SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) rs165599 (2) rs2200733 (2) rs1150226 (2) rs4646 (2) rs3798220 (2) rs3813929 (2) rs25487 (2) rs10830963 (2) rs2472677 (2) rs2281135 (2) rs4986893 (2) rs3211938 (2) rs8050136 (2) rs1801131 (2) rs855791 (2) rs5219 (2) rs4646437 (2) rs2228570 (2) rs2070744 (1) rs1017783 (1) rs4986938 (1) rs2297201 (1) rs377637047 (1) rs2298771 (1) rs1799724 (1) rs7799039 (1) rs7041 (1) rs7586970 (1) rs8175347 (1) rs1799853 (1) rs1799732 (1) rs6190 (1) rs9344 (1) rs3918242 (1) rs7549785 (1) rs3796529 (1) rs10835211 (1) rs3570920 (1) rs1998199 (1) rs2274333 (1) rs78408340 (1) rs28363170 (1) rs2987983 (1) rs833069rs (1) rs41524547 (1) rs12529 (1) rs1042522 (1) rs11958940 (1) rs34743033 (1) rs13058338 (1) rs2043211 (1) rs5082 (1) rs6739405 (1) rs4958351 (1) rs6296 (1) rs3761624 (1) rs13333226 (1) rs179008 (1) rs4802703 (1) rs547154 (1) rs7521902 (1) rs867186 (1) rs641738 (1) rs2540923 (1) rs2297480 (1) rs1672717 (1) rs4869676 (1) rs10163409 (1) rs4869675 (1) rs236114 (1) rs6165 (1) rs700518 (1) rs11615 (1) rs3025039 (1) rs11795404 (1) rs3816527 (1) rs999737 (1) rs10836235 (1) rs1256049 (1) rs27072 (1) rs614367 (1) rs12434438 (1) rs137852620 (1) rs3853445 (1) rs35874116 (1) rs3747158 (1) rs1799930 (1) rs20432111 (1) rs5068 (1) rs1310182 (1) rs7604448 (1) rs20455 (1) rs1042714 (1) rs3114018 (1) rs2269273 (1) rs6269 (1) rs1042711 (1) rs2269272 (1) rs861529 (1) rs18011131 (1) rs9340799 (1) rs2235046 (1) rs316019 (1) rs10995190 (1) rs1260326 (1) rs4570625 (1) rs1042718 (1) rs2250656 (1) rs731236 (1) rs2307227 (1) rs41524745 (1) rs6841581 (1) rs1049353 (1) rs244072 (1) rs13208321 (1) rs35463555 (1) rs1052533 (1) rs3918226 (1) rs61747728 (1) rs4073 (1) rs904627 (1) rs2295190 (1) rs2053044 (1) rs10153820 (1) rs754203 (1) rs547987105 (1) rs2562582 (1) rs2494732 (1) rs619824 (1) rs8176528 (1) rs1360780 (1) rs833061 (1) rs16147 (1) rs72552763 (1) rs9679162 (1) rs2280964 (1) rs7975232 (1) rs1726866 (1) rs10813831 (1) rs6504950 (1) rs806380 (1) rs6856901 (1) rs45511401 (1) rs573562920 (1) rs3210140 (1) rs887829 (1) rs7221412 (1) rs628031 (1) rs20417 (1) rs2687133 (1) rs7579240 (1) rs174535 (1) rs679620 (1) rs2060793 (1) rs806377 (1) rs1800629 (1) rs66554220 (1) rs1800624 (1) rs3750920 (1) rs1042522s (1) rs10246939 (1) rs2550946 (1) rs2279744 (1) rs909253 (1) rs2071559 (1) rs1024582 (1) rs10930214 (1) rs13387042 (1) rs17601696 (1) rs2046210 (1) rs8065080 (1) rs4604006 (1) rs2002555 (1) rs757110 (1) rs2910164 (1) rs1061325 (1) rs4950928 (1) rs10994336 (1) rs11548193 (1) rs73049 (1) rs9457827 (1) rs1883112 (1) rs17782313 (1) rs12459419 (1) rs150018775 (1) rs708272 (1) rs2275163 (1) rs12762549 (1) rs10941679 (1) rs699947 (1) rs2895795 (1) rs2697153 (1) rs45500792 (1) rs30461 (1) rs550842646 (1) rs2067085 (1) rs1051931 (1) rs333 (1) rs3853839 (1) rs956572 (1) rs4900442 (1) rs3755166 (1) rs324015 (1) rs271924 (1) rs3758673 (1) rs3758674 (1) rs11572080 (1) rs4151667 (1) rs894278 (1) rs10859871 (1) rs2294918 (1) rs933226 (1) rs9657182 (1) rs571312 (1) rs20715592 (1) rs12201199 (1) rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) 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) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) 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, 2020-2021.
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 567
LHX1 BLK MERTK PROK2 UBR1 MTHFR MAGEL2 UBR1 NODAL ND6 NDUFS4 RETN TRNL1 MAGEL2 TRNK POLA1 GTF2IRD1 TRNC SLC7A14 RP1 HNF1A CTRC CAVIN1 BRAF RTL1 BBS1 FGFR1 PDE6A CNGB1 LIPE ZNF408 HNF1B TRNS2 GCK HNF4A SHH CTNNB1 BMP2 HYMAI DCAF17 PTF1A TOPORS CFTR KCNJ11 OCA2 SPINK1 ENPP1 AMACR MTNR1B ND1 TCF4 RBP3 ELMO2 PRSS1 SAG MAPK8IP1 PAX4 TP53 NDN FUZ DLL1 PROKR2 RTL1 PCNT SIM1 CLIP2 ABCC8 ELN KCTD1 PIK3R1 TTC7A IRS2 IGF1R GNAS EDA2R ABCC8 PIK3R1 OFD1 PLIN1 CNBP PEX10 COX1 ELN KLF11 SLC19A2 TULP1 LMNB2 PEX6 AKT2 NDUFV2 NDUFAF5 HFE GLIS3 SNRNP200 INS FOXP3 HMGA1 LIPE TRMT10A XRCC4 NEUROD1 HESX1 PTRH2 MTHFR PDE4D NSMCE2 GLRX5 HAMP HNF1B TRNW NPAP1 PPARG SUFU RP9 IFT88 IRS1 RHO PLAGL1 BLM TDGF1 PRSS1 AKT2 PDX1 TRNW ARL3 RPGR HNF4A GPD2 LMNA PDE6B USB1 MEG3 NDUFB10 SNORD115-1 ZNF513 DNAJC21 WFS1 XRCC4 SOX3 SLC25A4 IL2RA RLBP1 NDUFA11 MKRN3-AS1 PRKAR1A NDUFS3 HJV TKT FAM161A GCK LIG4 ROM1 GJA1 TRNS1 TRNH BLM COX1 SNRPN TTC8 PDE8B AGPAT2 TREX1 TINF2 LMNA AIP DCAF17 ND2 IFIH1 BRCA1 IDH3B DNM1L PDE4D GJB4 USP8 BEST1 PWRN1 GATA6 IPW RP2 ND1 GATA6 ARNT2 SLC19A2 APPL1 ND4 PDX1 FOXRED1 TRNF STAT1 INSR IMPDH1 GATA3 SLC2A2 DHDDS EIF2S3 IL6 CNOT1 HLA-DRB1 GPR101 PPARG TRNQ GCK RPE65 ATP6 SNRPN ZBTB20 CISD2 TRNS1 INS CAT SPATA7 RAC1 NDUFB11 HNF4A PALLD RNASEH2B TRNE XRCC4 NDUFAF8 ARHGEF18 STAT1 CYTB LIPC GCK EDA HBB MMP2 OCA2 ZFYVE26 FOXP3 TRNF KLHL7 ALMS1 CP SEMA4A USH2A FGF8 SBDS HBB CERKL INS CYP19A1 APPL1 RNASEH2A TRNS2 ZFP57 GJA1 CDON TIMMDC1 FGFR1 POLR3A AGPAT2 MAGEL2 HNF4A ZFP57 ND1 FOXH1 PRPF8 IARS1 SPINK1 PAX4 HNF1A NDUFAF3 GAS1 CDHR1 NPM1 STUB1 PWAR1 CPA1 KCNJ11 EYS HNF1A IL18BP DISP1 PDX1 VANGL1 CEP19 POLG2 CARS1 CLRN1 HNF1B NDN MKRN3 KCNJ11 BSCL2 OCA2 ZIC2 SRP54 CAV1 CFTR DHX38 IFT172 PPARG FXN WRN PLIN1 INSR WRN NDUFB9 WFS1 DLK1 MMP14 LEP PTPN1 ARL2BP PRCD EIF2AK3 CIDEC ITCH PRPH2 CDH23 NEK2 ATM PTRH2 TTPA SLC29A3 NDN NKX2-5 PDE11A NDUFS8 REEP6 AGBL5 ZMPSTE24 PROM1 NDUFS6 TRNK AEBP1 PRSS2 LEPR TBL2 BBS2 COL2A1 LRP6 GCK POC1A PDX1 CTNS CORIN PNPLA2 IFT140 PPP1R15B FOXP1 RFC2 CTRC NDUFS1 LMNA PTPN22 SNORD116-1 LEPR RNASEH2C RRM2B LIMK1 BLK NOTCH3 HMGA2 TWNK CNOT1 FLT1 NEUROD1 KCNJ11 ABCA4 IDH3A CDKN2A NDUFA6 KIZ ABCC8 ATM BRCA2 ND6 NDUFS2 LMNA ND3 IMPG2 MST1 TGIF1 PAX4 WFS1 KCNJ11 FXN NOP10 KDSR MEG3 OPA1 TRNQ TUB HYMAI CISD2 DNAJC3 STOX1 IL2RA NDUFS7 NDUFA1 NUBPL BSCL2 PEX1 COX2 SPINK1 PAX4 RTEL1 INS NDUFB3 COX3 CASR SMAD4 GCK ITPR3 SNRPN HBB POLG NDP OTX2 SLC12A3 TRNE PNPLA6 APOA5 LMNA GCK STAT3 POMGNT1 PDE6G WFS1 GLI2 CLCNKB ALMS1 AHI1 LEMD3 HNF1A BBS2 GJB3 ABCC8 TP53 ITCH RP1L1 PLAGL1 LMNA PALB2 NDUFAF2 CRB1 CNGA1 DMPK PPP1R3A PNPLA2 PTCH1 WRAP53 STAT3 SAMHD1 HYMAI NDUFV1 HGSNAT HNF1B HNF4A SLC29A3 ARMC5 CCDC28B KRAS GTF2I MAGEL2 TWNK HNF1A PRPF3 VANGL2 GUCA1B TMEM126B EIF2AK3 TRNV TERT KCNJ11 PTF1A FBN1 IGF2BP2 ARL6 COX2 HFE AIP NR2E3 PCARE MAK KCNJ11 HLA-DQB1 ABCC8 NDN PLCD1 NDUFAF4 POLD1 CEL VANGL2 NSMCE2 PSTPIP1 SOX2 SIX3 ND5 TCF7L2 NEUROG3 MKKS CAV1 SMPD4 SLC16A2 PDX1 FSCN2 PRKACA CA4 MC4R TRNL1 PRKACA CTC1 ADA2 PRSS2 SNRPN RGR AHR DMXL2 PRPF4 KLF11 ADAR SARS2 MOG MEN1 HERC2 CP ND5 INSR LRAT MAFA EFL1 HNF1A TERC FOXC2 SCAPER FOS CRX DLK1 KIAA1549 MAGEL2 MLXIPL DNAJC3 PRPF31 AIRE PRPF6 PARN DKC1 NEUROD1 APOE PPARG WFS1 ABCC8 LRBA AR NRL NHP2 GPR35 BAZ1B RDH12 ERGIC1 ARL6 NDUFAF1 SLC30A8 PDX1 COX3 ABCC8 INS C8ORF37 IER3IP1 PRKAR1A KCNJ11 CEL INS TRNL1
HP:0000077: Abnormality of the kidney
Genes 1801
SH2B1 SMARCB1 IGF2 RPS7 SLC34A1 WT1 TRNK B3GLCT MITF NDUFS4 ALG9 MME KAT6B OFD1 CEP164 CRB2 FREM1 NTRK1 ARVCF RPS15A ND1 WDR11 ANTXR1 RREB1 LETM1 GNA11 IFT172 NPHP3 MAFB MET ANTXR1 PEX11B PAX4 APOB ZIC3 STK11 BUB1B SNAI2 FLRT3 DYNC2H1 MCC CEP290 KCTD1 BRIP1 BRAF SEC24C FGFR3 TBC1D20 PEX13 SLC37A4 PIGA TSC1 FANCG FOXF1 NDUFV2 ADAMTSL1 ENPP1 EVC2 DLST CRB2 ADGRG2 COQ8B ACTN4 DNMT3A PC FLNB ITGA8 NOD2 EFEMP2 C8ORF37 WASHC5 KRAS XYLT1 CYB561 KMT2A BMPER CLCNKA PIGT PRKCD SUFU PTCH1 KIF14 CCR6 DNAJB11 HOXD13 IGF2 CLCN5 TRRAP PLAGL1 PALB2 RRM2B IFT27 INTS1 PEX19 MAP2K2 WT1 PPP1R15B AMMECR1 HNF4A ADA2 MED25 ERCC8 FANCL RAB23 ALDOB TKT VPS33A KIAA0753 HRAS NUP160 PIK3CA DLL4 F8 TBX15 MVK GALNT3 KIAA0753 PREPL SCO2 CAV1 PUF60 RYR1 CCBE1 ELP1 NLRP3 FANCF PIK3CA WDPCP APPL1 ND4 RPS19 PNKP IFT80 CPT1A PEX1 IGF2 FLI1 MBTPS2 DGKE IFT140 HOGA1 DSTYK PEX12 NPHP4 PRKCSH TCTN3 SOX10 TRNN NOTCH3 SLC5A2 DICER1 CFTR CCBE1 NDUFB11 SLC6A19 KYNU CD2AP NADSYN1 UMPS CDC42 HMBS ALG8 BRAF SC5D TMEM216 MCFD2 SCARB2 CREBBP TMEM107 PTPRO XPNPEP3 NOTCH2 ABCC6 PORCN CEP57 PEX10 PIK3R2 CEP41 RAD21 RERE FLNA CASK TCTN3 PTPN22 TRNS2 CDON EDNRB TIMMDC1 PPM1B STRA6 LRIG2 SIK1 RPS19 IL12A-AS1 CIT CDKN1B CCN2 TSC2 TRIM32 GPKOW ARL6 WDR73 TCTN2 PCSK9 CIT PHYH DSE PEX1 DHODH DYNC2H1 NSUN2 RET IFT80 FGFR3 MKS1 DYNC2LI1 NPHP3 WFS1 VHL POU6F2 EBP PMM2 COL4A3 MNX1 TP63 RPGRIP1L SLC29A3 THBD BAX CLCN5 RAG2 SPOP PGM3 MMUT FANCE TP53 SDR9C7 SHANK3 MYOD1 NDUFS6 TRNK ZEB2 AGTR1 GRHPR ATRX ENG CCNQ SLC34A1 COLEC11 MDM2 SLC22A12 LAMC2 NPHS2 GREB1L IL17F VAMP7 MKKS FANCC PYGL BLK ZNF592 ITGA3 CAMKMT PIGL MKS1 COQ2 ATP7B RNU4ATAC TASP1 SAA1 TBC1D24 TTC37 LTBP4 IL17RA MCTP2 ATN1 NPHP1 TAF13 PDGFRB PUF60 NDUFAF6 FOXI1 SLC4A1 IQSEC2 SDHB APC GLMN HYMAI TMEM216 CISD2 BUB1B GDF2 BUB1B TNXB NDUFA1 RAD54B NEU1 BSCL2 NPHS1 CDKN1B KANK2 AURKA PRKAR1A APRT YWHAE FLCN COX3 IFT43 CC2D2A USF3 FGFR2 TREX1 ACVRL1 FLNA CC2D2A ZFPM2 XDH WAC ITGA6 STRA6 NDUFAF3 IL17RD FANCB ANLN SLC1A1 ROBO2 ETFB RNU4ATAC SIX5 GLI2 CLCNKB OGG1 PAX6 CCDC141 SLC2A2 RPL31 FH RPGRIP1L AQP2 HNF1A COL4A1 SIX1 ABCC8 BRCA2 BSND NDUFAF2 CCDC22 COL4A3 PTCH1 CFI STAT3 TMEM67 C1QBP COQ6 TREX1 ARMC5 SLC26A1 KAT6B MEFV GNA11 HOGA1 TMEM126B IRAK1 REN FUT8 PEX12 PLCD1 GP1BB MDH2 HNRNPK FREM2 PIGY SLC34A3 MAX NSDHL SERPINH1 EYA1 HSPA9 PROK2 SETD2 SLITRK6 SMARCD1 TELO2 F10 DZIP1L SOX17 PDGFRL NUP107 TP53RK CDC73 RIPK4 BCS1L TSR2 PYCR2 BMPER CTNS PML LAGE3 CPT2 SOX9 TMEM67 CHD7 CEP290 FH SDCCAG8 ATRX FOXC2 RBM10 GDF6 MAP3K1 CC2D2A BBS12 MDM2 CASR RFWD3 OPLAH VHL H19 SDHD SLC12A1 NUP133 WFS1 GPC3 ALG9 NUP93 CYP11B2 FANCB IL2RG OSTM1 SLC17A5 ABCG8 ETFA TMEM231 ROR2 GP1BA SMAD4 KDM6A CDK5RAP2 HPSE2 INVS LEMD3 MYLK NXN UBR1 PGAM2 NODAL ND6 CSPP1 BBIP1 DHCR7 GSN KCNJ5 ARID2 BBS1 ASXL1 FGFR1 ARX NDUFAF3 TBX18 HNF4A GPC4 RAB3GAP2 GRHPR DNA2 AGT CACNA1S TMEM231 SOX4 NFIA CEP63 FGFR2 BCOR BBS10 CD81 FUZ TMEM67 OCRL CRTAP PEX13 B3GLCT ABCC6 TRIP13 ABCC8 BMP4 CPLANE1 CYBC1 ELN FANCD2 NPHP1 REST ACE CLEC7A RTL1 GP1BB TP53 GLI3 FRAS1 DIS3L2 PMM2 INSL3 WT1 TGM1 CCNQ PTEN ARID1B AGGF1 NPHP1 ARL3 NDUFAF5 SLX4 RPL27 SEC23B UMOD PPOX KRT17 SLC3A1 CA2 CC2D2A AP2S1 CEP83 STAT5B WNT4 CREBBP FAM20C SOX9 BBS4 SLC7A7 BCS1L GCM2 CD46 DIS3L2 KNSTRN GRIP1 FANCD2 PTPN22 COL4A4 TMEM67 KIF14 IL7R GPC4 H19-ICR SMARCAL1 RMND1 PUS3 G6PC3 MARS1 CEP290 NDUFB10 FREM2 PEX26 TPRKB SPRY4 PEX19 CLDN19 ENPP1 MED25 NCAPG2 SEMA3E IQCB1 PRTN3 ARID1A XYLT2 C1QB HPSE2 GP1BB TRNS1 FCGR2B SDHD NRIP1 SALL4 SI MOCS1 DSTYK NADK2 FANCI ZAP70 ALDOB LMNA ND2 ALOX12B ND5 C3 TMEM260 BBIP1 USP8 DPH1 USP8 MASP1 SALL4 PEX3 IL6 C4A TRNQ COLEC10 GCK RAI1 GATM SON AGXT SBDS TBC1D24 PEX1 CHRM3 DMXL2 NPHP3 TRNE PRMT7 KIF14 SMARCA4 DHCR7 MMACHC KITLG KIAA0586 SDHB TRIM32 AMER1 GBA SPP1 KIF7 MKKS PTPN22 FOXP3 FGFR2 AKT1 SDHB TRNF TMEM138 SDCCAG8 CDKN1C CDC73 IFT43 KANSL1 HBB COL4A1 SLC4A1 FN1 ACP5 FANCB AFF4 SDHB ZFP57 CLDN10 TMEM231 OFD1 KLHL7 NPHP4 PTPN11 RPL26 COG1 PHGDH ACTG1 KDM6A CDC73 STRADA PTPN12 NUP133 MLH3 FBLN5 MSH6 LAMB2 TMEM107 PEX16 NIPBL HABP2 CD109 TRNL1 CHD7 PRODH SLC37A4 CFI LRP2 PHF21A NPHP4 ZIC2 SOX18 FAM20A DYNC2LI1 COL14A1 INSR CDKN2C PIGN ND2 ADAT3 WWOX EIF2AK3 CPOX RPS17 APC2 DHX37 NSMF GLIS2 TBX1 NSD1 PIEZO2 LMNB2 DYNC2I1 CREBBP TMEM237 PDE6D TMEM231 TBX1 ATRX PGAP3 IL10 MLH1 MAGED2 GCK EHMT1 CTNS SDHD PRCC FLNB STRADA FOXP1 BCOR TMCO1 NDUFS1 PPP2R3C APOE PEX5 PDHA1 FH CLCNKB BBS1 MYH9 SLC2A9 MYO1E FAM149B1 CCND1 ALG8 HESX1 AVPR2 TGIF1 NEUROD2 MBTPS2 TRAF3IP2 TBX1 TRIM28 WDPCP KISS1R SSR4 PIGP HNRNPU TRNS1 CEP152 CCND1 STIL HAAO MAP2K1 MKKS LMAN1 SC5D ADCY10 AFF4 TFAP2A IL23R COX2 COQ2 FBXW11 OFD1 INS TSC2 RAI1 MYH11 ITPR3 PROKR2 GBE1 FGF10 PLA2G2A AMMECR1 ATP1A1 LMNA POGZ ENPP1 TCTN3 WDR62 CLCN5 GLI3 SREBF1 ITGA2B SMARCE1 ALMS1 GCM2 POU3F4 SEMA3A FGA RPGRIP1L H19-ICR LIPT2 CFH CDKN1C SDHA CACNA1D WAS CASR GNB1 LAGE3 F2 MOCS2 EHMT1 DYRK1A FAS WDR35 HPS1 G6PC1 CCDC28B GTF2I SCN2A GPC3 PDE6D TPRKB ATP6V0A4 DMRT3 APOA1 SMARCAL1 NEK8 IFIH1 TMEM127 KCNJ11 CLPB EP300 OSGEP SETD5 AHI1 CSPP1 CCR1 UQCC2 MINPP1 PLEC POR OFD1 WNT4 WDR35 FAS MKS1 RAD51 DUSP6 TRNT1 MMUT HYLS1 MKKS NPHP1 XRCC2 NRAS VHL GREB1L ERAP1 ERCC6 INF2 SLC3A1 KEAP1 SLC25A22 PGK1 MYMK RFWD3 COL4A4 MBTPS2 CEP290 GPC4 ITGA8 HPRT1 CDKN1B KLRC4 C4A TRPC6 DNASE1 CA2 PREPL DICER1 PLCE1 MMP1 PROKR2 MLXIPL VIPAS39 PIGN STX3 HLA-DRB1 WDR19 TMEM237 ANOS1 MEG3 APOE GNAO1 HELLPAR FLCN WT1 GPR35 BAZ1B CDKN1A ALG1 WT1 GRIA3 MID1 GP1BA NIPAL4 AKT1 KCNAB2 CENPJ CTNS CEL TRNL1 LCAT KMT2D FIBP UBR1 KCNA1 FEZF1 COL7A1 HSPG2 IARS1 TFE3 GTF2IRD1 PIGY CDK6 SPINK5 SOX9 PGAP2 PUF60 STAG1 CCND2 FANCM CTNS NOTCH2 PACS1 NELFA NAA10 KCNJ11 PIK3C2A GLI1 PAX2 FXYD2 PIK3CD HNF1B USP9X TCF4 WDR35 SHPK HLA-DPA1 SETBP1 WT1 CEP164 PIEZO2 SLC30A9 CYP27A1 ARHGDIA WAS NLRP3 TP63 TBX3 NF1 RARA RPL26 TREX1 DDX59 KLF11 LMNB2 COL3A1 CD96 ERCC8 HLA-DPB1 GLIS3 PEX2 CFHR1 BRF1 LIPN SLC25A20 DICER1 HRAS CASP10 TSC1 SIX5 NIPBL NEUROD1 WDR19 CEP290 ATP7A TRNW B4GAT1 GDNF CTLA4 EPAS1 ADAMTS3 SPECC1L BLM PKD2 PPP3CA TTC21B PKD2 PDX1 NPHP1 FKTN ADA2 KCNJ1 FGFR1 POU6F2 CFI SNRPB MYOCD GATA4 TMEM70 FLNA STAT2 ARL6IP6 FAH PYGM RASA1 NEK1 FAN1 NR0B1 LIG4 NF1 NF1 UMOD SLC7A9 RPL35 SRY SDHAF2 FAS TAPT1 TMEM216 SDHD ZNF687 SLC35A2 SLC4A4 MSH2 CTLA4 DZIP1L ESCO2 FOXE1 LRP5 TRIM37 EXT2 ITGA2B KIF1B KMT2A ITGB3 STXBP1 SLC9A3R1 PAX1 BBS9 SERPINF2 ATP6V1B1 SPRY2 STAT1 FGF8 ELP1 SCNN1A SNRPN RMRP LMX1B MAX LRIG2 GATA3 KCNJ10 LDHA CYP4F22 ERCC8 MEFV WT1 WT1 NDUFAF8 CCND1 KCNQ1OT1 FANCC SKIV2L PHEX FANCI NRAS SDHC LDLRAP1 PEX6 SALL4 SLC36A2 TRIM28 MFSD2A TBX22 PIGV ALMS1 FGF8 CPLANE1 GPC3 WNT5A B9D1 MAFB DHDDS DACT1 MDM2 LEMD3 FGF20 BBS7 DDX6 PQBP1 HNF4A LDLR DVL1 DNASE1L3 RASGRP1 CHD7 CCDC141 FANCA TRAPPC14 DMP1 PCK2 KLLN B9D1 IARS1 KNL1 HNF1A GAS1 KCNQ1OT1 MGME1 TTC21B HIC1 APC CWC27 IL12A PTPRJ MMUT CHRM3 CLDN16 SF3B4 PEX7 IL17RC CFB COL4A5 LYZ SLC26A4 CD96 CILK1 ACP5 DNAJC21 MYCN BRAF DDX59 PAH WRN RBM8A NDUFB9 RPS26 PIGA CDH23 SCARB2 HPRT1 PIGL PEX10 WDR73 MSH3 C1QA JAK1 RET RAI1 SULT2B1 JMJD1C BUB1 PALB2 COQ7 OCLN GEMIN4 ETFDH TBX1 WDR19 PIGT ZAP70 IFT172 FKRP CORIN PTPN22 HPRT1 GCDH LIMK1 HMGA2 ASPM KRAS FGF23 EP300 SPART BRCA2 NDUFA6 CDC42 CDKL5 RPS10 RPGRIP1L NDUFS2 PIGO STAT4 MAP3K7 VAC14 PKHD1 ND3 TMEM216 RBBP8 CD151 GNB1 SOX10 BRCA2 ARX ZMIZ1 NUP107 WDR4 HNRNPK RAF1 FASLG ATRX TNXB SMARCC2 CFH DEAF1 C3 TXNL4A INTU STAT3 PLG ESCO2 LONP1 TMEM126B PIGV BCOR TMEM127 LPIN2 KYNU NUP205 SLC12A3 ADA SETBP1 CFH FIBP HLA-B HDAC4 SLX4 TSC1 PIGQ RECQL4 LEMD3 TBC1D8B PKDCC FGFR2 RPS26 MEFV NEK8 GABRD IRF2BP2 EHMT1 ABCG5 TRIM8 DCC WNT4 RPL5 WNT4 RPS27 SURF1 TFAP2A RPS24 VPS33B RPL35A RET UFD1 SHH HNF1B APRT HNF4A DHX16 NOTCH2 UBE2T SRP54 SCNN1B DKC1 SHANK3 BBS5 SF3B4 LAMB3 SMS ERCC6 KCNQ1 GLI3 SLC6A20 KANSL1 EIF2AK3 RAB18 FBN1 ARL6 BBS4 FGFR1 YAP1 RAI1 NDUFS2 SALL1 STXBP1 CPT1A ZEB2 SMC1A NDUFAF4 ERCC4 ERBB3 INPP5E SIX3 OCRL CTU2 ADCY10 CENPF AR CDC73 SMC3 PDX1 FLNA GATA1 DIS3L2 WDR19 APOL1 INF2 HLA-DRB1 CPT2 DPH1 DLC1 CEP290 H19-ICR SARS2 MTRR TCN2 HDAC8 TBL1XR1 EYA1 BUB3 RAD51C AQP2 ITGB3 NSD1 SLC6A17 TRIP13 FAM20A KMT2C AIRE NARS2 LIG4 AMMECR1 POLE BBS2 REN ABCC8 FANCA IGF2 VHL EXTL3 KCNE5 COMT KAT6A AIP KCNJ10 TP53 PDSS2 LARGE1 FCGR2A CYTB SALL1 CLDN19 BTNL2 WNT3 CYP24A1 LHX1 ALOXE3 PIGN VHL BAP1 VDR PAFAH1B1 HGD FN1 FAT4 YY1AP1 NPM1 ZBTB16 FREM1 EPG5 INSR ERCC6 MCM5 ARID1B OSGEP CDKN2A LAMA3 ANKLE2 SPECC1L IKZF1 SHH RORA LMNA YY1 PIK3C2A AKT1 LMBRD1 IFT172 PDSS2 IFT140 LZTFL1 COPA MYO5B SRY SNRPB SEC63 PTEN DYNC2I1 CTNNB1 CASR SCNN1G ZNF423 RAD51C DLL1 PRDX1 SDHB ABCA12 MUC1 REST KYNU TTC8 CLIP2 H19 PKD1 RSPO2 HIRA DYNC2LI1 GNAS IRF5 LMX1B MEN1 COX1 HSD17B4 PEX3 ELN CEP135 TMEM67 MYD88 CLCNKB BUB1 RPL11 PORCN ACTB CFHR5 SOX11 FOXP3 H19 WDR19 USP9X ND4 SDCCAG8 PKHD1 TTR SON KLLN MAFB RPL11 CHEK2 SCNN1B PAX2 HNF1B PCK1 IFT122 AKT3 PTPN11 MEOX1 CPT2 ARL6 PEX2 MRPS22 FAT4 TTC37 DACT1 WT1 TDGF1 GLA RPL15 NF1 DYNC2I2 CHST14 TRNV MEN1 FLNA SLC12A3 TMEM67 OCRL BBS10 MAGI2 CASR NDUFA11 NDUFS3 GSN ALDH18A1 ARX MEFV NOD2 SERPINA1 FRAS1 MYCN NBN TRNH AAGAB RAG1 RNF139 CEP55 AGXT NUP85 FGF17 SASS6 SLC7A7 UMOD RARB JAM3 ND1 KMT2D TBCK WDR73 NPHP3 FOXRED1 MICOS13 CSPP1 TMEM216 CASP10 DCHS1 GATA3 DLK1 DCHS1 ZEB2 CHN1 PIK3R2 RPL18 CHRNA3 PGK1 KCNH1 EYA1 LMOD1 FGFR3 PHC1 ADA FIG4 XRCC4 TLR2 FLNA KCTD1 ND3 TRAF3IP1 TTC21B SMO NUMA1 TMEM231 GLA FANCL FBXL4 GDF3 ROR2 NSD2 NUP107 HS6ST1 DPF2 ITGA2 CEP290 FLNA PKD1 CHD4 ZIC3 FLCN SLC3A1 ERCC4 CDK4 POLR3A AGPAT2 PIGW SMOC1 ACTG2 ND1 FOXH1 COG7 STS MOCOS PRKCD SLC34A1 BICC1 PEX7 NDUFAF3 GP9 DYNC2I2 RBM10 KCNJ11 DISP1 GANAB TACR3 VANGL1 NR5A1 TRIP11 TSC2 PEX14 WDR19 KANSL1 IFNG PHYH HNF1B HOXA13 RPS28 NLRP3 NABP1 B2M FLCN PLVAP DYRK1A ARNT2 RAD21 INVS HMOX1 ADAMTS13 MCPH1 AXIN2 LMX1B ITGB4 GBA ZNF423 CEP120 KIF1B CTH PIGL NDUFS8 NDUFB8 PBX1 TOR1A B9D2 TBL2 EVC SDCCAG8 FANCE WIPF1 CEP120 RFC2 NPHP3 CAD SGPL1 PAX7 BBS12 HNF1A NPHP1 WDR4 FLT1 TRNT PPP2R1A SURF1 B9D2 BRCA1 LRP4 CACNA1D SRCAP CDKN2B SIX1 LRP5 IQCB1 MAPKBP1 TRIP13 YAP1 MST1 ANKS6 SEMA3E MMACHC LPIN1 PRPS1 PIK3CA SMC1A WNT3 AVPR2 PLG TRAF3IP1 COG6 PRDM16 FGFR2 STOX1 LAMB2 C8ORF37 NDUFS7 TALDO1 NUBPL DYNC2H1 RPGRIP1 APC CLCN5 EXT2 ALX4 NDUFB3 NUP133 GPC3 HMGA2 LRP4 RERE MAD2L2 DCDC2 PNPLA6 SKI TMEM237 PIK3CA POR PGM3 DCC WT1 VHL PIK3CA TRNW POMT2 RTTN PLD1 F5 FOXF1 CHST14 SDHC DCLRE1C TLR4 WT1 RAB3GAP1 FANCB B3GALT6 SF3B4 HBB F8 FGFR3 ZNF148 ANOS1 COPB2 NDUFV1 ABCC6 PEX6 STAT4 LMX1B FAT4 HPRT1 METTL5 COX14 UBAC2 THOC6 PAX2 COL4A3 TTC8 SCN1B TMEM138 CHD7 RBM8A NCAPD3 CFHR3 PLCD1 POMT1 PRKCSH BNC2 ALPL SNAP29 BICC1 RECQL4 THOC6 TRNL1 PEX5 SRC CEP55 IFT27 PRPS1 JAG1 GDF6 EMP2 FIP1L1 TP53RK FLCN ND5 APC NDNF AVIL ACSL4 NPHS1 NAA10 ND6 EP300 LZTFL1 CTNNB1 PTH1R INPP5E MAP3K7 RPS29 DYNC2I2 ACTG2 ERCC4 DNASE1L3 NDUFAF1 C1QC SEC61A1 SLC25A11 GNAS RET FLII CPT2 ATP6 DHCR24 HSD11B2 WASHC5 COA8 TCTN2 GANAB TMEM67 CD46 VPS33A NEU1 PIGQ ITGB4 INS HLA-B
Protein Mutations 4
C282T C677T K55R Y93H