SNPMiner Trials by Shray Alag


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Report for SNP rs7903146

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 6 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 Patients Undergoing Coronary Angiography
MeSH: Coronary Artery Disease Myocardial Ischemia Coronary Disease
HPO: Coronary artery atherosclerosis

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 Cystic Fibrosis Genetic: Blood or Saliva Sample Collection 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 IGT - Impaired Glucose Tolerance T2D Diagnostic Test: Oral Glucose Tolerance Test Diagnostic Test: Hyperglycemic Clamp Diagnostic Test: Isoglycemic Intravenous Glucose Test 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 Hyperglycaemia (Diabetic) Type 2 Diabetes Mellitus Drug: Globalagliatin Hydrochloride 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 Type2 Diabetes Glucose, High Blood Other: Mediterranean Diet 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 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


HPO Nodes


Postprandial hyperglycemia
Genes 11
GABRA3 SCN4A KCNE3 CACNA1S CACNA1S KCNJ18 INSR INSR SHPK GYS2 GYS2
Type II diabetes mellitus
Genes 182
SNRPN USH2A PDE6A IDH3A LIPC SNORD116-1 GTF2I GCGR C8ORF37 BAZ1B PCARE TRNH RP1 PRPF6 LMNA IPW IFT88 PDE6B ZNF408 ABCC8 RGR TTC8 PROM1 PDX1 AR ND4 NPAP1 HGSNAT NEK2 RFC2 CA4 KLF11 SEMA4A BEST1 TRNL1 RHO IDH3B MKRN3 SCAPER PPARG PCNT PEX10 TUB XRCC4 SNRNP200 SLC2A2 CEP19 CRB1 ABCA4 EYS MAPK8IP1 TRNQ TCF7L2 POLR3A RP9 GTF2IRD1 TRNE FBN1 PRPF4 AKT2 ZNF513 ARL6 TRNS2 RDH12 CRX STUB1 ARL3 NEUROD1 KLHL7 RBP3 SPINK1 NR2E3 ALMS1 TRNS1 KCNJ11 LIMK1 INSR HNF1A ARL2BP BRAF RPE65 AHR PWRN1 GLRX5 PRPF31 MAK PNPLA6 PRCD RLBP1 HNF1B AHI1 IMPDH1 TRNK AGBL5 TRNL1 TULP1 DHX38 GPD2 HMGA1 ATM NDN COX1 FAM161A NRL DHDDS CDHR1 MAGEL2 MKRN3-AS1 CLIP2 CTNNB1 AIP TRNF SLC12A3 IFT140 SLC30A8 RP2 POLA1 ND1 REEP6 IMPG2 ELN PWAR1 LIG4 RETN BLM PDX1 CNGA1 TRNW COX3 IRS1 INSR ROM1 BBS2 PRPF3 GCK KIZ TBL2 COX2 WFS1 GCK PRPH2 LRAT ABCC8 SNORD115-1 PRPF8 SPATA7 ENPP1 GUCA1B MEN1 IRS2 MERTK POMGNT1 HNF4A WRN ND6 HNF1A PTPN1 PPP1R3A CERKL CLRN1 PAX4 SLC7A14 KIAA1549 MC4R IGF2BP2 PDE6G ARHGEF18 SAG MOG AMACR TOPORS MTNR1B CLCNKB ND5 PLCD1 OFD1 FSCN2 IFT172 HERC2 CYP19A1 RPGR CNGB1
Diabetes mellitus
Genes 523
PDE6A IDH3A UBR1 IER3IP1 SPINK1 HNF1B PCARE ND1 OPA1 RP1 AGPAT2 TRNS1 MMP2 TTC8 PDX1 TGIF1 TREX1 CDON CFTR MKRN3 GCK INS PPARG HYMAI COX2 XRCC4 SNRNP200 NUBPL PTRH2 CEP19 NDUFB10 PROKR2 EYS LMNA TRNQ MAPK8IP1 LEPR TCF7L2 NSMCE2 PRPF4 ARL6 RDH12 ARL3 FGF8 GCK KDSR CEL DISP1 NR2E3 NDUFAF5 ARL2BP ERGIC1 PLAGL1 PRPF31 PNPLA6 NDUFV2 COX3 PRCD RLBP1 WFS1 KLF11 TRNL1 PDX1 NDUFA11 BLK KCNJ11 GPD2 SLC19A2 DHDDS MLXIPL LEP CLIP2 BMP2 BRCA2 TRNF IFT140 LMNA RP2 REEP6 NDUFS2 PDX1 PDE4D LIG4 RETN CNGA1 GLI2 NDP PNPLA2 EDA CYTB LHX1 PRSS1 NPM1 IFIH1 TBL2 ALMS1 GCK PRPH2 HAMP DCAF17 ABCC8 SNORD115-1 PRPF8 ENPP1 GUCA1B MEN1 MST1 NEUROD1 POMGNT1 HNF4A PTPN1 PPP1R3A FXN AIP KIAA1549 IGF2BP2 NKX2-5 EIF2S3 COX1 SLC29A3 ND5 SUFU CDKN2A HERC2 FXN CYP19A1 STAT3 MKKS SOX2 LIPC INSR GTF2I TDGF1 GCGR HMGA2 TWNK HFE TRNH HLA-DRB1 CORIN PRPF6 ZNF408 FGFR1 PROM1 FOS ZMPSTE24 PEX1 CPA1 HNF4A NPAP1 NDUFAF3 DLL1 BEST1 TRNK TRNL1 POLG CAV1 XRCC4 ND2 TUB CP SLC2A2 KRAS EFL1 NDUFS1 HNF1A SIX3 POLR3A RP9 TRNE AKT2 NODAL PPARG XRCC4 ND1 NDUFS4 GATA6 WRN DCAF17 TTC7A AKT2 RBP3 POC1A PAX4 RTEL1 NDUFA6 TRNS1 KCNJ11 INSR GJB3 INS CASR USP8 MAK FOXC2 FOXP3 HNF1B GATA3 IMPDH1 APOA5 LIPE TRNL1 LEMD3 IL6 PRKAR1A FGFR1 NDN COX1 FAM161A HESX1 INSR NRL NDUFS6 ABCC8 TRNC CFTR GJA1 PRKACA NDUFB9 TRNW COX3 TTPA GPR101 PLAGL1 TIMMDC1 GJA1 WRAP53 RNASEH2A HNF4A COX2 PAX4 FOXRED1 PAX4 DKC1 RRM2B SMAD4 BLK TMEM126B ND5 NDUFAF1 FLT1 KCNJ11 MAFA GATA6 IL2RA CLCNKB NDUFAF2 CTRC PPARG OFD1 IFT172 SPINK1 PRKAR1A RPGR ATM SNORD116-1 OTX2 NDUFA1 ZFYVE26 NDUFB3 BAZ1B PRSS2 BSCL2 ABCC8 INS WFS1 IFT88 PDE6B GAS1 ABCC8 ABCC8 RGR PALLD ND4 STOX1 GNAS NEK2 RFC2 CA4 HYMAI CTRC LIPE RHO MMP14 SCAPER NOP10 ITPR3 GCK SLC19A2 NHP2 HNF1B CRB1 PEX6 TWNK TRNQ NEUROD1 GTF2IRD1 ABCC8 ND6 DNAJC3 POLD1 GJB4 SPINK1 PARN BSCL2 VANGL1 SLC29A3 PDE11A PTPN22 PTF1A BRAF AHR PWRN1 HYMAI TRNV GLRX5 USB1 HLA-DQB1 ITCH SBDS TRNK GPR35 PRSS2 PROK2 STAT1 NSMCE2 CTNS PIK3R1 NDUFAF4 CDHR1 ZFP57 ATP6 TRNW PTF1A CTNNB1 AIP EIF2AK3 POLA1 GCK TRNE ELN NEUROG3 CISD2 GLIS3 DNAJC21 CAVIN1 ELMO2 PTCH1 ROM1 ZFP57 BBS2 LEPR LRP6 KCNJ11 PRKACA PRPF3 SLC25A4 DNM1L GCK HJV LRAT WFS1 HNF1B TP53 PNPLA2 ELN IRS2 NDUFV1 ND6 PRSS1 CERKL CLRN1 PPARG BBS2 MOG TOPORS ARNT2 FOXH1 RAC1 HNF4A PLIN1 TP53 TRNF NDUFB11 EIF2AK3 CFTR SNRPN USH2A KCNJ11 HNF1A STAT3 C8ORF37 APOE FUZ LMNB2 IGF1R TRNS2 LMNA IPW POLG2 PDX1 TERC SLC16A2 INS CAV1 NDUFS7 AR LMNA HGSNAT KLF11 SEMA4A FOXP3 CIDEC CTC1 PLIN1 IDH3B PCNT PEX10 GCK SPINK1 APPL1 HNF1A ZIC2 ABCA4 FBN1 ZNF513 TRNS2 CRX STUB1 NEUROD1 KLHL7 CISD2 PSTPIP1 ALMS1 LMNA PDX1 LIMK1 HNF1A RPE65 BRCA1 RNASEH2B CCDC28B STAT1 AHI1 AIRE ARMC5 NDUFS3 AGBL5 PDE4D TULP1 SHH DHX38 IL2RA HMGA1 CEL NDUFS8 ATM DNAJC3 INS MAGEL2 HNF1A EDA2R HFE MKRN3-AS1 SLC12A3 SLC30A8 UBR1 ND1 IMPG2 KCNJ11 PWAR1 CNOT1 ADAR BLM PDE8B PDX1 HNF4A IRS1 RNASEH2C INSR PIK3R1 CDH23 BBS1 TCF4 ZMPSTE24 ZBTB20 KIZ TINF2 KCTD1 WFS1 SRP54 APPL1 ND3 WFS1 PRSS1 SPATA7 AGPAT2 HBB MERTK WRN KCNJ11 PALB2 HNF1A LMNA PAX4 SARS2 SLC7A14 SOX3 MC4R PDE6G LMNA ARHGEF18 SAG AMACR MTNR1B CP CNBP PLCD1 CTRC FSCN2 TERT SAMHD1 CNGB1
Abnormality of the kidney
Genes 1660
GPC3 UBR1 FAT4 GLI3 IL17RA SOX9 STRA6 CASP10 PIGL PLCE1 SDCCAG8 KRT17 GLI1 SDHD COL4A4 LRP4 NDUFB10 LMNA FAT4 FGF8 WAS TXNL4A ROR2 CTU2 REN ENPP1 PLG LRP5 HSD11B2 GBA RAB23 AXIN2 DYNC2LI1 WDR19 SPRY2 ASXL1 PNPLA6 PIGV TBX1 NPHP4 TMEM67 CFH BLK MYO1E ZFPM2 SPINK5 HIRA GBE1 ALG9 WDR60 CFHR5 MCTP2 BUB1B LHX1 BCOR HLA-DPB1 KAT6B PET100 MEFV SF3B4 SSR4 IL10 PYCR2 CDK6 WDR73 SLC36A2 YAP1 PIK3C2A B3GLCT FCGR2A COG6 B9D2 IGF2 OGG1 ITGB4 HPRT1 IFT27 NUP205 COQ8B CWC27 RNU4ATAC LDLRAP1 GTF2I CCNQ SLC25A22 RPGRIP1L ZNF687 COA8 FAM20C RPS26 ACVRL1 VPS33B COPB2 GABBR2 RECQL4 CYP4F22 DLL1 ITGA2B ND4 CCR6 ND2 DCHS1 C1R BBS7 KLLN OCRL SIX3 PEX6 TRNE CD81 CHD7 CRB2 BRCA1 WDR35 ETFB MARS1 FLNB DVL1 LETM1 MAP2K2 HRAS WT1 NDUFB8 NEK8 GREB1L KCTD1 CEP41 ARID1B LRIG2 SERPINF2 GATA3 CC2D2A SDHB GPC4 XDH LDLR AR SAA1 MET ALG9 CLDN10 DUSP6 PACS1 SDHD EFEMP2 SMARCC2 AGGF1 MAP2K1 PIGA ESCO2 ITGA3 HNF1A CFI ALG1 RAD51C DNAJB11 DGKE MINPP1 APOA1 TTR KIF14 AFF4 FLNA ZAP70 WDR34 GLA MYH11 NDUFAF1 DYNC2LI1 KCNJ11 HYLS1 VHL ATP6 TTC21B RAD51C DDX59 RMRP FGA COL5A2 VAMP7 NDUFB3 APOB CCR1 SON PDE6D GP1BA KCNQ1OT1 STRA6 FANCD2 GAS1 KMT2D FAM20A ATRX RFC2 FAM20A WIPF1 TRNT CLDN19 PTH1R SLC37A4 TBC1D20 SRY TRNQ PTPN22 TRNN IL17F MEFV FIBP SCARB2 FANCI RPGRIP1L GP9 UMPS MKKS NSD2 MAP3K1 BSCL2 VANGL1 MAD2L2 PTPN22 SEMA3A SLC3A1 TMEM216 SCN2A OFD1 SMARCAL1 WDR4 UMOD GPR35 FGF10 FANCA COL4A4 HLA-DPA1 CD96 SLX4 STIL CEP290 TAPT1 CEP55 SIX5 MKS1 SCNN1A CEP83 FLNA BBS2 OSGEP PLVAP KMT2D LAMB2 PPP2R3C SMC1A TSC1 MICOS13 HNF1B TP53 FUT8 WT1 ZNF592 RFWD3 TMEM67 NPHP1 HLA-DRB1 BRAF BUB1 LPIN1 ELN TACR3 LRIG2 ITGB3 EMP2 PDSS2 NDUFV1 FREM2 SMOC1 LIPN PLD1 SLC2A2 FGFR3 ACSL4 PTPN11 SHANK3 KANSL1 ALPL SDHB PALB2 MYMK HNF1A KAT6A UMOD GPKOW SLC30A9 TREX1 WDR4 SNAP29 CCDC141 WASHC5 ND3 NPHP3 INS HPSE2 TSC2 NDUFS7 BUB1 CENPF SHH ERAP1 CEP290 COPA PEX12 EYA1 ANLN ZIC2 PLG SOX10 BRAF DLC1 ITGB3 FCGR2B ALMS1 NLRP3 ITGA8 PDX1 GANAB KDM6A NARS2 PQBP1 BBIP1 EVC CTLA4 AVPR2 TRNS1 H19 H19 BRCA2 AIRE NDUFS3 SDCCAG8 AKT1 CCND1 PBX1 HLA-DRB1 PGAP3 GPC4 ACP5 ARX CDC73 MAGI2 PEX16 ND1 IFT27 AHI1 OCRL RAB3GAP1 BBS1 TMEM127 TCF4 ARID2 NPHP1 PEX2 PIK3CA FRAS1 PIK3CA RAB3GAP2 CASR ETFDH WDR19 SF3B4 APPL1 FLII ACTN4 C1QA C4A FKRP AGPAT2 IQCB1 USP9X FANCC COLEC11 NIPAL4 WRN MEFV PKHD1 ZNF423 NTNG1 KIF1B TRNT1 PEX13 MMUT UBE2T DACT1 PEX1 DZIP1L ND5 SBDS ADGRG2 ABCG8 B2M RAI1 GATA4 LAGE3 NLRP3 BRCA2 ANOS1 IQSEC2 PKD1 SLC6A19 CYB561 WT1 CASR NUBPL MYLK TCTN3 TMEM216 TMEM231 STXBP1 NPHP4 CC2D2A IRF2BP2 KCNA1 KEAP1 SEC63 WT1 KYNU ERCC4 KCNJ5 OCRL FLNA VIPAS39 SOX4 PAX6 GLI3 CDKL5 SCNN1G SCNN1B FOXF1 INPP5E YAP1 RPGRIP1L POU6F2 CAMKMT NDUFA11 SIX5 SLC4A4 H19-ICR PORCN SLC7A7 TRIM28 CDKL5 GP1BA SI PUF60 GLIS2 GDF6 FIP1L1 NDUFS2 PIGW BMPER TMEM107 MAP3K7 COL5A1 TMEM216 AMMECR1 TBC1D24 COX20 IFT43 COG7 FANCI FAH SEC24C IL2RG CCND1 NUMA1 H19 NRAS FLI1 FGFR1 CA2 PAFAH1B1 CACNA1D NAA10 MKKS SOX11 REST TDGF1 HMGA2 GALNT3 PEX14 CORIN FANCA PRDM16 FOS BBS10 ARL3 GEMIN4 NDUFAF3 PIEZO2 TRIP11 HBB CAV1 STS FANCB RARB TBX15 MMUT ANTXR1 POLR3A BCOR SMAD4 UMOD LCAT EDNRB NOTCH2 SEMA3E ADAMTS13 PRKCSH AMMECR1 FASTKD2 SIX1 NDUFA6 SPP1 ALG8 GCM2 RPGRIP1 ATP7B CEP63 PEX1 KCNE5 ALDOB TRIM28 RPGRIP1L SNAI2 CCN2 FGFR2 TMEM231 GRHPR CPT2 FKTN LEMD3 PTPN22 COX1 COL14A1 ZEB2 WT1 CFTR KCNQ1OT1 C4A COQ7 TMEM237 CLDN19 FANCC EVC2 NDUFB9 LPIN2 RREB1 PDSS2 STK11 HESX1 PLAGL1 APC MYT1 CCDC22 GRHPR SCO1 SLC4A1 GDF3 RET PIGY TRIM32 PRKCD GSN PHYH COX10 TMEM126B DYNC2H1 FLT1 ADA BUB1B KNL1 CPLANE1 IFT43 CDC73 CLCNKB TREX1 PRTN3 COL3A1 FXYD2 FLNA BMPER MBTPS2 APC APC2 MME FOXI1 DYNC2H1 BBS9 WNT5A NDUFA1 NSD1 PEX7 NPHP4 TRNW RPL11 FLNB ND6 ABCC8 WDR35 FANCB TRNV ND4 INF2 GNAS WASHC5 SLC49A4 NDUFAF3 COL4A1 APRT ITPR3 ETFA ARHGDIA TACO1 SEC61A1 HNF1B CLCN5 TBX1 NEUROD1 ACTG2 NADK2 MSH3 GTF2IRD1 RAI1 SALL4 PML CACNA1S IFT140 GATA3 C1QBP NBN MAPKBP1 SPECC1L ADCY10 BMP4 PLCD1 SETD5 HPRT1 TMEM237 F10 MLH1 MUC1 AMER1 KIAA0753 TP53RK MAP3K7 NDUFAF4 HMGA2 HS6ST1 KDM6A CLCN5 FBXL4 ROR2 USP8 PGAP2 WNT4 KANK2 GLIS3 WDR34 CAVIN1 BNC2 GBA CFI SIX1 ZFP57 KCNJ11 FANCE FANCM MAX CASR RNF139 RAF1 NCAPD3 MAGED2 ZNF423 FLNA CFI HNF1B PGM3 AAGAB IL12A CYP11B2 ELP1 VHL FLCN SLC37A4 DZIP1L PIGN NCAPG2 SLC22A12 FH CLCNKB LRP5 CRTAP RBM10 NDUFB11 NDUFAF3 FAT4 IFT172 LRP2 DYNC2H1 TFAP2A INF2 STAT3 PTPN22 TRIP13 AKT1 ALOXE3 SGPL1 DHDDS SDHC TTC37 CTNS WDR35 GP1BB C1QB PDX1 EXT2 NUP107 SPART RRM2B OCLN ENPP1 FANCE COL4A3 PEX5 KCNJ10 PIGL RTTN MYO5B CYP27A1 BAP1 PAX2 PYGM WDR19 SETBP1 DCLRE1C RNU4ATAC FBN1 IL7R CEP290 PIGO COL4A5 PIK3CA NOD2 ADCY10 TMEM260 POR SLC2A9 MITF DYNC2LI1 NSD1 SLC35A2 TRNL1 WDR19 ITGB4 WAS SHH SMC1A NUP133 PGK1 NDUFS8 RET STAT4 GRIA3 IKZF1 HIC1 MYH9 KCNJ10 CACNA1D PCK2 RAD21 PEX19 HABP2 KLHL7 H19 CDC42 UBR1 HNF4A SCO2 ATP1A1 CPLANE1 ROBO2 TRAF3IP1 CDH23 WT1 NR0B1 ELP1 HSPA9 SLC3A1 POR KCTD1 DKC1 NUP133 ND3 IRAK1 GRIP1 MMUT ABCC6 MEFV UQCC2 SON KCNAB2 PTPRJ POLE ATRX B9D2 HOXA13 RBM8A PHF21A ATRX ARID1B CLPB HNF1B WDR34 RIPK4 TP63 HPSE2 NUP160 TRIM37 MBTPS2 STX3 AGPAT2 PORCN COQ2 FRAS1 LZTFL1 FH TGIF1 HMBS PHGDH C8ORF37 SALL1 WDPCP SCNN1B SLC25A11 PRKCD BBS4 COQ2 PIGA TMEM67 YY1AP1 NR5A1 CYP24A1 DICER1 CA2 IFT172 PMM2 NPHP3 GCK TTC21B DSTYK HGD PAH WDR73 GNAO1 ACTG1 NDUFAF5 SALL4 MKS1 NDUFV2 ALOX12B LAMB2 PREPL PAX2 WFS1 PPM1B INSL3 TRNL1 CEP290 HOXD13 COX8A EYA1 ALDH18A1 WDR19 WT1 WNT4 KAT6B PUF60 TCTN2 TRNF TBL1XR1 CLCN5 EP300 COX14 LIPT2 GLI2 ARX SLC1A1 DCC STRADA WT1 SLC6A20 PEX5 PTEN LEMD3 SNRPB C1QC BRCA2 GREB1L NOTCH3 CDKN1C ARVCF MST1 CFH TMEM237 B9D1 AQP2 PIGV TMEM127 SDHA IGF2 SULT2B1 CHST14 JMJD1C TFE3 PGAM2 ND5 FGF17 APC HSD17B4 NF1 CEP55 SDR9C7 TMEM138 SUFU ZIC3 SLITRK6 VDR TTC37 SHPK KIAA0586 TP53RK SMARCA4 NFIA BUB1B PEX2 BCS1L AIP HNF4A MOCS1 BCS1L MNX1 SDHB MEN1 XPNPEP3 CRB2 ERCC4 RMND1 LAGE3 VHL HNF1A FANCD2 NODAL XRCC4 ND1 NPHP1 CCNQ FGFR3 CHD4 PKHD1 ZIC3 KIF14 ITGA2B CTLA4 POMT2 PEX11B SDHD KRAS RAI1 ITGA8 INVS NPM1 SLX4 USP8 DVL3 CCDC141 NPHS1 DDX59 ACTG2 COL1A1 CHRM3 MDM2 IL6 HSPG2 FGFR1 BBS10 ABCC8 RERE MSH6 CCBE1 WDR60 PGM3 CEP135 MKKS BBS5 FANCL CLCNKA COX3 FOXF1 RBM10 IGF2 NUP93 SLC12A1 MASP1 POMT1 CDC73 PHEX INVS HLA-B MAFB COX2 ARX SOX9 DNAJC21 FAS BBS12 FREM2 OSTM1 IFT140 BTNL2 GPC3 SLC34A3 DNA2 TRIM8 PEX3 GDNF ACTB PTEN ZBTB16 GPC4 DICER1 PIK3CA ABCC6 PPARG KITLG SLC9A3R1 BCOR STAT5B NLRP3 SF3B4 COQ6 G6PC3 CSPP1 COL7A1 PHYH NPHP1 EPG5 SETD2 REN LIG4 MKKS POU3F4 STOX1 RFWD3 HYMAI NRIP1 HLA-B RAP1A CDK4 CPT2 GSN PCK1 ATN1 ALX4 FGFR3 SIK1 CEP164 SLC25A20 PIGL STAT4 ABCA12 XYLT2 CCBE1 FLNA AP2S1 PEX3 CFH RET PIGY LZTFL1 STAT1 KISS1R CASP10 RAD21 TRIP13 MYD88 GLA B3GLCT NOTCH2 FAN1 GLMN BSND RAP1B CC2D2A CLDN16 TMCO1 TNXB FGF20 THOC6 ENPP1 GCK ELN SMARCAL1 DNASE1L3 MCM5 FLCN MAX PALB2 MKS1 PKD2 CD46 DIS3L2 MITF TBCK RPL26 LMX1B PTPRO HDAC8 SPRY4 HOGA1 IL23R PIK3CA JAM3 ANOS1 NOTCH2 ND6 COG1 KYNU PROKR2 ADA ATP7A LMNA DLST ZAP70 UFD1 F2 EIF2AK3 STAT3 CC2D2A TMEM67 TGM1 APOE APOE WDPCP GNA11 RYR1 LMNB2 KCNJ10 SERPINH1 SDHAF2 RBM8A SOX9 CASK OFD1 APC PEX13 ESCO2 EHMT1 SASS6 TMEM231 TTC8 DMP1 CD2AP GCM2 TMEM70 TRRAP EYA1 KCNH1 TPRKB FAS DCDC2 TP63 TCTN2 SDHC APOL1 VPS33A LDHA DCC G6PC PRKAR1A THBD CISD2 TTC8 DCHS1 CHRM3 B9D1 AVPR2 RPS19 LRP4 NEK8 TFAP2A ARMC5 SLC12A3 FGFR2 TCTN3 PIK3R2 KMT2A CEL TP53 ARL6 MAP11 PAX1 TMEM216 TRIP13 AKT1 TMEM126B DPH1 SMARCB1 VAC14 TTC21B C8ORF37 TNXB SCARB2 PC DIS3L2 HNF4A NPHS2 NPHP3 WT1 COL4A3 TRNK WDR19 ADAMTSL1 PNKP UBAC2 AKT3 IL17RD RAG2 CTNNB1 NPHP1 CFTR CTNS ASPM AGT SARS2 RECQL4 ERCC8 MMACHC EBP PRKCSH CSPP1 FLCN STXBP1 TBC1D24 TMEM67 NIPBL CDON LYZ CDKN1C RASGRP1 FLRT3 CEP290 CENPJ BICC1 NSDHL DHCR7 TMEM231 NUP85 CTNNB1 CLCNKB WNT4 RPGRIP1L PEX19 ALG8 FGFR3 SOX10 FN1 DISP1 COX6B1 LMOD1 TPRKB TBC1D8B NOD2 CTH MFSD2A FANCF TBX18 ND2 KLF11 TAF13 SURF1 OPLAH IFIH1 WNT4 CILK1 MLXIPL BRAF CLIP2 DHCR24 POU6F2 SERPINA1 FLCN LARGE1 SH2B1 AGXT CDK5RAP2 CEP290 SHANK3 REST PGK1 NDUFS2 SDCCAG8 PRSS1 MSH2 SRP54 IFT172 TBL2 ALMS1 DNASE1 PLEC DMRT3 KRAS SLC17A5 NPHP3 CSPP1 IL12A-AS1 NABP1 TSC1 FH FANCG MEOX1 TCN2 DSTYK SFTPC PDE6D SLC29A3 B4GAT1 COMT CD151 SLC26A1 CLEC7A MCPH1 SKI WWOX HPRT1 GPC3 SRCAP WDR62 SLC7A7 IFT122 TBX22 APRT CLCN5 SPECC1L FLCN TRNH PEX10 ARID1A PIEZO2 PHC1 NUP107 CASR GP1BB CHN1 MAFB TRNL1 SOX17 BBS1 CPT1A KMT2A RAD51 FREM1 NDUFS1 GABRD FREM1 GP1BB SKIV2L WDR11 OSGEP MRPS22 DIS3L2 KIAA0753 NDUFS4 TRPC6 CD96 SC5D SDCCAG8 FANCB PAX4 SLC26A4 VHL NSMF NEK1 TRNS1 NPHP1 CAD OFD1 XRCC2 FOXC2 PEX10 FIG4 PCSK9 FBLN5 INTU GNA11 ANKS6 NIPBL WT1 COL4A1 IFT80 KCNJ1 HAAO VHL NDUFS6 HPRT1 HNRNPU ATP6V0A4 LMX1B CIT CDC73 TRNW PRCC YWHAE CDKN1B KYNU C1QA GDF6 TIMMDC1 TSC2 KLRC4 KIF1B DICER1 FOXRED1 ADAMTS3 PLG USP9X GLI3 RBBP8 WT1 POGZ WNT3 RSPO2 IFT80 CEP290 FANCB TMEM216 SMARCE1 FASLG PAX2 CREBBP SLC7A9 NDUFAF2 CTRC LTBP4 XYLT1 SPINK1 C3 PRDX1 WDR73 ERCC6 FGFR1 ANTXR1 TMEM67 DPF2 BAZ1B EHMT1 COA8 BSCL2 SLC34A1 INS KIF7 PROK2 NUP133 ABCC8 SMS NXN RERE IQCB1 DACT1 DLL4 ATRX CPT1A FGFR2 AQP2 IL17RC PIGQ ATP6V1B1 TMEM107 SMC3 FN1 CC2D2A CFB PTPN11 ARNT2 CPT2 ITGA2 RARA EP300 HELLPAR PMM2 PEX7 GNB1 MECP2 FOXG1 C3 IFNG MDH2 PIGP PRODH TRNK IRF5 ENG CTNS TALDO1 NPHP3 SLC4A1 ALDOB JAG1 DEAF1 NEUROD2 MAFB TSC1 EIF2AK3 H19 IGF2 OFD1 KCNQ1 ACE LMX1B GNB1 TRIM32 ANKLE2 PTCH1 PEX26 BUB3 COL25A1 AMMECR1 NAA10 SLC34A1 TRAF3IP2 TCTN3 WFS1 TRAF3IP1 LIG4 CEP120 ZNF148 SRY FEZF1 PREPL DNASE1L3 FAM149B1 FLNA HMOX1 SETBP1 MOCOS CEP164 FOXH1 MBTPS2 RAB18 HNF4A PIGN H19 HOGA1 CCND2 BBS12 TMEM138 ABCG5 CFHR1 GDF2 TSC2 KCNJ11 SOX18 NUP107 DHODH FUZ RAG1 TREX1 ERBB3 LMNA LMNB2 PEX1 SRC ARL6 PIGT FOXP3 ITGA6 PPP1R15B HDAC4 INPP5E SLC5A2 CHD7 PDGFRB ARL6IP6 CEP120 NSUN2 TRNS2 TMEM67 MED25 SLC34A1 TBX3 NELFA NPHS1 CAV1 HPS1 FOXE1 LIMK1 FGFR2 CCDC28B CFHR3 BBIP1 SC5D PTCH1 FAS PEX12 DHCR7 AGXT TMEM231 ND1 TLR4 PIGN PROKR2 SLC12A3 CD109 NRAS TBX1 CDKN1B CHD7 AGTR1 FGF8 SNRPB WNT3 FGFR2 MGME1 KLLN SLC3A1 PEX6 PPP3CA KIF14 SEC23B GPC3 CD46 ADA2 HRAS SEMA3E PRPS1 SALL1 CHD7 BRIP1 FANCL BBS4 COL4A3 SDHB CEP152 CIT CEP57 TBX1 PLCD1 CPT2 LEMD3 PIK3R2 MOCS2 IARS1 ABCC6
Coronary artery atherosclerosis
Genes 48
LMNA LDLRAP1 LDLR ACTA2 CYP7A1 FBN1 APOE APOB ESR1 MAT2A ABCA1 KCNJ5 ABCG8 MYH11 ZNF687 TGFB2 LMNA LMNA ELN LMNA LIPC PPARG LMNA FOXE3 SERPIND1 SMAD4 TGFBR2 SMPD1 MFAP5 ABCA1 APOB LMNA LOX SMAD3 MYH11 MYH11 LOX LMNA PCSK9 ACTA2 ABCG8 ZMPSTE24 TGFB3 PRKG1 TGFBR1 MYLK CEP19 ABCG5