SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00154960

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

In this, here we want to present a new method for analysis variation in gene copy number for patients and carriers of SMA. This is a relative quantitation method and, therefore, relies on the inclusion of one or more internal control or reference sequences; quantitation of DNA is relative to this reference sequence of known copy number. A peak height from within a potentially duplicated or deleted target region is amplified simultaneously with a disomic reference region in a multiplex PCR system.

NCT00154960 Spinal Muscular Atrophy Neonatal Hyperbilirubinemia Colon Cancer
MeSH: Atrophy Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia Hyperbilirubinemia, Neonatal
HPO: Neonatal hyperbilirubinemia Skeletal muscle atrophy Spinal muscular atrophy



Purpose: Screening

Time Perspective: Longitudinal, Prospective

Case Control


There is one SNP

SNPs


1 G71R

The high allele-frequency of Gly71Arg and promoter polymorphism in UGT1A1 gene was found to be responsible for neonatal hyperbilirubinemia without obvious cause. --- Gly71Arg ---



HPO Nodes


HPO:
Neonatal hyperbilirubinemia
Genes 8
UGT1A1 EPB41 GYPC SPTA1 SPTB IGF1 FBP1 GPX1
Skeletal muscle atrophy
Genes 453
VAPB TPM2 HEXB TPM3 MKKS MAG SDHAF1 AARS ERBB3 ERBB4 ABCA1 PNKP B4GALT7 HINT1 STUB1 ACADSB SIGMAR1 LEMD3 PYROXD1 DNAJC19 KDM5C SPEG RPS6KA3 ACTA1 ACTB GDAP1 SCYL1 SLC5A7 WDR81 PEX6 PEX7 PEX10 EXOSC8 CHAT ANO5 AK9 KLHL41 RXYLT1 PFKM MDH2 PFN1 DYSF CHN1 COLQ TFG PLEKHG5 TTN HNRNPA1 TTPA MECP2 TRIP4 HNRNPA2B1 RTN2 CHRNA1 ARSI WARS2 CHRNB1 SLC39A13 RYR1 CHRND CHRNE CHRNG PRUNE1 ADK ARL6 PHKA1 TTC8 PNPT1 PHYH UBA1 NDRG1 ADSL NALCN ATXN1 ATXN2 FKTN CPT1C PIK3R2 AGL PGAP1 SCN4A ATXN3 RETREG1 SCN9A CYP7B1 MME FLRT1 CEP126 PLEC PYCR2 FHL1 POMK DNAJB2 GMPPB DHTKD1 LTBP4 PLP1 SLC9A6 HSPB1 SDHA SDHB VCP SDHD COL2A1 PMP22 CUL4B COL4A1 POMT2 MPZ MRE11 COL6A1 HSPG2 COL6A2 FLNA TRAPPC11 VLDLR COL6A3 FLNC AMPD2 PSAT1 BIN1 VRK1 FBLN5 COL12A1 COL13A1 UBQLN2 ANG MYOT NOP56 SLC25A4 FKRP SGCA SGCB LITAF SGCD SGCG KLHL40 RRM2B POLG FLVCR1 ANXA11 B3GALNT2 LZTFL1 CEP290 CNTNAP1 BAG3 SPTLC1 WRN BBIP1 PON1 PON2 KLC2 PHF6 PON3 POMGNT1 ALS2 SPG11 DUX4 TMEM43 POMT1 FXN CCDC115 CPT1A GBA2 TCAP AR PRX YARS ERLIN1 CHMP2B LIMS2 JPH1 SPTBN4 MST1 IFRD1 PIEZO2 MTAP ATP8 COX1 COX2 COX3 CCT5 SLC16A2 TRIM32 ASAH1 FARS2 SLC18A3 PDE8B SLC25A1 FRG1 IGHMBP2 MTM1 TBK1 C12ORF65 ND1 ND4 ND5 ND6 PRKACA PRKAR1A PUS1 KBTBD13 TRNE TRNF SMN1 NDUFAF6 TRNH CTLA4 TRNL1 ATM NGLY1 SNAP25 CTNS FUS COASY TRNQ TBC1D23 TRNS1 TRNS2 C9ORF72 TDP1 RNASEH1 TRNW BBS12 ABHD12 MUSK UNC13A SOD1 MGME1 MYBPC1 KIF1C PRPH PRPS1 SOX10 IBA57 MYH7 CHCHD10 B4GALNT1 SETX ZBTB20 ATP7A SPAST DCAF8 REEP1 KIF1A NDE1 MYO9A MYOD1 IFT172 SEPTIN9 ATP8A2 INPP5K MATR3 SDCCAG8 LRSAM1 KIF1B APTX GARS STAC3 INSR NAGA MAP3K20 PSMB8 DAG1 BBS1 BBS2 SPART GBE1 BBS4 DAO NBN TUBB2B SLC46A1 MCCC2 PLXND1 COL25A1 ITGA7 NEB NDUFA9 PTEN SUCLG1 ZC4H2 SUCLA2 WNK1 DCTN1 BBS9 GFPT1 PHGDH NDUFS4 TTC19 MKS1 FBXL4 FAM111B SLC52A3 STIM1 NEFH FBXO38 BMP1 DES PPARGC1A NEFL NEK1 GJB1 NEU1 KLHL9 PNPLA6 ANTXR2 DHH NDUFA12 GLB1 SACS FIG4 WASHC5 FGD4 GLE1 SQSTM1 SURF1 DGUOK C19ORF12 MYPN SYNE2 AFG3L2 VAMP1 FAM126A VPS13A MTMR2 MYMK PEX5 MFN2 RAB7A ALDH18A1 AP1S2 MAFB KIF5A NIPA1 GNAS DMD SLC52A2 DMPK CPLANE1 DNA2 HSPB8 DYNC1H1 CFAP410 AGTPBP1 TBCD DNM2 FKBP14 TBCE PDE11A CA8 ADSSL1 HNRNPDL NPHP1 BICD2 SLC12A6 SFXN4 IFT27 SCO2 SH3TC2 TCF4 PNPLA2 VMA21 PLOD3 RAPSN HSPB3 B4GAT1 GNE GPR35 COG7 SYNE1 SMCHD1 DOK7 CAPN1 CAPN3 NUP88 ASCC1 EXOSC3 LAMB2 B3GALT6 CRPPA DNM1L LAMP2 LMNB2 SYT2 AIP BBS5 CAV3 RBM28 REV3L SLC7A7 TYMP PIP5K1C SELENON OGDH OPA1 WDPCP MSTO1 NARS2 DARS2 ATL1 SIL1 POLR3A YARS2 BBS10 TGFB1 CCNF ERGIC1 KY TARDBP LMOD3 USP8 LDB3 VPS13D OPTN ERLIN2 HMGA2 POMGNT2 LMNA TIA1 EGR2 INF2 MYH14 ATAD3A AIFM1 CD28 BBS7 TK2 GYG1 SBF2 ENTPD1 MED25 TREM2 CD59 LRP4 GAN TRPV4 ZFYVE26 BSCL2 TAF15 EMD C8ORF37 HARS SPRTN TNFRSF1B SLC25A19 TNNT1 AGRN TNXB SLC33A1 EPHA4 LARGE1 TPI1
Spinal muscular atrophy
Genes 20
ASCC1 VAPB BICD2 DNAJB2 SIGMAR1 FBXO38 PLEKHG5 ASAH1 EXOSC8 TK2 TRIP4 TRPV4 SMN1 DYNC1H1 CHCHD10 VRK1 IGHMBP2 UBA1 TBCE ATP7A