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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:
HP:0003202: Skeletal muscle atrophy
Genes 746
SPTBN4 AARS1 FUS LMNA SPEG RYR1 BBS10 PYCR2 POLR3A SGCD AP1S2 FAM126A PYCR2 ENTPD1 ACTA1 TDP1 SLC12A6 HEXB TCF4 LMNA GDAP1 VLDLR INSR TNFRSF1B OPTN YARS2 GMPPB C12ORF65 CAPN3 MPZ RRM2B SPART NEU1 SLC33A1 TRNL1 RYR1 ATP7A BSCL2 SOD1 CPT1C LARGE1 IFRD1 SLC25A4 DAG1 KY DAG1 SCYL1 TNNT1 COG7 PPARGC1A SACS TBK1 MST1 MSTO1 PSMB8 LMNA C12ORF65 MAFB MYOT REEP1 MME POLG SQSTM1 WNK1 MYH3 TFG ALDH18A1 EXOSC8 PDK3 LRP4 KIF1C DOK7 TTC19 MPV17 SLC39A13 ADSS1 CA8 B4GALNT1 NEFL ND1 POMK INPP5K MFN2 SLC5A7 AIP ZFYVE26 COX2 SH3TC2 ABHD12 C12ORF65 HINT1 FLNA TYMP UBQLN2 FKTN SLC52A3 ACTA1 GDAP1 PNKP FUS C9ORF72 ATXN3 NEFL PMP22 FBLN5 SIGMAR1 ACADM C19ORF12 FHL1 ANO5 SMN1 HNRNPA2B1 PDE11A PHF6 MATR3 COL6A2 MTM1 TTN TBC1D23 SIL1 DGUOK AIFM1 RAPSN SPART COG8 CPLANE1 GYG1 TRNQ CHRNA1 DCTN1 GJB1 TRPV4 PMP22 CCT5 SOX10 COL6A2 GLE1 PHGDH C9ORF72 ATXN3 BIN1 EGR2 ACTA1 DARS2 VAMP1 SLC18A3 STAC3 ATXN3 CHMP2B FIG4 DUX4 REEP1 DNM2 HMGA2 TK2 TRNS1 ASAH1 GFPT1 CPT1C CHMP2B PSAT1 ADSS1 ABCA1 BIN1 FARS2 HNRNPA1 ATP8A2 CCT5 SGCB SYNE1 NEB VPS13A KLC2 BVES GARS1 RYR1 DYSF ARSI PNPLA6 POLG SUCLA2 NAGA SYNE2 NDRG1 FKBP14 PLP1 ATL1 ATXN2 SQSTM1 SYNE2 SCO2 LAMB2 OGDH SLC52A2 SELENON COL6A1 TPM2 RYR1 SDHB FBXO38 ZC4H2 BBIP1 FKRP KLHL41 VCP B4GALT7 PDE8B MUSK LMNA POMGNT1 DMD FXN DNAJB2 SLC16A2 VCP DES LMOD3 GBA2 SPAST LITAF YARS2 SMN1 EGR2 RTN2 TBCK BBS1 POMT1 ASCC1 LEMD3 MYH7 RPS6KA3 BMP1 COL6A3 POMT1 MYMK VRK1 CHRND PNPLA2 PHKA1 SGCD COQ2 GNE CAPN1 MKKS CYP7B1 VPS13A YARS1 DYSF SDCCAG8 FLNC NUP88 SLC52A2 KDM5C INSR TRPV4 CTNS ANG FIG4 GJB1 VCP PRX COX1 PMP22 TPM3 SQSTM1 LMNA NUP88 SURF1 GDAP1 RXYLT1 DCTN1 SACS ND5 TAF15 COL6A1 EMD ND4 ZC4H2 EXOSC3 WARS2 CAPN1 AGRN ATAD3A ATXN1 SMCHD1 SNAP25 MUSK SALL4 FHL1 PON1 TGFB1 SLC25A1 MFN2 CUL4B FLNC SLC25A19 AFG3L2 TIA1 STAC3 ASAH1 LDB3 COL6A3 REEP1 CAPN3 FLRT1 ERLIN2 TARDBP TPI1 CRPPA RAI1 BSCL2 GARS1 CHRNE TRIM32 KBTBD13 TRPV4 HSPB1 PRPH MYH7 LEMD3 TGFB1 MPZ DMPK NPHP1 WRN HNRNPA2B1 PIK3R2 SLC18A3 VCP EGR2 NOP56 TREM2 PUS1 GDAP1 CHRNB1 COL6A1 PIEZO2 ERBB3 MUSK DOK7 LAMP2 PHKG2 MME LRSAM1 DYNC1H1 TTN PLXND1 PFN1 ACTB POMT1 HSPB3 PUS1 ND6 C9ORF72 ACADSB AP1S2 USP8 RETREG1 CPT1A ATM STUB1 KIF1A SCN4A KIF1A CHAT CD59 CHRNB1 SOD1 GLT8D1 TRNL1 NEFH SDHD TRNF ANG GLE1 PFN1 NEK1 OPA1 DOK7 PRPH GAN ATL1 BICD2 TRAPPC11 NAGA ALDH18A1 DNAJC19 BBS7 RYR1 BBS2 ERLIN1 MYBPC1 NGLY1 PNKP CRPPA COLQ CHCHD10 GDAP1 ALS2 AIFM1 DYSF VAMP1 BBS9 FKTN GNE DHH TIA1 MYOT MECP2 TK2 FKTN KIF1C FARS2 MPZ COA7 B4GAT1 KIF1B MYH7 FRG1 ZFYVE26 SLC46A1 KIF5A HNRNPA1 LZTFL1 SETX ATL1 TPM3 RBM28 CHRNE HSPB1 DYSF ITGA7 B4GALNT1 TCAP PNPLA6 DHTKD1 WASHC5 ZBTB20 MFN2 ATP8 TARDBP SLC39A13 YY1 DNM1L SPRTN FBXL4 INF2 SUCLG1 CEP126 CRPPA COL2A1 SIL1 TNNT1 PRX TRAPPC11 MPZ SDHA VAPB AR RRM2B NDE1 SMN2 CRPPA CNTNAP1 KCNK9 TPI1 MAP3K20 REV3L PLEC SMCHD1 TRIP4 DCAF8 UBA1 RBM28 GLE1 KLHL9 TBCD HINT1 DGUOK ATXN2 UNC13A CHRND TBK1 ANO5 TBCE SLC5A7 FUS PYROXD1 GFPT1 NBN MPZ TUBB2B CHP1 DARS2 SPG11 CFAP410 SETX TBCE CTLA4 MATR3 VAPB TPM2 MPZ AFG3L2 ATAD3A COL4A1 HSPG2 HSPG2 MDH2 TOE1 FGD4 TFG CCNF CEP290 PNPT1 IGHMBP2 PMP22 C19ORF12 TRAPPC11 COL6A1 POLG BBS12 CD28 COL6A2 RNASEH1 AGL VCP ADSL SLC52A2 BICD2 WDR81 ACTA1 PEX7 ATXN1 ERBB4 SEPTIN9 PLEKHG5 PFKM CCDC115 MPZ MTAP NEU1 AGTPBP1 NARS2 MYO9A AGRN MKS1 TPM2 MPZ NDUFA9 SYNE1 NOP56 ERGIC1 TMEM43 COL6A3 BICD2 ALS2 ERGIC1 PEX10 GBE1 CAPN3 SDHAF1 SLC7A7 BSCL2 IFT27 BAG3 NIPA1 TK2 LMNA HARS1 TRIM32 VMA21 SGCA LRP12 RNASEH1 CHRNE PLEC COASY HSPB8 AMPD2 MGME1 FKRP NALCN NEB TTN APTX TNXB MYH7 LTBP4 TTN ARL6 TBK1 POMT2 MORC2 LMNB2 SQSTM1 ACTA1 NDUFS4 COL12A1 MYPN TTPA DCTN1 TRNE PSMB8 MGME1 NDUFA12 MYMK SQSTM1 TRNW MTMR2 COX3 PLOD3 BSCL2 PEX6 SCN9A FKRP DNA2 VPS13D KLHL41 IFT172 MYPN STIM1 NEFH GLE1 TRNH LMOD3 OPA1 PHKA2 DAO TPM3 KLC2 GPR35 FLVCR1 BBS4 SLC16A2 NEB PON3 ERLIN1 FAM111B TNXB TRNS2 SGCG COL12A1 ATXN3 COL13A1 RAPSN GJB1 NEB AK9 KIF1A REEP1 ANTXR2 MCCC2 PNPLA6 PIP5K1C ADK TTC8 CHCHD10 SELENON NEFH PRKACA TTN SLC33A1 MAG SLC9A6 PRUNE1 SCN4A PRPS1 FRG1 TMEM43 MRE11 CHRNG IBA57 ANO5 HNRNPA1 ERLIN2 FKBP14 SFXN4 COL13A1 WDPCP TPM3 KLHL41 AMPD2 POMGNT2 PMP22 BBS5 MED25 COL6A2 CHRNA1 SLC52A3 PGAP1 PTEN GNAS HNRNPDL ALDH18A1 EPHA4 SPTLC1 CAV3 POMT2 PNPLA6 ACTA1 PON2 GLB1 VAPB LIMS2 COL6A3 COL6A2 PRKAR1A PMP22 MYH14 SYT2 SYT2 TDP1 RAB7A GARS1 SPG11 B3GALNT2 PEX5 HUWE1 TBCD ANXA11 AIFM1 CHN1 SMN1 TRPV4 MYOT VCP MYOD1 VCP NDUFAF6 SBF2 C19ORF12 CHRNB1 JPH1 TIA1 CHCHD10 SELENON C8ORF37 LMNA DMD SMN1 MPZ KLHL40 PHYH TARDBP KY
Protein Mutations 1
G71R
SNP 0