SNPMiner Trials by Shray Alag

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rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) 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rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs7903146

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 8 clinical trials

Clinical Trials


1 The Role of Newer and Traditional Risk Factors in the Development, Extent and Manifestation of Coronary Artery Disease

In the present study the investigators will measure the extent of coronary artery disease via coronary angiography and the correlating risk factors.

NCT01585948
Conditions
  1. Patients Undergoing Coronary Angiography
MeSH:Coronary Artery Disease Myocardial Ischemia Coronary Disease
HPO:Coronary artery atherosclerosis Myocardial infarction

The incidence, extent and clinical manifestation of coronary artery disease and the circulating levels of hs-CRP, adipokines and RAGEs.. To associate the incidence, extent and clinical manifestation of coronary artery disease with systemic inflammatory status assessed by hs-CRP levels, circulating adipokines (adiponectin, resistin) and the receptors of advanced glycation end products (sRAGE and esRAGE).. TCF7L2 gene polymorphims and the incidence and extent of coronary artery disease.. To associate the incidence, extent and clinical manifestation of coronary artery disease with the rs7903146 single nucleotide polymorphism of TCF7L2 gene, that has been strongly associated with diabetes mellitus development.. Inclusion Criteria: - Any subject eligible for coronary angiography with or without known CV disease for clinical reasons.

Primary Outcomes

Description: We will investigate the incidence, extent and clinical manifestation of coronary artery disease in diabetics and non-diabetics undergoing coronary angiography for clinical reasons.

Measure: The incidence and extent of coronary artery disease between diabetics and non-diabetic patients.

Time: Up to four years on average.

Secondary Outcomes

Description: To associate the incidence, extent and clinical manifestation of coronary artery disease with classic demographic risk factors (such as smoking, alcohol consumption, physical exercise, arterial hypertension, family history of diabetes mellitus or coronary artery disease) and common biochemical risk factors (such as fasting glucose levels, urea, creatinine, HbA1c%, uric acid, total cholesterol, HDL, LDL, triglycerides, VLDL, glomerular filtration rate - GFR).

Measure: The incidence and extent of coronary artery disease via coronary angiography scores and related biochemical and demographical risk factors.

Time: Up to 4 years on average.

Description: To associate the incidence, extent and clinical manifestation of coronary artery disease with systemic inflammatory status assessed by hs-CRP levels, circulating adipokines (adiponectin, resistin) and the receptors of advanced glycation end products (sRAGE and esRAGE).

Measure: The incidence, extent and clinical manifestation of coronary artery disease and the circulating levels of hs-CRP, adipokines and RAGEs.

Time: Up to 4 years on average.

Description: To associate the incidence, extent and clinical manifestation of coronary artery disease with the rs7903146 single nucleotide polymorphism of TCF7L2 gene, that has been strongly associated with diabetes mellitus development.

Measure: TCF7L2 gene polymorphims and the incidence and extent of coronary artery disease.

Time: Within a maximum period of 4 years.

2 Evaluation of the Enteroinsular Axis in Cystic Fibrosis

Cystic fibrosis related diabetes (CFRD) is associated with worse CF-relevant outcomes. The mechanisms underlying CFRD development are not fully understood, but recent evidence suggests Type 2 Diabetes Mellitus (T2DM) mechanisms may be involved and may involve incretins (gut secreted hormones that augment insulin secretion in response to a nutrient load). This study will examine the prevalence of Genome wide association study (GWAS)-implicated T2DM alleles (including TCF7L2) across the spectrum of glucose abnormalities in CF and will use this information to compare incretin and insulin secretion in non-diabetic children and adults with high risk and low risk alleles.

NCT01852448
Conditions
  1. Cystic Fibrosis
Interventions
  1. Genetic: Blood or Saliva Sample Collection
  2. Other: Glucose -potentiated arginine (GPA) stimulation tests
MeSH:Cystic Fibrosis Fibrosis

SECOND PHASE OF STUDY: Inclusion Criteria 1. Subjects age >8y 2. Diagnosis of Cystic Fibrosis 3. pancreatic insufficient 4. negative urine pregnancy test at enrollment 5. TCF7L2 rs7903146 genotype of T/T or C/C 6.

Primary Outcomes

Description: To examine the prevalence of GWAS-implicated T2DM alleles (including TCF7L2) across the spectrum of glucose abnormalities in children and adults with CF.

Measure: Blood sample for DNA to genotype TCF7L2 and about 10 other GWAS-implicated T2DM genes.

Time: 1 day

Secondary Outcomes

Description: Pancreatic ß-cell function will be evaluated using the GPA test which can be used to measure β-cell secretory capacity and sensitivity to glucose.

Measure: Glucose-Potentiated Arginine Stimulation Test (GPA test)

Time: 1 day

Other Outcomes

Description: Incretin and insulin secretion as well as glucose tolerance will be assessed using the MMTT.

Measure: Mixed Meal Tolerance Testing (MMTT)

Time: 1 day

3 Pathogenesis of Youth Onset Type 2 Diabetes and Prediabetes

Type 2 Diabetes (T2D) in obese youth is often preceded by a prediabetic state called: Impaired Glucose Tolerance (IGT), which is associated with a pre-existing defect in insulin secretion. This study intends to determine if genetic factors are associated with defects in insulin secretion, the incretin system and hepatic insulin resistance in obese adolescents. The long-term goal of this study is to generate information on both the genetics as well as the pathophysiology of Type 2 Diabetes in Youth, which ultimately might guide the investigators towards better preventive and treatment avenues.

NCT03195400
Conditions
  1. IGT - Impaired Glucose Tolerance
  2. T2D
Interventions
  1. Diagnostic Test: Oral Glucose Tolerance Test
  2. Diagnostic Test: Hyperglycemic Clamp
  3. Diagnostic Test: Isoglycemic Intravenous Glucose Test
  4. Diagnostic Test: Hyperinsulinemic Euglycemic Clamp and 2H20
MeSH:Prediabetic State Glucose Intolerance

To delineate the effects of TCF7L2 rs7903146 on functional Beta-Cell Capacity in obese adolescents with Impaired Glucose Tolerance (IGT) and pre-IGT.

Aim 2. To examine the functional effect of the rs7903146 variant in the TCF7L2 gene on a) incretin effect in obese adolescents with IGT and pre-IGT.

Aim 3. To determine the functional effects of TCF7L2 rs7903146 SNP on hepatic glucose fluxes in obese adolescents with IGT and pre-IGT.

Primary Outcomes

Description: An oral glucose tolerance test will be performed to assess glucose tolerance status to determine if subjects are pre-IGT or IGT

Measure: Glucose tolerance status

Time: Baseline

Description: DNA screening to measure whether subject is CC or TT genotype

Measure: Genotype

Time: Baseline

Description: AIRmax stimulation test during the hyperglycemic clamp to ascertain the maximal acute insulin response (AIR) to arginine, which is a measure of functional beta cell capacity.

Measure: Beta cell capacity

Time: Baseline

Description: Subjects will undergo the IsoIVGT test with GLP-1 measurements to measure the incretin effect

Measure: Incretin effect

Time: 3weeks to 1 month post Baseline testing

Description: The AIRmax stimulation test during the hyperglycemic clamp will be repeated at 2 years to determine if genotype TCF7L2 contributes to worsening in beta cell function longitudinally

Measure: Beta cell function (longitudinally)

Time: 2 years post Baseline

Description: Measurements from the Hyperinsulinemic Euglycemic Clamp/ 2H20 Study will be used to assess insulin effects on hepatic glucose production and glycerol kinetics isotopes and the deuterium enrichment at carbons 2 and 5 (C2 and C5) of plasma glucose providing information on glucose fluxes

Measure: Hepatic glucose fluxes

Time: 2 months post baseline testing

4 A Phase I Placebo-controlled Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Globalagliatin Hydrochloride After Multiple Ascending Doses in Patients With Type 2 Diabetes Mellitus

This is a phase I placebo-controlled study to assess safety, tolerability, pharmacokinetics and pharmacodynamics of Globalagliatin Hydrochloride (SY-004) after Multiple Ascending Doses in patients with Type 2 Diabetes Mellitus (T2DM).

NCT03414892
Conditions
  1. Hyperglycaemia (Diabetic)
  2. Type 2 Diabetes Mellitus
Interventions
  1. Drug: Globalagliatin Hydrochloride
  2. Drug: Placebo
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2 Hyperglycemia
HPO:Diabetes mellitus Hyperglycemia Postprandial hyperglycemia Type II diabetes mellitus

Compared with placebo, the mean changes of post-prandial blood glucose from baseline at D7,D14,D21 and D28.. genetic: TCF7L2 ( Transcription factor 7-like 2) rs7903146 and GCKR (glucokinase regulatory protein) rs780094 ).

The genetic(TCF7L2 rs7903146 and GCKR rs780094)effects on response of SY-004 in T2DM patients.. the changes of GA (Glycated albumin) from baseline.

Primary Outcomes

Description: Compared with placebo, the mean change in glucose AUC from baseline at D28.

Measure: the mean change in glucose area under curve (AUC) from baseline.

Time: 28 days

Secondary Outcomes

Description: Compared with placebo, the fasting plasma glucose from baseline at D7,D14,D21 and D28.

Measure: the fasting plasma glucose from baseline

Time: 7, 14, 21, 28 days

Description: Compared with placebo, the changes of MMTT (mixed-meal tolerance test) results from baseline at D28

Measure: the changes of MMTT (mixed-meal tolerance test) results from baseline

Time: 28 days

Description: Compared with placebo, the mean changes of average 7-points blood glucose profiles from baseline at D7,D14,D21 and D28.

Measure: the mean changes of average 7-points blood glucose profiles from baseline

Time: 7, 14, 21, 28 days

Description: Compared with placebo, the mean changes of average 14-points blood glucose profiles from baseline at D7,D14,D21 and D28.

Measure: the mean changes of average 14-points blood glucose profiles from baseline

Time: 7, 14, 21, 28 days

Description: Compared with placebo, the mean changes of post-prandial blood glucose from baseline at D7,D14,D21 and D28.

Measure: the mean changes of post-prandial blood glucose from baseline

Time: 7, 14, 21, 28 days

Other Outcomes

Description: The genetic(TCF7L2 rs7903146 and GCKR rs780094)effects on response of SY-004 in T2DM patients.

Measure: genetic: TCF7L2 ( Transcription factor 7-like 2) rs7903146 and GCKR (glucokinase regulatory protein) rs780094 )

Time: 28 days

Description: Compared with placebo, the changes of GA (Glycated albumin) from baseline at D28.

Measure: the changes of GA (Glycated albumin) from baseline

Time: 28 days

5 The TCF7L2 Gene: Nutrigenomics and Dietary Prevention of Type 2 Diabetes

Nutrients and chemicals in food are able to regulate expression of genetic elements. Gene-nutrient interaction in response specific diets can increase an individual's risk, shifting the individual from health toward the development of chronic disease. The Transcription Factor 7 Like 2 (TCF7L2) gene may either put individuals at risk for or protect from Type 2 diabetes mellitus in the presence of certain foods. The main purpose of this four-week study is to examine diet-induced gene-nutrient interaction, with a focus on glucose, insulin, inflammation (CRP) and the plasma metabolome in individuals who have either the CC or the TT form of the rs7903146 single nucleotide polymorphism (SNP) (C/T) within the TCF7L2 gene. The (2) one-week study diets, one Mediterranean diet (MedDiet) based and the other low-fat based will be separated by a (1) week return to a regular habitual diet.

NCT03458494
Conditions
  1. Type2 Diabetes
  2. Glucose, High Blood
Interventions
  1. Other: Mediterranean Diet
  2. Other: Low-fat diet
MeSH:Diabetes Mellitus, Type 2 Hyperglycemia
HPO:Hyperglycemia Postprandial hyperglycemia Type II diabetes mellitus

The main purpose of this four-week study is to examine diet-induced gene-nutrient interaction, with a focus on glucose, insulin, inflammation (CRP) and the plasma metabolome in individuals who have either the CC or the TT form of the rs7903146 single nucleotide polymorphism (SNP) (C/T) within the TCF7L2 gene.

Plasma glucose levels (mg/dl) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

Fasting plasma insulin levels (pmol/l) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

The response of plasma metabolites to the Mediterranean and low-fat diets diet) will be measured using ultra high-performance liquid chromatography/tandem accurate mass spectrometry (UHPLC/MS/MS) during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

Fasting plasma concentrations of VLDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

Fasting plasma concentrations of LDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

Fasting plasma concentrations of HDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

Plasma C-reactive protein (mg/dl) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP.

The rs7903146 single nucleotide polymorphism (SNP) (C/T) within the TCF7L2 gene is the most replicated T2D-associated SNP.

For this purpose, a four-week study will be conducted to examine diet-induced gene-nutrient interaction, with a focus on glucose, insulin, and inflammation (CRP) in individuals who have either the CC or the TT form of the rs7903146 single nucleotide polymorphism (SNP) (C/T) within the TCF7L2 gene.

Primary Outcomes

Description: Plasma glucose levels (mg/dl) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: Glucose

Time: 1 week per intervention arm

Secondary Outcomes

Description: Fasting plasma insulin levels (pmol/l) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: Insulin

Time: 1 week per intervention arm

Description: The response of plasma metabolites to the Mediterranean and low-fat diets diet) will be measured using ultra high-performance liquid chromatography/tandem accurate mass spectrometry (UHPLC/MS/MS) during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: Metabolomics

Time: 1 week per intervention arm

Description: Fasting plasma concentrations of VLDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: Very low density lipoproteins (VLDL)

Time: 1 week per intervention arm

Description: Fasting plasma concentrations of LDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: Low-density lipoproteins (LDL)

Time: 1 week per intervention arm

Description: Fasting plasma concentrations of HDL in mg/dl, assessed by proton nuclear magnetic resonance (NMR) spectroscopy will be measured during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: High-density lipoproteins (HDL)

Time: 1 week per intervention arm

Description: Plasma C-reactive protein (mg/dl) will be measured in the fasting state during each one of the intervention phases (the Mediterranean and low-fat diets) in participants with the TT and CC genotypes at the TCF7L2 rs7903146 SNP

Measure: CRP

Time: 1 week per intervention arm

6 Transcription Factor 7 Like 2 Gene Polymorphism and Advanced Glycation End Products as Risk Factors for Diabetic Nephropathy

1. To study genotypic distribution of the TCF7L2 gene polymorphism in Diabetic nephropathy. 2. To assess level of AGEs and Insulin in patients with Diabetic nephropathy. 3. To study correlation between polymorphism of the TCF7L2 gene, AGEs, Insulin and clinical characteristics in patients with diabetic nephropathy

NCT04084886
Conditions
  1. Diabetic Nephropathies
MeSH:Kidney Diseases Diabetic Nephropathies
HPO:Abnormality of the kidney Nephropathy

TCF7L2 rs7903146 polymorphism is more associated with T2DM which mediated by decreased insulin secretion associated with defects in insulin processing, reduced effects of glucagon-like peptide-1, increased hepatic glucose production and insulin resistance.

Primary Outcomes

Description: find a link between genetic polymorphism of TCF7L2 and the risk of developing nephropathy in diabetic patients. Nephropathy is defined Albumin/creatinine ratio > 30 mg/gm creat.

Measure: value of the odds ratio associated with the relationship between a polymorphism TCF7L2 gene and the occurrence of diabetic nephropathy

Time: one year

Description: the prevalence of TCF7L2, in the diabetic patient, and compared to the values found in the general population. the TCF7L2 genes will be evaluated by PCR-RFLP

Measure: Number of patients with genotype TCF7L2 by PCR

Time: 5 years

7 Effects of an Exercise Program on Physical Functionality and Frailty in Type 2 Diabetic Older Adults. Role of Circulating Concentration of PDEF and Differential Genes

Diabetes is a disease with a high impact in the population older than 65 years old. Some indications suggest that diabetes in the old age aggravate the negative effects of ageing, as the loss of muscle mass and strength, bringing the patients to a situation of vulnerability and elevated risk of disability and death known as "frailty syndrome". Recently, scientists have observed that if older population train with musculation machines emphasising the muscular power, it is possible to have an impact on a disminution of frailty and restoring the physical functionality. This project deeps in the physiological and molecular mechanisms that underlie to improvements in the frail diabetic patients.

NCT04332302
Conditions
  1. Diabetes Mellitus, Type 2
  2. Frailty
Interventions
  1. Other: Power resistance training
MeSH:Diabetes Mellitus, Type 2 Frailty
HPO:Type II diabetes mellitus

Circulating level of PDEF assessed by Western Blot.. Genotyping of TCF7L2 (rs7903146).

Primary Outcomes

Description: Percentage

Measure: Change from Baseline Glycosylated Hemoglobin (Hemoglobin A1c) at 12 weeks

Time: 0 and 12 weeks.

Description: Percentage

Measure: Change from Baseline Homeostasis Model Assessment - Beta cells (HOMA2-B) at 12 weeks

Time: 0 and 12 weeks.

Description: Percentage

Measure: Change from Baseline Homeostasis Model Assessment - Insuline Resistance (HOMA2-IR) at 12 weeks

Time: 0 and 12 weeks.

Description: Level of frailty assessed by Fried Criteria. Intermediate or prefrail: 1 or 2 criteria present. Positive for frailty phenotype: ≥3 criteria present.

Measure: Change from Baseline Fried frailty score at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Level of functional capacity assessed by the test SPPB. Scores 0-3: Very low physical function; Scores 4-6: Low physical function; Scores 7-9: Moderate physical function; Scores 10-12: High physical function

Measure: Change from Baseline Functional capacity at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Level of disability assessed by the Barthel test. A participant scoring 0 points would be dependent in all assessed activities of daily living, whereas a score of 100 would reflect independence in these activities.

Measure: Change from Baseline Disability at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Level of functional mobility assessed by the Lawton test. A scale from 0 to 8, expressing higher scores better levels of independence.

Measure: Functional mobility at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Watts.

Measure: Change from Baseline Muscular power at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Load (kg).

Measure: Change from Baseline Levels of strength at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: g/cm3

Measure: Change from Baseline Bone Mineral Density at 12 weeks

Time: 0 and 12 weeks.

Description: Circulating level of PDEF assessed by Western Blot.

Measure: Change from Baseline Pigment Epitelium Derived Factor (PEDF) at 12 weeks

Time: 0 and 12 weeks.

Description: Assessed by Real-time PCR.

Measure: Genotyping of TCF7L2 (rs7903146)

Time: 0 week.

Description: Assessed by Real-time PCR.

Measure: Genotyping of TM6SF2 (rs10401969)

Time: 0 week.

Description: Assessed by Real-time PCR.

Measure: Genotyping of HLA (rs2854275)

Time: 0 week.

Secondary Outcomes

Description: Kg by square meters.

Measure: Change from Baseline Body Mass Index at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: Meters.

Measure: Change from Baseline Waist circumference at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: mmHg.

Measure: Change from Baseline Blood pressure (systolic and diastolic) at 6 and 12 weeks

Time: 0, 6 and 12 weeks.

Description: mg/dL.

Measure: Change from Baseline Concentration of Triglycerides at 12 weeks

Time: 0 and 12 weeks.

Description: mg/dL.

Measure: Change from Baseline Concentration of Total Cholesterol at 12 weeks

Time: 0 and 12 weeks.

Description: mg/dL.

Measure: Change from Baseline Concentration of HDL Cholesterol at 12 weeks

Time: 0 and 12 weeks.

Description: mg/dL.

Measure: Change from Baseline Concentration of LDL Cholesterol at 12 weeks

Time: 0 and 12 weeks.

Description: Level of quality of life assessed by the test EuroQoL index, EQ-5D-5L. The score is the time trade-off (TTO). Scale from 11111 to 55555 being the higher the best health related quality of life.

Measure: Change from Baseline Subjective level of quality of life at 12 weeks

Time: 0 and 12 weeks.

Description: Accelerometry, counts/min.

Measure: Change from Baseline Physical activity at 12 weeks

Time: 0 and 12 weeks.

Description: Level of balance assessed in a force platform. Newtons.

Measure: Change from Baseline Balance at 12 weeks

Time: 0 and 12 weeks.

8 The Association Between TCF7L2 rs7903146, Diet and Type 2 Diabetes Mellitus Risk

This study investigates the association of genetic effects of rs7903146 and dietary intake on type 2 Diabetes Mellitus (T2DM) risk in a healthy population. T2DM risk was assessed through glycated haemoglobin (HbA1c) concentration in 73 subjects. Dietary intake was assessed using a validated food frequency questionnaire (FFQ).

NCT04446754
Conditions
  1. Health Behavior
  2. Blood Glucose, High
  3. Diet Habit
  4. Genetic Predisposition
MeSH:Diabetes Mellitus Diabetes Mellitus, Type 2 Hyperglycemia Disease Susceptibility Genetic Predisposition to Disease
HPO:Diabetes mellitus Hyperglycemia Postprandial hyperglycemia Type II diabetes mellitus

The Association Between TCF7L2 rs7903146, Diet and Type 2 Diabetes Mellitus Risk.

The Genetic Effects of rs7903146 and Dietary Intake on Type 2 Diabetes Mellitus Risk in a Healthy Population This study investigates the association of genetic effects of rs7903146 and dietary intake on type 2 Diabetes Mellitus (T2DM) risk in a healthy population.

salivary (1-ml) DNA for genotype TCF7L2 gene (rs7903146 SNP).

Genome-wide association studies identify the transcription factor 7-like 2 (TCF7L2) rs7903146 (C/T) gene as one of the most important associated with T2DM-risk.

However, most studies associating genetic effects of dietary intake on rs7903146 and T2DM-risk utilised volatile instantaneous measures of glucose(5) and focussed on individual macronutrients.

Understanding the association of rs7903146 and overall macronutrient intake using a stable blood homeostasis marker may provide a fuller insight into T2DM-risk.

Primary Outcomes

Description: salivary (1-ml) DNA for genotype TCF7L2 gene (rs7903146 SNP)

Measure: DNA

Time: 3 months

Description: capillary blood collected (via the ears or fingers) using a Microvette CB Lithium Heparin tube (SARSTEDT AG & C0., Nümbrecht, Germany)

Measure: Hba1c

Time: 3 months

Description: Dietary intake estimated using The European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk (food frequency questionnaire)

Measure: Diet intake

Time: 3 months

Secondary Outcomes

Description: Body weight in kg measured by bioelectrical impedance analysis using a 0.5kg clothing offset

Measure: Body weight

Time: 3 months

Description: Waist measurement was taken midway between iliac crest and lowest rib

Measure: Waist

Time: 3 months

Description: Hip circumference was measured over the greater trochanters at their widest point (nearest 0.1cm)

Measure: Hip

Time: 3 months

Description: Subject height was recorded to the nearest 0.1-cm via stadiometer

Measure: Height

Time: 3 months

Description: Assessed through Physical Activity Readiness Questionnaire (PAR-Q)

Measure: Physical activity

Time: 3 months

Description: Measured in kg and percentage (%) measured by bioelectrical impedance analysis

Measure: Fat mass

Time: 3 months

Description: Measured in kg and percentage (%) measured by bioelectrical impedance analysis

Measure: Lean mass

Time: 3 months


HPO Nodes


HP:0000819: Diabetes mellitus
Genes 547
VANGL2 NR2E3 WFS1 GLIS3 FOXH1 PROK2 TRNL1 NDUFS6 PPARG PEX1 FBN1 LMNB2 LIMK1 PRPF4 RP2 CFTR PAX4 PPARG CTNNB1 HBB COL2A1 POC1A KCTD1 LIG4 PDE6B TOPORS ARL2BP ABCC8 SLC30A8 KCNJ11 MLXIPL CDON WRN PRKAR1A PROM1 TRNE NEUROD1 CNBP KCNJ11 MMP14 C8ORF37 APOE SLC16A2 CTRC ZBTB20 BBS2 WFS1 BLK WFS1 KRAS COX3 CYTB ZFYVE26 FGF8 SOX2 XRCC4 CDH23 ELN CEL GPR35 SLC29A3 FOXC2 EIF2AK3 PTF1A TCF7L2 HNF1A ARMC5 MKKS PDE6A PDX1 COX2 PSTPIP1 EIF2AK3 GTF2I NEUROD1 CNOT1 ATP6 USH2A ITPR3 LMNA NDUFA1 NDUFA11 CAVIN1 PCARE HLA-DRB1 CAT TCF4 AIP GCK PLCD1 HNF4A HERC2 PDX1 OTX2 HJV TRNH IL6 PWAR1 PAX4 TKT RPE65 REEP6 HNF4A RLBP1 SIX3 CFTR IGF2BP2 HNF1A POMGNT1 ND1 SAG GCK BLK GPD2 RAC1 AKT2 SEMA4A WRAP53 MOG CP ARL6 AIP ALMS1 SBDS NPAP1 CDHR1 ITCH BLM HNF1B NSMCE2 ARNT2 TWNK PDX1 PDX1 DLL1 ROM1 NDUFAF3 SNORD116-1 PDE11A NDUFS4 FOXP3 WRN ZMPSTE24 UBR1 ZNF513 INSR IARS1 SLC19A2 RP1 GJA1 TRNS2 TRNS1 PRKACA PCNT FLT1 NOTCH3 TULP1 LMNA MC4R PRKACA PNPLA6 CAV1 IFIH1 NOP10 NEUROD1 MEN1 PLAGL1 ND3 TRNK ZFP57 BRCA2 SPATA7 OPA1 VANGL1 DMXL2 NODAL GJB4 EDA2R HBB CA4 MKRN3 SNORD115-1 FXN GATA6 WFS1 RP9 ND4 TMEM126B NDP BRCA1 SLC19A2 ND5 HMGA1 NDUFAF1 MERTK RETN PRPF6 HLA-DQB1 SPINK1 CP COX1 HNF4A RPGR ND6 MST1 GUCA1B NDUFA6 EDA HNF1A RNASEH2C ALMS1 TIMMDC1 HFE CIDEC DNAJC3 INS KIAA1549 IRS1 LMNA PROKR2 GCK PRKAR1A HNF1B LEPR POLR3A HYMAI SNRNP200 LIPE HYMAI CNGB1 CLRN1 ZIC2 APOA5 GAS1 EFL1 PIK3R1 TTC8 SARS2 HNF1A GJA1 PTF1A RNASEH2B TRNF NEUROG3 LRP6 TDGF1 NDUFB11 HESX1 NDN FOXP3 HNF1B ABCC8 ND2 TGIF1 PRPH2 DNM1L PRSS2 BBS2 INS NUBPL LIPE SAMHD1 DISP1 DHDDS LEMD3 DKC1 MKRN3-AS1 KLF11 IDH3B TRNL1 GLI2 FUZ SMPD4 COX1 PLIN1 SLC25A4 CNGA1 LHX1 SNRPN INS AGPAT2 GNAS SUFU DNAJC21 FOS SPINK1 CAV1 ARL3 HFE TUB TRNK KLF11 AKT2 NDUFB3 PPP1R3A NEK2 STAT1 PRPF3 RDH12 USP8 IFT172 BSCL2 ABCC8 HAMP PDE8B NDUFV1 PNPLA2 CYP19A1 LMNA ARHGEF18 MMP2 ABCA4 LRAT NDUFS7 INS TRNL1 LMNA ABCC8 PAX4 PRSS1 CLIP2 BEST1 SCAPER PIK3R1 ZNF408 SIM1 KCNJ11 PTRH2 FXN TRMT10A CASR BAZ1B ATM CPA1 NDUFS2 BRAF ADAR ZFP57 APPL1 TRNQ TRNQ RRM2B DNAJC3 STOX1 RFC2 PRCD DHX38 HNF1B IRS2 SMAD4 HNF1A ND1 KCNJ11 SLC7A14 PDE4D CDKN2A IL18BP PTRH2 NDUFS3 TRNF NDUFAF2 FAM161A VANGL2 FGFR1 CISD2 ABCC8 LEP XRCC4 TTPA NHP2 NKX2-5 AMACR MAGEL2 KDSR POLD1 KIZ INS CORIN NDUFS8 DCAF17 NDUFAF4 FOXRED1 PEX6 COX3 PRSS2 MTNR1B BMP2 PEX10 PARN PAX4 NDUFB10 ND1 INSR PRSS1 TP53 NPM1 MAGEL2 HBB POLG2 SOX3 SLC12A3 AIRE UBR1 GCK IL2RA TRNW WFS1 IMPG2 TRNS2 PTCH1 LEPR KCNJ11 IL2RA CLCNKB ATM STAT3 AGBL5 CARS1 HMGA2 COX2 MAFA TTC7A TWNK GJB3 LMNA AHR PLAGL1 PALLD NDUFS1 CRX CRB1 GATA6 GLRX5 ENPP1 CEL HNF4A CTC1 TRNV RNASEH2A HYMAI NDUFV2 IMPDH1 APPL1 BBS1 PALB2 GTF2IRD1 EIF2S3 SHH AEBP1 SLC2A2 PRPF31 MTHFR KLHL7 NDUFAF8 TERC PDX1 GCK TP53 AGPAT2 CCDC28B SLC29A3 ABCC8 PLIN1 GATA3 NRL PDE6G RBP3 PDX1 DCAF17 IPW NDUFAF5 MTHFR XRCC4 CTNS GCK FGFR1 STUB1 HNF1A BLM ELMO2 STAT3 HGSNAT KCNJ11 CERKL TRNW RTEL1 TRNC CTRC KCNJ11 RHO IDH3A RP1L1 TREX1 ITCH PNPLA2 PWRN1 CNOT1 FOXP1 ND6 EYS SRP54 TINF2 INSR IFT88 POLG ARL6 AHI1 ELN PTPN22 CEP19 PRPF8 POLA1 MAPK8IP1 MAK ND5 TERT LIPC BSCL2 AR CISD2 KCNJ11 OFD1 USB1 TBL2 RGR ERGIC1 FSCN2 NDUFB9 IER3IP1 INS DMPK PTPN1 NSMCE2 GPR101 HNF4A PPARG IFT140 PPARG PDE4D GCK TRNS1 SPINK1 PPP1R15B ABCC8 STAT1 IGF1R TRNE
HP:0000077: Abnormality of the kidney
Genes 1793
SMARCA4 H19 RPS19 WT1 ND4 MMUT EDNRB NDUFS6 LPIN2 PGM3 FXYD2 FANCB PGAM2 NTRK1 KCTD1 GP1BB HS6ST1 FANCC RET SEC61A1 SLC6A20 SEC24C PAH NELFA CHN1 APOE PEX11B BLK FGF20 ABCG8 CCDC141 HGD FBXL4 TRIP13 PTH1R SOX10 FEZF1 KCNH1 RNU4ATAC TTC21B CDH23 MCC FOXC2 NF1 EIF2AK3 C1QB RAD51 ERCC4 NPHP1 NSD1 TSC2 SPINK5 FANCL NDUFA1 STX3 EVC RET CFTR PPP2R1A PLCD1 APRT XYLT2 SDHB NEK1 FLNB COQ2 TMEM67 BRAF FBLN5 LZTFL1 ACP5 PAX7 MAP2K1 PUF60 COL4A5 TP63 SEMA3E RASGRP1 TKT SIX1 TTR H19 SPOP DNAJC21 LETM1 COL4A1 WDPCP SFTPC ACTG2 FAM149B1 PEX19 ADCY10 BBS12 GLI3 RPL26 HNF4A RERE NEK8 EYA1 KLLN FANCM WT1 FOXP3 MEFV MYCN UBR1 OSGEP IARS1 PDGFRL FAM20A FLT1 INVS TMEM231 SLC3A1 CPLANE1 HIC1 IFNG SURF1 HLA-DRB1 JAG1 TACO1 ZFP57 VANGL1 GBE1 SALL4 FANCG RAD51C KCNJ10 ATN1 MKS1 DNAJB11 ND5 RPS19 CASK DYNC2H1 H19-ICR F8 C1QC ATP6V0A4 ETFA MUC1 MITF ALG8 INSL3 MST1 PRDX1 TOR1A ADGRG2 TRNV PDGFRB RAB23 HPSE2 FAT4 NDUFA6 CIT PRODH WT1 ALDH18A1 PIGQ RAF1 NPHP4 STAT2 SKIV2L SON KCNJ5 HAAO BUB1B TRIP11 ERAP1 ADAMTSL1 SMC1A ZNF148 NPHS2 TMEM231 ARX PRTN3 PIGN TRNF PKHD1 TDGF1 NDUFB11 B4GAT1 VIPAS39 DYRK1A FLCN CYP24A1 ANKS6 TMEM231 ACE CTH PIGQ TSR2 IL12A CDKN1A IRF5 ERBB3 ROR2 RIPK4 FANCB ZEB2 BBIP1 NUP107 LDLRAP1 PRKCD NCAPD3 PEX7 HSD17B4 BUB3 VPS33B CASR WDR35 LIG4 GNAS PAX2 SDCCAG8 GNA11 FAN1 TMEM127 HPSE2 DYNC2H1 TREX1 LCAT MET COA3 WT1 CD96 SDHAF2 WT1 STAT1 TNXB TMEM237 BBIP1 GATM PTPRJ HPRT1 CHD7 LMNA GBA SDR9C7 PQBP1 NDUFS7 TRNL1 CIT SLC5A2 ABCC6 SLC9A3R1 OFD1 IQCB1 SETD5 GDF2 PLG AGXT TP53 LAMC2 MAGI2 BICC1 MMUT TRAF3IP2 GP9 CEP290 FANCD2 PYGL PIK3R2 APPL1 HOXA13 PPM1B PIGV TRNQ TRIM32 RFC2 ALG1 HPS1 SPECC1L PMM2 SERPINA1 WAS SOX9 WT1 TRNS1 APOL1 SEMA3E IL17F HOGA1 SHANK3 SLC35A2 DDX59 TMEM260 NUP160 PYCR2 TAPT1 DSTYK TMEM127 APC SLC7A7 INS CC2D2A FREM2 FAM20C CENPF BUB1 CEP83 DKC1 NDUFAF4 NFIA PGK1 RAD54B AFF4 VHL CLDN10 SRC SLC25A11 RARA PAFAH1B1 MEFV ND1 ITGA8 GLMN MYD88 PTEN FGF10 TP53 SMAD4 WDR19 TMEM216 CEP290 GATA4 WAC AIRE ITGA6 STRA6 NDUFB8 PLCE1 FGFR2 FGF17 FANCC WFS1 IFIH1 COA8 DHCR7 PTCH1 CDC73 LAMB2 CLCNKB ZNF423 RNF139 H19-ICR PROK2 CLCNKB RPL27 CC2D2A SCNN1B AVPR2 COX10 MGME1 GPC3 NDUFS1 WASHC5 MDM2 ACTN4 ABCC6 CRTAP DYNC2LI1 MKS1 PRKCSH SHH MEFV REN DEAF1 NDUFAF8 PIGL XYLT1 PEX12 PTPN11 SLC4A4 ITGA2B DLST FOXF1 GRIP1 PIGW PHEX CRB2 COQ6 GDNF EYA1 LIPT2 PROKR2 APC2 ARHGDIA CTNS TCTN3 SMARCC2 PPOX F10 PKHD1 ODC1 TPRKB WDR19 RAB3GAP1 KCNJ11 RPS26 TRNW STRADA RPL18 CDK5RAP2 PRKAR1A ZNF687 WDR4 EHMT1 RPGRIP1L TRNK SLC30A9 INPP5E UMOD SDHB TMEM67 SF3B4 INSR MEOX1 VAMP7 CEP290 FAT4 PTPN22 ARL6 SLC34A1 BCS1L SRY EPAS1 KCNQ1OT1 PHYH SDHB CISD2 TRIM28 PAX2 HPRT1 GCM2 LIG4 COL3A1 ABCG5 ALDOB NXN GP1BB ENG CENPJ IQCB1 MINPP1 CASP10 PTPN22 LMOD1 TRNT GLIS3 POGZ F8 CA2 FOXH1 TRNL1 PIGP NOTCH2 SDCCAG8 ALX4 PLD1 GSN ENPP1 RNU4ATAC SMARCB1 SF3B4 STXBP1 BCOR VHL GREB1L KCNJ11 MLXIPL SLC37A4 RAB18 AGXT MAPKBP1 RYR1 NPHP3 GNB1 DPF2 TP63 CEP135 HNF1B HPRT1 PEX13 GPC3 RPGRIP1L WDR19 JAM3 PRPS1 CEL TCTN3 SIX5 NPHP3 TP53RK IL17RA UFD1 CHEK2 FREM2 AAGAB MKKS TGM1 TSC1 EIF2AK3 APC AKT1 YY1AP1 ARID1A CACNA1S ITPR3 NDUFA11 RAD21 G6PC RORA MAFB SDHC PTCH1 ALG8 HNF4A TBX1 PREPL TMEM67 INPP5E CCBE1 ARL6 FIP1L1 DNA2 PBX1 NPHP1 SOX9 NPHP3 PIK3C2A SCO1 SPECC1L TTC37 TMEM216 APC PIK3CD BRAF SDCCAG8 DHDDS KIF14 FANCE FCGR2A TAF13 RAD21 LMNB2 GPC4 CEP164 ARL6 SERPINH1 CPT1A MARS1 ALMS1 INVS FANCI PEX26 FLRT3 SMARCAL1 NPHP1 SMARCE1 CHST14 WRN SRCAP LRIG2 GP1BA TRNS2 FGFR3 DNASE1 SDHB NIPBL RPGRIP1L SLC22A12 TMEM107 TMEM138 ZAP70 ND3 GNAS ALOX12B ND1 CILK1 NOD2 ZEB2 B9D1 NODAL RRM2B USP9X CLDN16 MYOD1 CSPP1 MAFB FIBP PEX3 WNT4 COX6B1 ETFDH OCRL UBAC2 COX1 HNF4A RAI1 TMCO1 BUB1B MAGED2 CRB2 PEX1 NPHP4 MMACHC RERE ALMS1 AQP2 HDAC8 TRAF3IP1 TBC1D8B PUF60 CASR ARID1B OCLN HELLPAR THBD SNAI2 CSPP1 CCBE1 MCM5 PIK3CA BBS5 IRAK1 CPLANE1 ARX POU6F2 POLR3A FGFR2 SEC23B RET TFE3 MKKS HYMAI SHH SARS2 CD151 SDHD ABCC8 CSPP1 KNSTRN TMEM216 SDCCAG8 BRAF SLC7A9 RPL11 KIF14 KMT2D SLC3A1 IGF2 NUP85 CASR PLA2G2A MLH3 GPC4 HLA-DPA1 CHD7 RPGRIP1 PEX16 PTPN22 CLPB PIGN ND3 DCLRE1C PEX1 CFH TRNN SUFU NPHS1 FOXF1 KLRC4 CCND1 COG7 IFT80 TSC1 BSND USP9X TRNK SMC1A MEN1 ADCY10 ESCO2 ZFPM2 AP2S1 JAK1 PRCC HMBS ADA2 SLC4A1 RSPO2 C4A GANAB WT1 CLCNKB PPP1R15B FGF8 CTNS WASHC5 CTU2 BSCL2 STAT4 SETD2 XDH AMER1 IFT172 TMEM216 KIAA0753 ZNF423 ARVCF AKT3 ATRX BAP1 ALDOB PGAP2 C8ORF37 RECQL4 MSH2 MKS1 EHMT1 KLHL7 FH RECQL4 MYH9 CFH NDUFS2 CD2AP FGFR2 CEP120 CDKN2A OFD1 AGGF1 FLNB ANOS1 PHGDH HRAS MRPS22 FGFR1 DMXL2 MOCOS TALDO1 IL17RC TRIM28 TCTN2 NSMF KDM6A TRIM8 CEP63 BAX WDR62 MAP2K2 MKKS CPT2 MCFD2 CAV1 BRF1 SNRPB IL10 COX3 OFD1 PAX4 TRIP13 MCTP2 CLCNKA PIK3C2A COX8A SLC34A3 EP300 DGKE SCNN1B PIK3CA KCNE5 PLVAP PDE6D CEP152 ITGB3 SRP54 SOX11 MAP3K7 COL4A4 ERCC6 IL17RD SLITRK6 FGA USP8 REN CC2D2A WT1 WDR35 CHRM3 POLE SDHC GREB1L NPHP3 WIPF1 GNA11 SF3B4 F2 HNF4A FAS DYNC2I1 LRP4 PDE6D OSGEP BBS1 HNRNPU GTF2IRD1 NEUROD2 CFI GPC4 LAGE3 LAMB2 LPIN1 SOX9 APOA1 MAX PDX1 MYLK EP300 TP53RK ADAT3 SMC3 STAG1 STAT4 SLC29A3 FOXE1 ITGB4 FGFR2 CLCN5 GATA3 ESCO2 MYH11 SLC34A1 ATP1A1 KDM6A RPGRIP1L MAD2L2 SPRY4 RPGRIP1L RFWD3 FANCE KRAS CCND1 TLR4 ERCC8 CD81 PEX19 PORCN PREPL DICER1 FANCA SCN1B ANTXR1 BRCA2 COL4A3 TBX1 BBS4 CHRNA3 C4A TREX1 KIAA0753 CAMKMT DCHS1 ANLN KANSL1 MMP1 CHD7 ELN TSC2 SETBP1 WT1 PEX10 MMUT FLNA SLC17A5 NEK8 LMX1B PNKP CFI ELP1 ALG9 TMEM237 TBL2 STK11 SLC7A7 CDKN2B WT1 RET NUP133 PEX5 PCK1 NIPAL4 RPS28 CASP10 AKT1 PRDM16 ASPM IFT27 ITGA3 NBN GCK CDKN1C TRNE SLC25A22 DCC COL7A1 WNT5A SHANK3 CFHR5 LIMK1 BBS10 FAM20A SASS6 SRY SLC34A1 PIGO FANCI LEMD3 CLEC7A SALL1 NOTCH2 NSD2 ZIC3 DYNC2LI1 BMP4 YAP1 NLRP3 NPHP3 CLDN19 OGG1 PIGA HLA-DPB1 ATP6V1B1 KCTD1 DMRT3 TRAF3IP1 PIEZO2 CTNNB1 VHL GANAB KLLN ITGA8 OCRL GPR35 TMEM67 LRP2 STAT5B NLRP3 ROBO2 HPRT1 MSH3 HYLS1 NEUROD1 BMPER MED25 FLCN SMS CTLA4 STS MDM2 TCF4 LIPN THOC6 PET100 PDX1 CACNA1D WDR73 EPG5 ERCC4 TREX1 BCOR KCNJ1 TRNH KIF1B IL6 PTPN22 DNMT3A CDC73 RFWD3 KANK2 RPL15 FGFR1 WDR19 BICC1 HNF1A EFEMP2 TTC8 ADA2 RPS15A HESX1 KMT2A STRA6 NR0B1 TMEM70 RBM10 PEX1 GATA3 WNT3 PYGM ARID2 TBX15 NR5A1 VHL BLM RPS27 FASLG CFHR3 COX14 PPP2R3C KIF7 AQP2 NPHP1 CYTB DDX6 COQ2 HBB ZIC3 POU3F4 MSH6 SCARB2 FLNA PPP3CA SLX4 LARGE1 HABP2 CLCN5 WDR73 PHF21A ITGB3 MDH2 NIPBL ITGA2 BBS2 PALB2 CFB KRT17 WDR11 MTRR PEX2 PGM3 IL7R STXBP1 ARL6IP6 FLI1 NF1 SON DSTYK CYP4F22 CHD7 HLA-B NARS2 BRCA2 APOE PAX6 RBM8A TIMMDC1 BCS1L GRIA3 TTC37 DICER1 SC5D OFD1 TMEM231 PALB2 NRAS SDHD SIX5 APOB TFAP2A HNF1B FREM1 PEX6 AGT SOX18 REST ANKLE2 SC5D TBX22 PRMT7 ZIC2 KCNJ10 TCTN3 GPC3 DVL1 B9D2 KCNQ1 NDUFAF3 HMGA2 CFHR1 SLC4A1 PDSS2 PIK3R2 BBS10 FOXP3 KYNU HNF1B FN1 PCSK9 FGFR2 SOX10 FANCB DMP1 KIF14 ENPP1 OSTM1 AKT1 KEAP1 PHC1 INS UMPS OCRL RPL26 DISP1 CDKN1C LEMD3 YWHAE CYP11B2 LRP4 NSUN2 TRRAP COLEC10 ATP7B CHST14 IL23R PTPN12 CHRM3 DHODH DHCR7 ZMIZ1 CHD4 RBM10 DPH1 LYZ KCNJ10 CWC27 OPLAH MASP1 MYCN KRAS PHYH CDC42 TMEM216 DNASE1L3 TASP1 CYP27A1 DACT1 IFT122 NDUFB3 HOXD13 RPL5 ROR2 COL4A1 USP8 RTTN MED25 PEX10 CCND2 MVK IFT27 SULT2B1 RREB1 CEP57 B9D2 CFI RAD51C COQ8B DLL4 ZNF592 PKDCC TBX1 CEP164 PIGT GEMIN4 DYNC2I2 PIK3CA KIAA0586 PTEN AMMECR1 COX20 DPH1 PEX3 FLNA GCDH RAI1 RMND1 PIK3CA MCPH1 HRAS AFF4 PTPN11 IGF2 KAT6B HNF1B IFT172 ND1 NDUFAF6 SCN2A RPS7 NDUFS3 PIGL SPP1 PLCD1 NSDHL NDUFAF2 WDPCP KAT6B TMEM67 CPT2 GLI3 FGFR1 BRIP1 CDKN1B NUP133 PRKCD POMT1 PIK3CA AHI1 PORCN FLNA CD46 FAH RAI1 TMEM67 BCOR NEU1 CYB561 CEP55 NADSYN1 NAA10 ATRX GDF6 MAX SLC12A3 CPT1A ADA C1QA UBR1 PIGN GDF6 IKZF1 UBE2T GALNT3 TSC2 CAD KYNU HMGA2 TTC21B DHX16 LTBP4 COL4A3 INF2 SKI STAT3 NRAS KCNA1 DCC RPS24 FKTN FLNA NDUFS2 TFAP2A RPL35 RPS17 SDHA COMT CDC73 SBDS SCNN1G GLA LRP5 BBS1 PIGV APRT LAMB3 PIEZO2 KCNQ1OT1 SLC36A2 ACTB NUP93 TBC1D20 SNAP29 CCDC28B ABCC8 PAX2 MBTPS2 FLII FN1 SALL1 CDKL5 SLC26A4 CC2D2A EBP NDUFAF5 XRCC4 FANCA NUP205 YAP1 PMM2 CLDN19 CEP290 ALPL ACP5 FLNA CPT2 STAT3 TRIM37 RPL31 WNT4 IFT140 CCN2 DLC1 SGPL1 NDUFAF3 SDHB EP300 HSPG2 TBCK IRF2BP2 CCNQ BUB1 MYO1E SHPK C3 PC NF1 CEP41 POMT2 DHCR24 ARID1B RMRP NUP133 PEX6 WAS ACSL4 MICOS13 KCNJ11 IGF2 H19-ICR B3GLCT CCR1 TPRKB FH HIRA LRIG2 TTC21B GSN PGK1 FOXI1 TLR2 MOCS2 CDKN1B TELO2 SSR4 CTLA4 DACT1 HLA-DRB1 FIBP SH2B1 RBM8A ALOXE3 CDC42 HNF1A TCTN2 VHL TBX3 FAT4 NABP1 FBN1 NUMA1 LMNB2 PTPRO ERCC8 LAGE3 FANCB FCGR2B SALL4 GBA DZIP1L MDM2 LAMA3 CDON NOTCH2 KAT6A AVPR2 STRADA BBS12 CLCN5 NRIP1 DYNC2I1 ARL3 NPHP1 WWOX PCK2 SI LRP5 WDR35 DYNC2I2 CTNNB1 SCNN1A SNRPB DHX37 SLX4 FGF8 ABCA12 PKD1 TRIP13 CDC73 BBS7 NPHP4 ELN NOTCH3 KMT2D DIS3L2 SMARCAL1 PKD2 TRNL1 WNT3 JMJD1C IARS1 TRNT1 VPS33A ARMC5 CREBBP CCR6 DIS3L2 LMX1B COX2 BRCA2 SLC25A20 GTF2I KNL1 AURKA ALG9 ACTG1 KYNU SOX4 GPC3 ATP6 WDR19 TRPC6 POR VDR LMNA ERCC4 THOC6 MBTPS2 GATA1 SLC1A1 COQ7 VPS33A GDF3 FH CACNA1D BBS9 PEX2 SETBP1 WT1 SIX3 FKRP GLA PEX13 RPL35A MNX1 ANTXR1 DSE ND6 HLA-B FLNA B3GLCT CPOX LEMD3 FREM1 DLL1 BBS4 NDUFAF3 SLC2A2 NDUFS4 SAA1 FGFR3 ABCC6 RBBP8 TRNS1 NCAPG2 COL14A1 YY1 RAG2 RPL11 TMEM107 DUSP6 PNPLA6 PLAGL1 MFSD2A CREBBP PDSS2 EVC2 DYNC2LI1 RARB MBTPS2 WFS1 ND4 TMEM126B NDUFAF1 MYOCD NAA10 TSC1 FAS DCHS1 SLC6A17 G6PC3 FLCN EXTL3 DYNC2I2 PAX1 PUS3 CTNS CDK6 SLC3A1 RAG1 VAC14 BUB1B ATRX IGF2 FANCD2 TBL1XR1 PEX12 ADAMTS13 DCDC2 ATP7A LMNA CYBC1 NPHP1 SEMA3A SMARCD1 MOCS1 CD109 TMEM67 LZTFL1 CA2 LMX1B GAS1 DYNC2H1 FRAS1 ERCC6 PIGY NEU1 GP1BA FANCL BTNL2 PGAP3 SMOC1 PLEC REST RPS29 ND2 TGIF1 HSPA9 PIGA ERCC8 ACVRL1 AGTR1 TCN2 MAFB NUBPL DDX59 GP1BB WNT4 WNT4 MAP3K7 ADA PIGY KLF11 NUP107 SALL4 C3 PACS1 GLI2 PKD1 LDHA CCDC141 FUZ MAP3K1 PEX14 C1QBP SLC12A3 LHX1 RPS26 GLI3 AR ZBTB16 SPART B2M AXIN2 CEP290 DYRK1A IL12A-AS1 UQCC2 MME MKKS CDKN1B STIL TP53 WDR4 BNC2 ACTG2 LMX1B ITGB4 SCARB2 ZAP70 AMMECR1 TMEM138 GNB1 NDUFV1 SCO2 HMOX1 IFT140 GRHPR CD96 CLIP2 PROKR2 PIGT GLI1 FGFR3 FANCF UMOD POR PRKCSH BAZ1B C8ORF37 WDR19 FLCN ETFB STOX1 AIP DICER1 GCM2 TMEM231 LDLR XRCC2 DNASE1L3 FGF23 SPRY2 GLIS2 HNF1A CDKN2C COLEC11 SIX1 MEN1 ATRX POU6F2 IFT172 ITGA2B SOX17 KMT2A CCDC22 TBC1D24 CEP290 INSR PKD2 INF2 DIS3L2 CORIN TNXB NDUFS8 TBC1D24 NLRP3 FOXRED1 CEP290 IFT80 EXT2 EXT2 NDUFB10 SLC2A9 COG1 XPNPEP3 CDK4 HBB CFH GABRD BRCA1 KCNAB2 USF3 GCK NDNF H19 EMP2 HDAC4 SDHD ND5 F5 SDHD IL2RG MEFV SERPINF2 RAB3GAP2 FIG4 ELP1 ASXL1 FGFR3 TXNL4A ARX NUP107 CASR KISS1R METTL5 FUT8 KITLG NDUFV2 TBX1 CLCN5 EYA1 ENPP1 IFT43 GPKOW COL4A4 FAS CCNQ NPHS1 COG6 ADAMTS3 PIGL PUF60 TRAPPC14 AGPAT2 NOD2 RAI1 HOGA1 CC2D2A IFT43 COL4A3 SIK1 TMEM237 SLC12A1 COPB2 SLC37A4 TRIM32 SEC63 TMEM126B INTS1 BMPER DZIP1L TRNW PEX5 CCND1 COPA FRAS1 NSD1 MLH1 NPM1 WDR73 FLCN FOXP1 ND6 GRHPR MYO5B TACR3 PEX7 AVIL AMMECR1 TBX18 PML ND2 CREBBP MYMK APC NADK2 TTC8 RPS10 CEP120 SMO PLG INTU CD46 ERCC6 ARNT2 SLC26A1 NDUFB9 SLC6A19 KIF1B CEP55 VHL CPT2 IQSEC2 ANOS1 HSD11B2 COA8 B9D1 LMAN1 ZEB2 UMOD GNAO1 ABCC8 FBXW11
Protein Mutations 4
C282T C677T K55R Y93H