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Report for Clinical Trial NCT00154960

Developed by Shray Alag, 2020.
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: Muscular Atrophy Muscular Atrophy, Spinal Hyperbilirubinemia, Neonatal Atrophy Hyperbilirubinemia
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 11
SPTA1 UBE2A GYPC UGT1A1 SPTA1 UGT1A1 GPX1 FBP1 SPTB EPB41 IGF1
Skeletal muscle atrophy
Genes 740
MPZ DOK7 VCP AIFM1 COL12A1 COL13A1 RNASEH1 ALS2 CCDC115 ATXN3 HSPB1 OPA1 MTM1 CHRNB1 MYPN MYH7 SLC5A7 ANO5 HSPB3 WASHC5 SLC16A2 MCCC2 POMT2 PMP22 RAPSN TTN SLC18A3 C8ORF37 MPZ COL6A1 SQSTM1 FUS VRK1 PLEC SUCLA2 TMEM43 MUSK PON2 SOD1 COLQ MYO9A EMD SLC25A4 CEP126 OPTN SLC18A3 PNPLA6 TDP1 MYH7 ADK TTN HNRNPA1 REEP1 FKBP14 TBCD SPART PRUNE1 CUL4B ERLIN2 ATP7A ERGIC1 ITGA7 GARS1 SDHA MAG HEXB C9ORF72 FUS RRM2B TTN MYPN FUS STAC3 AP1S2 TMEM43 GBE1 LARGE1 CYP7B1 C9ORF72 DMD TRNF DMD FLNC MPZ NDUFA9 DOK7 SMN1 MSTO1 OPA1 FHL1 MPZ FARS2 INSR COL12A1 PNPLA6 HNRNPA2B1 LMOD3 SPEG SDCCAG8 KIF1A TNXB DES COL6A1 LEMD3 PHKA1 ASAH1 ATXN3 ATL1 NEB NDUFAF6 COG7 MYH7 HSPG2 PHKG2 ALDH18A1 ABCA1 CHP1 AIFM1 MST1 ENTPD1 COL4A1 SURF1 LMNA AGTPBP1 NDRG1 SIL1 CD28 SH3TC2 TCAP GDAP1 FXN TRAPPC11 HARS1 TTC19 POMT1 SLC39A13 COL2A1 TRPV4 ASCC1 FKTN ACTA1 GDAP1 ND5 DHH ALDH18A1 COASY MYOT LAMB2 TRPV4 SLC5A7 VCP MPZ SCN4A PYROXD1 SACS B4GALNT1 BVES SIGMAR1 SDHAF1 SLC7A7 IBA57 C12ORF65 NUP88 HMGA2 CRPPA SLC52A2 SGCG FAM111B NDE1 TRNH PIEZO2 NEU1 MATR3 CHMP2B BBS10 LMNA AIP CHN1 BSCL2 MPV17 PIK3R2 SLC52A3 TRNL1 BBS1 NGLY1 HUWE1 SPG11 CPT1A ANG SELENON ALDH18A1 SCYL1 GLE1 BAG3 MUSK EXOSC8 BBS7 PNPLA6 PRX VPS13A B4GALNT1 PLEKHG5 ANO5 HNRNPA1 CFAP410 PFN1 RBM28 ATAD3A FLRT1 TK2 GAN SPRTN POLG C9ORF72 CAPN1 TNNT1 FARS2 SETX VAPB TRNS1 CAPN1 PMP22 MME NPHP1 CA8 INSR TRPV4 CHCHD10 VAMP1 NEFL RETREG1 CCT5 GFPT1 B3GALNT2 DCAF8 MPZ ACTA1 TIA1 HNRNPA2B1 HSPB8 UBA1 SYNE1 RAPSN CD59 VAMP1 INPP5K PLP1 PSMB8 FBLN5 TREM2 ATXN1 LEMD3 HSPG2 ARSI PRKAR1A COX1 GLB1 AGL COA7 ACTA1 TK2 TPM3 GDAP1 SLC25A1 STAC3 PFN1 PIP5K1C TUBB2B REEP1 LDB3 SETX COL6A1 KLC2 MFN2 MKKS PNPLA6 SLC46A1 RAB7A BBS5 PEX10 SLC52A2 GLE1 TRNW CHCHD10 COX3 GNE TTPA VCP DAO COL6A2 POLR3A BSCL2 POMK LIMS2 CNTNAP1 TGFB1 NOP56 LMNB2 VMA21 PSAT1 GDAP1 MAFB COX2 SIL1 TBCE C19ORF12 KCNK9 RYR1 DCTN1 SYT2 RTN2 WNK1 ERLIN2 TBCE FLNA PNPT1 SLC9A6 KIF1A C12ORF65 ERBB4 CHRNE TPM2 PON3 GLE1 WARS2 SYNE2 TTN NEK1 MGME1 COL6A1 ATAD3A GNAS AP1S2 SFXN4 TPM3 SLC52A2 SLC39A13 TBCD ZC4H2 ACTB DYSF NEFH PMP22 ATXN2 PHYH CPLANE1 BBS9 DNM2 SCN9A YARS2 KLC2 FRG1 DYSF ZFYVE26 PRPH TRAPPC11 REEP1 CAPN3 CHRND SYNE2 NAGA MYH3 PRPH PEX6 UBQLN2 ANTXR2 LMNA SQSTM1 MPZ PUS1 TNNT1 SCN4A COL6A3 ND4 SYT2 INF2 NEU1 ANG COL6A3 BMP1 POMGNT2 DYSF CHRNG BSCL2 NEFH TRIM32 TYMP KIF1B PMP22 COQ2 SLC52A3 TPM2 TARDBP SACS OGDH B4GALT7 DAG1 BSCL2 AGRN TRNQ FLNC ERLIN1 CCT5 GLT8D1 MFN2 DAG1 PGAP1 FKRP SOD1 TIA1 FGD4 SUCLG1 MECP2 SMCHD1 RYR1 TFG ZFYVE26 PDE11A LRP4 SLC25A19 VLDLR SGCB PEX7 CRPPA SQSTM1 RBM28 FKRP AK9 DNAJB2 COL6A2 NAGA LAMP2 MPZ SQSTM1 ZC4H2 BICD2 GYG1 TPI1 LZTFL1 SGCD GLE1 GPR35 CTNS DYSF TARDBP CHRND PYCR2 BIN1 PHGDH RYR1 HINT1 EGR2 COL6A3 COG8 VAPB DUX4 TIA1 FBXL4 B4GAT1 ATXN2 TNXB USP8 BBS2 TRNE EGR2 CAV3 KIF1C CPT1C MATR3 TGFB1 TRIM32 ERGIC1 MME KDM5C ATXN3 ABHD12 SBF2 ADSS1 PUS1 KLHL9 MTMR2 MKS1 NEFH RRM2B COL25A1 PNKP APTX PRKACA AIFM1 CCNF SDHD COL6A2 ANXA11 DNM1L MUSK VCP BIN1 BICD2 FHL1 FIG4 ATL1 TARDBP VAPB PNPLA2 ATP8A2 PMP22 KLHL41 HNRNPDL PSMB8 TNFRSF1B PEX5 C19ORF12 POLG C19ORF12 MRE11 DYNC1H1 SQSTM1 RXYLT1 WDR81 TOE1 ND6 ACTA1 DARS2 PRPS1 REEP1 FKTN EXOSC3 ADSL YARS1 NALCN RNASEH1 LMNA ACADSB SEPTIN9 ACADM MYOT KBTBD13 ACTA1 MTAP UNC13A ATP8 RPS6KA3 DGUOK CHRNE NEB BBS12 AMPD2 NBN IFT172 SLC33A1 MYMK PDK3 COL6A2 TFG COL6A2 IGHMBP2 PRX SPTBN4 TK2 SMN2 WDPCP FLVCR1 KY GBA2 NEFL EGR2 IFRD1 JPH1 CHRNA1 RYR1 SNAP25 MYH7 ERBB3 CPT1C TDP1 LMNA KY SLC16A2 PLXND1 LRP12 SMCHD1 AR SPART PON1 VCP PFKM AFG3L2 ANO5 SGCD NEB DNA2 CEP290 KIF1C EPHA4 BICD2 DCTN1 ERLIN1 LITAF SOX10 LMNA DGUOK LTBP4 ATXN3 CTLA4 DCTN1 CAPN3 CHMP2B MYOT AFG3L2 TRNS2 SYNE1 STUB1 NUP88 RYR1 GARS1 MFN2 TPM3 SPAST SPG11 TRAPPC11 CHAT TTC8 SGCA AMPD2 ATXN1 ADSS1 FIG4 GJB1 NARS2 BBIP1 MYOD1 POMT1 PPARGC1A SELENON MDH2 CRPPA SELENON POMT1 GNE TRIP4 TTN CRPPA FRG1 KLHL41 TAF15 KLHL40 CAPN3 SLC12A6 ATM KIF5A TBK1 FBXO38 ARL6 STIM1 PLOD3 SMN1 ACTA1 VPS13A POLG CHRNB1 DOK7 DNAJC19 ND1 CHRNB1 NEB TBK1 GDAP1 FKRP IFT27 SLC33A1 PNKP COL6A3 PDE8B PLEC DMPK AARS1 TPM2 MGME1 TRPV4 FAM126A ALS2 CHCHD10 HINT1 TRNL1 TCF4 COL13A1 NDUFA12 FKTN POMGNT1 ZBTB20 LMOD3 SDHB HSPB1 TPI1 SPTLC1 SCO2 TPM3 REV3L NOP56 DARS2 KIF1A MYH14 LRSAM1 MPZ MAP3K20 WRN PTEN NIPA1 FKBP14 LMNA POMT2 PHKA2 GJB1 KLHL41 YARS2 BBS4 ATL1 CHRNE GFPT1 MYBPC1 TBC1D23 SMN1 GARS1 MYMK GMPPB VPS13D VCP CHRNA1 MED25 DHTKD1 TBK1 GJB1 ASAH1 PHF6 NDUFS4 PMP22 SMN1 AGRN HNRNPA1 VCP
Spinal muscular atrophy
Genes 26
EXOSC8 ASAH1 SIGMAR1 BICD2 TBCE KCNK9 IGHMBP2 PLEKHG5 FBXO38 TK2 SMN2 VAPB SMN1 TBCE DYNC1H1 SMN1 TRPV4 ATP7A SMN1 ASCC1 DNAJB2 CHCHD10 VRK1 TRIP4 UBA1 SMN1