4 KLLN TULP1 ATP6V0A2 NYX LIG4 NONO CDK8 ADAMTS17 GTF2I WDR19 AGBL5 IFT52 MAP2K1 POLR3B SMC3 PIGT PTEN MAP2K2 KCNE5 BRAF COL12A1 IRX5 POGZ COL9A1 LTBP2 B3GALNT2 CBS LARGE1 IFT43 RIN2 AKT1 ATAD3A CRYBA4 PACS2 VPS13B POMT2 COL5A1 OAT LAMA1 BRAF MKRN3 OPN1LW GNB3 FBN1 ARCN1 ERCC2 IFIH1 TBC1D24 ADAMTSL1 GNB3 RAB28 CHM CAMK2G SIM1 FLII SETD5 DPYD BMP4 PLOD1 SNORD116-1 KIF11 POGZ BBS1 COL1A1 LRIT3 FBN1 TBL2 AMMECR1 SDHB COL11A1 MAP2K2 FBN1 CANT1 RHO USF3 CCNQ WDR19 ATP6V1E1 CSPP1 PDE6B AP1B1 USP9X CBS POLR1C P3H2 COL2A1 FBN1 P4HA2 NDUFB11 CLDN19 COL11A1 ZSWIM6 COL11A1 BLOC1S3 CNGB3 SKI POMT2 COL2A1 POMT1 HSPG2 ADAMTSL4 COL9A1 ANTXR1 PUF60 CRYBB2 PRIMPOL COL2A1 LARGE1
Protein Mutations 0
SNP 2
rs2089760 rs4803455