SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT00383318

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Demographic, Metabolic, and Genomic Description of Neonates With Severe Hyperbilirubinemia

The purpose of this study is to compare the demographic, metabolic, and genomic characteristics of patients who develop severe hyperbilirubinemia to patients who never developed a significant bilirubin level.

NCT00383318 Hyperbilirubinemia Jaundice
MeSH: Jaundice Hyperbilirubinemia
HPO: Jaundice

1 Interventions

Name: Gene mutation sample

Type: Procedure



Time Perspective: Prospective


There are 8 SNPs

SNPs


1 C1091T

The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A --- --- C1091T ---


2 C563T

The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T ---


3 C686A

The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A ---


4 G1376T

The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T --- --- G1376T ---


5 G1388A

The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A --- --- C563T --- --- G1376T --- --- G1388A ---


6 G202A

The gene mutations we will test for are: - Glucose-6-phosphate Dehydrogenase Deficiency [G6PD] gene mutations - African A- mutation (G202A;A376G) - The common Mediterranean mutation (C563T) - Two common Chinese mutations (G1376T and G1388A) - UGT1A1 polymorphism. --- G202A ---


7 G211A

The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A ---


8 T1456G

The UGT1A1 gene polymorphisms refer to those genetic defects found to be associated with Gilbert's Syndrome, including a promoter defect (T-3263G) that disrupts a transcription regulatory site, the TA repeats promoter polymorphism, and four mutations within the coding region (G211A, C686A, C1091T, and T1456G). --- G211A --- --- C686A --- --- C1091T --- --- T1456G ---



HPO Nodes


HPO:
Jaundice
Genes 162
NPC1 RNASEH2B CDKN2A GPI KRAS TPO DPAGT1 MPV17 IL12A FLI1 IL12RB1 PRSS1 TREX1 PRSS2 TCF4 KRT8 HNF1B DCDC2 GLRX5 GALE GALK1 ATP6AP1 ATP7A HK1 ATP7B LHX4 ANK1 GALT ACADL SPIB TRHR SPINK1 KRT18 RNASEH2A GPR35 COG7 C15ORF41 AMACR PIEZO1 SLC26A4 SPTA1 SPTB PEX3 CFTR ETFA ETFB ETFDH AKR1D1 IYD PEPD CTRC PEX1 PEX6 PEX10 PEX12 POU1F1 DUOX2 SLCO1B3 PEX13 POU2AF1 PEX14 CPA1 CASR IRF5 NPC2 SAMHD1 HMGCL TSHB ADAMTS13 ATP8B1 TSHR LHX3 LBR CPOX CCDC115 PFKM PEX11B HNF4A ADAR SLCO1B1 SP110 F5 LYST TFAM PALB2 SLC2A1 HESX1 CLDN1 RHAG PEX26 SLC4A1 RNU4ATAC ABCB4 CASK TG SLC5A5 UGT1A1 JAK2 MST1 TBX19 TRMU IFIH1 CDAN1 NBAS PTPN3 HSD3B7 SERPINA1 LIPA VIPAS39 MMEL1 THRA THRB BPGM BRCA1 BRCA2 VPS33B PAX8 PRF1 GYPC TTC37 DGUOK IER3IP1 JAG1 DHFR RNASEH2C PEX19 PEX16 PKLR ABCD3 PEX2 PRKAR1A PEX5 ABCB11 KCNN4 NKX2-5 CYP7B1 ATP11C SMPD1 ABCC2 COX4I2 OCLN ALDOA HBB ALDOB HBG2 IL2RG EIF2AK3 G6PD SLC30A10 TNFSF15 PALLD TNPO3 RAB27A NR1H4 EPB41 SEC23B TP53 EPB42 SMAD4 PROP1 DUOXA2 TPI1