SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G2677T

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There are 9 clinical trials

Clinical Trials


1 Prospective Study of the Influence of CYP3A4/CYP3A5 and MDR1 Gene Single Nucleotide Polymorphisms on Long-Term Tacrolimus Disposition in Renal Allograft Recipients: a Five Year Follow-up Study Using Abbreviated Concentration-Time Measurements.

An evaluation of the effects of genetically determined variant metabolizing and transporting proteins involved in the disposition of the immunosuppressive drug tacrolimus in renal transplant recipients. In a five year follow-up study tacrolimus dose-corrected exposure changes significantly and the effect(s) of single nucleotide polymorphisms of the CYP3A4/CYP3A5 and MDR1 genes on the latter is assessed in this study.

NCT00411944
Conditions
  1. Renal Transplantation

The effects of the CYP3A5*1, CYP3A4*1B, MDR1 G2677T/A and C3435T single nucleotide polymorphisms on the evolution of tacrolimus disposition are studied over 5 years in order to clarify the interrelationship between CYP3A5, CYP3A4 and MDR1 genotypes, time-dependent exposure and tacrolimus-related toxicity. --- G2677T ---


2 The Pharmacogenetics of Oxycodone Analgesia in Human Experimental Pain Models

Thirty-two healthy volunteers will be submitted to experimental pain and on the 2 study days receive Oxycodone 20 mg po vs. placebo. Half of the volunteers will be poor metabolizers according to CYP2D6 genotype and half will be extensive metabolizers (EM) and have an enzyme with normal function. The study hypothesis is that PM will experience less pain relief than EM.

NCT00271973
Conditions
  1. Healthy
Interventions
  1. Drug: Oxycodone

Among these are the A118G SNP in the μ-receptor gene OPRM1 and the C3435T and G2677T/A SNPs in the MDR-1 gene of P-glycoprotein. --- A118G --- --- C3435T --- --- G2677T ---

Primary Outcomes

Measure: Pain threshold and tolerance measured by electrical stimulation and pain intensity measured by cold pressor test.

Secondary Outcomes

Measure: The above compared to SNPs. Plasma levels of oxycodone and metabolites.

3 The Pharmacogenetics of Oxycodone Analgesia in Postoperative Pain

Patients undergoing surgery (thyroidectomy and hysterectomy) will postoperatively receive oxycodone intravenously (IV) as pain management with morphine as an escape medicine, if there is insufficient pain relief with oxycodone. Patients' pain and side effects will be registered and after 24 hours they will answer a questionnaire. All included patients will be genotyped accordingly to CYP2D6 and relevant single nucleotide polymorphisms (SNPs), and measures of plasma levels of oxycodone will be performed.

NCT00260260
Conditions
  1. Postoperative Pain
Interventions
  1. Drug: Oxycodone
MeSH:Pain, Postoperative

Among these are the A118G SNP in the μ-receptor gene OPRM1 and the C3435T and G2677T/A SNPs in the MDR-1 gene of P-glycoprotein. --- A118G --- --- C3435T --- --- G2677T ---

Primary Outcomes

Measure: Responder (satisfaction with pain treatment in questionnaire and no escape medication)

Measure: Non-responder (dissatisfaction with pain management in questionnaire and/or escape medication)

Measure: Responder status compared to CYP2D6 genotype

Secondary Outcomes

Measure: Registration of pain, side effects and total amount of oxycodone given compared to CYP2D6 genotype and SNPs

4 Federal Cardiomonitoring System. Determination of the Efficiency of a Single-lead ECG Recorded With CardioQVARK Cardiac Monitor in Order to Detect Atrial Fibrillation in Primary Health Centers.

This interventional prospective multicenter nonrandomized clinical and epidemiological study is the first Russian study aimed at evaluating the effectiveness of a single-lead electrocardiography device (CardioQVARK) in screening for atrial fibrillation in primary health care.

NCT04204330
Conditions
  1. Atrial Fibrillation
Interventions
  1. Device: CardioQvark cardiac monitor and software, single-lead ECG
MeSH:Atrial Fibrillation
HPO:Atrial fibrillation Paroxysmal atrial fibrillation

For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.. Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Inclusion Criteria: Men and women aged 18 to 96 years who have one or more of the following risk factors: - hypertonic disease - history of ischemic stroke or transient ischemic attacks - type 1 and type 2 diabetes - 1-3 degrees obesity - heart failure or the presence of a clinic to reduce exercise tolerance associated with shortness of breath - coronary heart disease or the presence of symptoms of chest pain, in the absence of an established diagnosis of coronary heart disease - the presence of peripheral arterial atherosclerosis - the presence of a clinic of interruptions in the work of the heart (bouts of rapid, irregular heartbeats, pauses in work of heart) Non-inclusion criteria: - Acute coronary syndrome - Acute ischemic or hemorrhagic stroke - Acute psychosis - The presence of severe concomitant diseases with an expected life expectancy of less than 2 years Exclusion Criteria: Refusal of further participation in the study Atrial Fibrillation Atrial Fibrillation This is an interventional, prospective, multicenter, nonrandomized clinical and epidemiological study. --- C3435T --- --- C1236T --- --- G2677T ---

Primary Outcomes

Description: Total number of AF cases newly diagnosed during the study period.

Measure: Total number of AF cases newly diagnosed during the study period.

Time: Through study completion, an average of 1 year

Description: Number of patients who, for the first time ever, were assigned to anticoagulation therapy.

Measure: Number of patients who, for the first time ever, were assigned to anticoagulation therapy.

Time: Through study completion, an average of 1 year

Description: Assessed using data obtained from pharmacokinetic analysis. International normalised ratio (INR) - target range from 2 to 3.

Measure: Compliance to anticoagulation therapy for warfarin.

Time: 6 months after administration of anticoagulants

Description: Assessed using data obtained from pharmacokinetic analysis. Quantitative determination of the concentration of drugs in the blood (blood sampling three hours after taking the drug).

Measure: Compliance to anticoagulation therapy for new oral anticoagulants.

Time: 6 months after administration of anticoagulants

Description: Evaluated as incremental cost-effectiveness ratio of screening per quality adjusted life year gained, and per stroke avoided.

Measure: Cost-effectiveness of using the single-lead CardioQVARK ECG device in screening for AF in primary health care.

Time: Through study completion, an average of 1 year

Secondary Outcomes

Description: Mean time to diagnosis.

Measure: Mean time to diagnosis.

Time: Through study completion, an average of 1 year

Description: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1.

Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 1.

Time: Through study completion, an average of 1 year

Description: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2.

Measure: Number of patients with a CHA₂DS₂-VASc score (the CHA2DS2-VASc Score is the most commonly utilized method to predict thromboembolic risk in atrial fibrillation) of ≥ 2.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of ischemic stroke or transient ischemic attack in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of ischemic stroke or transient ischemic attack after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of massive hemorrhage in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of massive hemorrhage after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: Defined as frequency of hemorrhagic stroke in patients with newly diagnosed AF and assigned anticoagulants.

Measure: Incidence of hemorrhagic stroke after enrollment in the study.

Time: Through study completion, an average of 1 year

Description: For warfarin - CYP2C9 (CYP2C9 * 2, CYP2C9 * 3), VKORC1 (1 marker), CYP4F2 (1 marker), GGCX (1 marker). For new oral anticoagulants - rs2244613 of the gene CES1, rs1045642 (C3435T), rs1128503 (C1236T), rs2032582 (G2677T / А) of the gene ABCB1, rs2231142 (С421А, Q141K) of the gene ABCG2, rs776746 (A6986G * 399 CYP3 CYP3) CYP3A4.

Measure: Pharmacogenetic testing by polymorphic markers

Time: 6 months after administration of anticoagulants

5 Modeling Between Plasma Concentration and Serotonin Transporter Occupancy Induced by Escitalopram in Obsessive-compulsive Disorder(OCD) Patients

To modeling the pharmacokinetic-pharmacodynamic(PK-PD) simulation with the plasma concentration and the transporter occupancy from OCD patients treated with escitalopram. To examine the effect of G2677T/A single nucleotide polymorphism(SNP) of ABCB1 gene to the PK-PD modeling in OCD patients treated with escitalopram.

NCT01936051
Conditions
  1. OCD
MeSH:Compulsive Personality Disorder Obsessive-Compulsive Disorder
HPO:Obsessive-compulsive behavior

To examine the effect of G2677T/A single nucleotide polymorphism(SNP) of ABCB1 gene to the PK-PD modeling in OCD patients treated with escitalopram. --- G2677T ---

To genotype G2677T/A SNP of ABCB1 gene in OCD patients treated with escitalopram. --- G2677T ---

Primary Outcomes

Measure: serotonin transporter occupancy

Time: 72hr after oral administration of escitalopram

Secondary Outcomes

Measure: genotype

Time: baseline

Description: scale for the severity of Obsessive-compulsive symptoms

Measure: Yale-Brown Obsessive Compulsive Scale(Y-BOCS) Score

Time: baseline

Description: serotonin transporter occupancy measured at 5 hour and 24 hour after oral dose of escitalopram

Measure: serotonin transporter occupancy

Time: within the first 24hrs after oral administration of escitalopram

Description: plasma concentration of escitalopram at baseline, 1, 2, 3, 5, 8, 10, 24, 48, 72 hour after oral dose of escitalopram

Measure: escitalopram plasma concentration

Time: within 72 hours after oral administration of escitalopram

6 Investigation Drug-drug Interaction Between Dabigatran and Clarithromycin

Dabigatran (Pradaxa ®) is a new oral anticoagulant. It is used to prevent venous thromboembolism in orthopedic surgery and has recently demonstrated efficacy and safety at least as good as anticoagulants in the prevention of thromboembolism in atrial fibrillation and the treatment of venous thromboembolism. It is administered with fixed dose and does not require laboratory monitoring because of the low inter and intra individual pharmacokinetic (PK) and pharmacodynamics (PD) of dabigatran. However, the bioavailability of dabigatran is very low (6.5%) and is controlled by an efflux protein, P-GP. This molecule has a genetic polymorphism. The inhibition of this protein can cause a significant increase in intestinal absorption of dabigatran and expose patients to a risk of bleeding by overdose. Two major drug interactions have been identified : quinidine (cons-indication) and amiodarone (precautions). It is likely that other interactions exist and can be clinically significant in patients not selected such as testing. The development of tools to study the influence of P-GP on the PK and PD of dabigatran is therefore interesting. As the P-GP has a genetic polymorphism, the study of the latter is an important element in the detection of drug interactions. In this sense, clarithromycin, a potent inhibitor of P-GP is a good model to evaluate the primary mechanism of drug interaction of dabigatran and optimize the experimental design of studies to be conducted.

NCT01385683
Conditions
  1. Healthy
Interventions
  1. Drug: Dabigatran then dabigatran and clarithromycin
  2. Drug: Clarithromycin and dabigatran then dabigatran

Genotyping of MDR-1 (gene for P-GP): C3435T SNP of exon 26, SNP G2677T / A of exon 21 and C1236T SNP of exon 12. Inclusion Criteria: - affiliated or beneficiary of a social security category - having signed the inform consent form - having signed the genetic consent form - weight between 60 and 85 kg - normal clinical exam - normal biological exam Exclusion Criteria: - contra-indication to dabigatran - contra-indication to clarithromycin - previous history of psychiatric disease, or antidepressant treatment, or convulsion, or hemorrhagic disease - smoker - peptic ulcer - severe liver disease - severe kidney failure - previous surgery within one month Inclusion Criteria: - affiliated or beneficiary of a social security category - having signed the inform consent form - having signed the genetic consent form - weight between 60 and 85 kg - normal clinical exam - normal biological exam Exclusion Criteria: - contra-indication to dabigatran - contra-indication to clarithromycin - previous history of psychiatric disease, or antidepressant treatment, or convulsion, or hemorrhagic disease - smoker - peptic ulcer - severe liver disease - severe kidney failure - previous surgery within one month Healthy null --- C3435T --- --- G2677T ---

Primary Outcomes

Description: Calculating the area under the curve (AUC) from plasma concentrations of dabigatran versus time by the trapezoidal method. Determination of maximum concentration (Cmax)

Measure: Determination of dabigatran and its metabolites in plasma by LC/MS-MS method

Time: At Day 4 and Day 11

Secondary Outcomes

Description: Measures activated Partial Thromboplastin Time (aPTT)and measures ECarin Time (ECT),

Measure: Pharmacodynamic parameters

Time: At Day 4 and Day 11

Description: Genotyping of MDR-1 (gene for P-GP): C3435T SNP of exon 26, SNP G2677T / A of exon 21 and C1236T SNP of exon 12

Measure: Genotyping

Time: At Day 1

7 An Open Non Randomized Comparative Study Exploring Drug Interaction Between Colchicine and Calcineurin Inhibitors in 2 Groups (Ciclosporin Group and Tacrolimus Group) of Renal Graft Recipients

Ciclosporin inhibits P-glycoprotein should increase colchicine bioavailability whereas tacrolimus should not influence colchicine disposition. This is a prospective, controlled, open labeled study performed in renal graft recipients comparing colchicine single dose (1mg) pharmacokinetics in 14 patients treated with tacrolimus and 14 patients treated with cyclosporin.

NCT01160276
Conditions
  1. Renal Replacement Therapies
Interventions
  1. Drug: cyclosporine+colchicine
  2. Drug: tacrolimus

ABCB1 Haplotypes composed of 3 SNPs: C3435T, G2677T / A and C1236T.. null. --- C3435T --- --- G2677T ---

Primary Outcomes

Measure: Area under the curve of plasma concentration of colchicine over time 0-∞

Time: 4 weeks

Secondary Outcomes

Measure: Half-life of colchicine (T1/2).

Time: 4 weeks

Measure: AUC0-3h colchicine to focus the analysis on the absorption phase (argument in favor of an interaction-dependent P-gp)

Time: 4 weeks

Measure: Cmax observed colchicine.

Time: 4 weeks

Measure: Residual tacrolimus or cyclosporine concentrations

Time: 4 weeks

Measure: ABCB1 genotype at position 3435 (rs 1045642) or 3435 cc, 3435TT, heterozygotes could not be included in the tacrolimus group.

Time: 4 weeks

Measure: ABCB1 Haplotypes composed of 3 SNPs: C3435T, G2677T / A and C1236T.

Time: 4 weeks

Measure: CYP3A5 Genotype: search for the allele * 1 (rs 776746): 3 possible genotypes CYP3A5 * 3 / * 3 - CYP3A5 * 3 / * 1 - CYP3A5 * 1 / * 1.

Time: 4 weeks

Measure: GFR calculated by MDRD formula.

Time: 4 weeks

Measure: BMI

Time: 4 weeks

Measure: Drug related (azathioprine, mycophenolic acid, diuretics, ACE inhibitors, ARAII)

Time: 4 weeks

8 Use of a Simplified Nomogram and Pharmacogenetics to Individualize Digoxin Dosing in Heart Failure Patients vs. Standard Care

Dosing methods for digoxin, a drug used to treat heart failure, have not been updated in decades despite evidence in recent years suggesting that blood levels of digoxin achieved with traditional dosing practices may increase the risk of adverse events. We developed a simple dosing tool that targets lower blood levels of digoxin that have been associated with improved outcomes compared to higher blood levels. The aim of this study is to determine if this simplified dosing tool is more effective than standard digoxin dosing practices at achieving lower blood levels and also to determine if digoxin dosing may be further optimized by incorporating patients' genetic information believed to influence the drug's properties.

NCT01005602
Conditions
  1. Heart Failure
Interventions
  1. Other: Digoxin Dosing per Nomogram
  2. Drug: Digoxin
MeSH:Heart Failure
HPO:Abnormal left ventricular function Congestive heart failure Right ventricular failure

Serum Digoxin Concentration by ABCB1 SNP G2677T/A. --- G2677T ---

Primary Outcomes

Measure: Percent of Patients Achieving a Desired Steady-state Serum Digoxin Concentration Between 0.5 - 0.9ng/ml

Time: Steady-state (2 - 4 weeks after initiation)

Secondary Outcomes

Measure: Mean Serum Digoxin Concentration

Time: Steady-state (2 - 4 weeks after initiation)

Measure: Serum Digoxin Concentration < 1.0 ng/ml

Time: Steady-state (2 - 4 weeks after initiation)

Description: 55 patients in the Digoxin Dosing per Nomogram group consented to the Pharmacogenetic substudy and provided blood samples to perform pharmacogenetic analyses. We compared serum digoxin concentrations by ABCB1 genotype.

Measure: Serum Digoxin Concentration by ABCB1 Single Nucleotide Polymorphism (SNP) C1236T

Time: Steady-state (2 - 4 weeks after initiation)

Description: Serum digoxin concentration by genotypes for the ABCB1 SNP C3435T

Measure: Serum Digoxin Concentration by ABCB1 SNP C3435T

Time: Steady-state (2 - 4 weeks after initiation)

Description: Serum digoxin concentration by ABCB1 SNP genotypes

Measure: Serum Digoxin Concentration by ABCB1 SNP G2677T/A

Time: Steady-state (2 - 4 weeks after initiation)

9 Utilizing Pharmacogenetics to Predict Drug Interactions in Kidney Transplant Recipients

Solid organ transplant recipients would greatly benefit from pharmacogenetic evaluation since immunosuppressive drug regimens consist of multiple medications with narrow therapeutic ranges and toxic adverse event profiles. Tacrolimus is a potent immunosuppressive agent utilized for rejection prophylaxis. Intensive pharmacokinetic monitoring must be performed following organ transplantation to ensure therapeutic drug concentrations due to its highly variable pharmacokinetics profile and narrow therapeutic index. Tacrolimus is a substrate for CYP450 3A and for the membrane transporter p-glycoprotein (Pgp). Polymorphisms in the gene encoding for CYP3A5 have been extensively studied and have been found to influence the dosing of tacrolimus. The effect of ABCB1 gene polymorphisms (which encodes for Pgp) upon tacrolimus pharmacokinetics has been more difficult to establish. This study will determine if haplotypes derived from three frequent polymorphisms in the ABCB1 gene (C1236T, G2677T, C3435T) can predict the degree of drug interaction between tacrolimus (CYP3A5/Pgp substrate) and ketoconazole (CYP3A5/Pgp inhibitor) in patients who are CYP3A5 nonexpressors. This prospective pharmacokinetic and pharmacogenomic study will enroll 20 stable renal transplant recipients with the CYP3A5 *3/*3 genotype and grouped by ABCB1 haplotype (CGC vs TTT). Pharmacokinetics of tacrolimus will be assessed on 2 occasions with and without ketoconazole coadministration separated by 1 week. The order of study occasions will be randomized in a crossover design. The results of this study may identify a genomic marker for predicting drug-drug interactions. Knowing this information a priori will aid clinicians in modifying drug dosing and alleviate patients of the burden of significant drug toxicities.

NCT01288521
Conditions
  1. Kidney Transplantation
Interventions
  1. Drug: Tacrolimus + Ketoconazole, Then Tacrolimus alone
  2. Drug: Tacrolimus alone, Then Tacrolimus + Ketoconazole

This study will determine if haplotypes derived from three frequent polymorphisms in the ABCB1 gene (C1236T, G2677T, C3435T) can predict the degree of drug interaction between tacrolimus (CYP3A5/Pgp substrate) and ketoconazole (CYP3A5/Pgp inhibitor) in patients who are CYP3A5 nonexpressors. --- C1236T --- --- G2677T ---

Primary Outcomes

Description: Tac bioavailability alone vs. Tac bioavailability with Keto. To determine F we took the ratio of area under the curve of the oral dose divided by the area under the curve of the IV dose. F was determined by fitting a model that considered the plasma concentration of tac with IV vs. oral dosing.

Measure: Tacrolimus Bioavailability (F)

Time: baseline and 2 weeks


HPO Nodes


HP:0001635: Congestive heart failure
Genes 264
TLL1 DSP PLN SLC25A26 BSCL2 DSP NDUFB11 ACTC1 RET TRNL1 JUP CAV1 TRNK SGCD ACTC1 KCNJ5 GTF2IRD1 TRNC FXN WRN HBA2 TTN CAVIN1 VHL ATP6V1A PPA2 FGFR3 MYH7 TRNS2 EYA4 PLOD1 LMNA BMP2 KIF1B SLC2A10 NDUFB8 GNA11 CACNA1S ND1 HADHA TCF4 GAA TRNK VCL GATA6 TBL2 MYL3 PLOD1 ABCC6 GNPTAB SDHD STRADA PNPLA2 ENG LMNA CLIP2 RFC2 TAZ TPI1 COL1A2 BAG3 LIMK1 DSP GTPBP3 DES IRF5 NDUFAF1 ELN SELENON PSMB8 HJV MYD88 MYH6 AGGF1 EYA4 ATP5F1A TET2 ND6 HFE DMD MST1 MAPRE2 DLST DNMT3A TNNI3K TUBB TNNT2 EFEMP2 TRIP4 DNAJC19 XYLT1 TRNQ SDHB GDNF ADCY5 EPAS1 GDF2 PRKAG2 PSEN2 CCR6 AFF4 COL1A1 CDH23 CITED2 ENPP1 RAB3GAP2 BCHE FLNC GLA SF3B1 TRNW HADHA DES IFIH1 MECP2 TMEM70 GATAD1 ACAD9 HBB ACVRL1 HADHB MTTP RASA1 TMEM127 FGF23 NF1 PRDM16 SDHAF2 PRKAR1A FGD1 LMNA NDUFAF3 TNNI3 RBM20 VHL IKBKG VPS33A XYLT2 MYH6 SDHD TRPM4 GLB1 ALMS1 SDHD COX1 TPM1 AGPAT2 SCN5A CLIC2 SCO2 LMNA CAV1 SDHA LMNA HAMP RYR1 CASR MYH7 TRIM37 KIF1B LMNA PTEN SURF1 ACTN2 MYH7 RET LMNA ATXN7 LMNA SLC19A2 GTF2I RPS19 MYH7 TRNF STAT1 GTPBP3 PPARG TRNV TMEM127 LDB3 MAX TBX20 TRNS1 COX2 MDH2 SCO1 MYLK2 GJA1 HFE NDUFS2 GK TTN ELAC2 HNRNPA2B1 IDS TBX20 TRNE MAX NSMCE2 ACAD9 TRNK CYTB GATA4 ND5 GLA ADCY5 HBA1 HADHB SNAP29 MYH7 NKX2-5 SLC22A5 SDHC HBB CITED2 HLA-DRB1 HNRNPA1 ABCC6 SDHB SLC25A3 ALMS1 CP VCP SCN4A HBB FH FBN1 DTNA FOS PRKAR1A TF SDHB COG7 VHL TLL1 PPARG FLNA ENG PSEN1 CCN2 MYPN GPR35 BAZ1B JUP EPG5 SLC25A11 RET CLIC2 COX3 FBLN5 SLC17A5 CAV3 NKX2-5 CEP19 TMEM43 PEX7 SMAD4 PHYH CYTB SCN1B MYSM1 ADAMTSL2 PRKAR1A TRNL1