SNPMiner Trials by Shray Alag


SNPMiner Trials: SNP Report


Report for SNP rs738409

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

There are 9 clinical trials

Clinical Trials


1 Reading Imperial Surrey Saturated Fat Cholesterol Intervention (RISSCI) Study. RISSCI-1 Blood Cholesterol Response Study

Raised blood cholesterol (also referred to as blood LDL-cholesterol) is a major risk factor for developing heart disease. Dietary saturated fat is recognised as the main dietary component responsible for raising blood LDL-cholesterol, and reducing its intake has been the mainstay of dietary guidelines for the prevention of heart disease for over 30 years. However, there is very little evidence for a direct link between the intake of saturated fat and risk of dying from heart disease. One explanation for this, is that the link between saturated fat intake and heart disease is not a direct one, but relies heavily on the ability of saturated fat to raise blood LDL-cholesterol levels. This LDL cholesterol-raising effect of saturated fat is complex, and highly variable between individuals because of differences in the metabolism of dietary fat and cholesterol between people. The main aim of this study is to measure the amount of variation in blood LDL-cholesterol in 150 healthy volunteers (75 at the University of Surrey and 75 at the University of Reading) in response to lowering the amount of saturated fat in the diet to the level recommended by the government for the prevention of heart disease. This collaborative project between the Universities of Reading, Surrey and Imperial ('RISSCI-1 Blood Cholesterol Response Study') will permit identification of two subgroups of men who show either a high or low LDL-cholesterol response to a reduction in dietary saturated intake. These participants (n=36) will be provided with an opportunity to participate in a similar follow-up study ('RISSCI-2') that will also take place at the University of Surrey and Reading. In this follow-up study, the participants will be asked to repeat a similar study protocol as for RISSCI-1, but undergo more detailed measurements to determine how saturated fat is metabolised in the body.

NCT03270527 Lipids Lipid Metabolism Healthy Other: High SFA diet (Diet 1) Other: Low SFA diet (Diet 2)

rs738409 C/G), eNOS.

Primary Outcomes

Measure: Changes in fasting total cholesterol (consisting of LDL-cholesterol and HDL) concentrations

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Secondary Outcomes

Measure: Fasting triacylglycerol

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL immune functions

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL anti-inflammatory and anti-oxidant (PON-1) properties

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: HDL capacity to promote cholesterol efflux (ex-vivo)

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fasting insulin, glucose

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Adhesion molecules, markers of vascular function

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Inflammatory markers & adipokines

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: LDL-R gene expression

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: Polymorphic genes with potential influence on the serum LDL response to dietary saturated fat, e.g.: ATP-binding cassette proteins (cholesterol efflux proteins) ABCG5 (e.g. C1950G) ABCG8 (e.g. D19H, C1895T), functional polymorphisms in the farnesoid X receptor (FXR) and bile acid transporters (e.g. solute carrier organics anion 1B1). Fatty acid desaturases (FADS1 and FADS2). The patatin-like phospholipase domain-containing protein (PNPLA3) (e.g. rs738409 C/G), eNOS. Lipid/cholesterol homeostasis: serum apolipoprotein genes: APOE (ε2,ε3,ε4 e.g. rs429358 and rs7412), APOA-I (e.g. -75G/A), APOA4 (e.g. 360-2), APOA5 (e.g. -113/T>:c), APOCIII, APOB (e.g. -516C/T). Lipase genes: (e.g. LPL, HL, MGLL). Lipoprotein receptor genes (e.g. pvu11 in the LDL receptor), lipid transfer proteins (e.g. CETP e.g Taq1B, MTP), and other polymorphic genes related to the absorption and metabolism of dietary fat and regulation of lipid/cholesterol homeostasis.

Measure: Other relevant genes involved in the absorption and metabolism of dietary fat

Time: Baseline

Description: Analyses conducted by Imperial College London

Measure: Metabolomic analysis for the determination of the low molecular weight metabolite profiles in the biological fluids

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Changes in faecal bacterial population

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: BMI will also be calculated (kg/ height in m^2)

Measure: Weight

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fat mass

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Fat free mass

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Waist circumference

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Hip circumference

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Measure: Blood pressure

Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Description: Measured via pulse wave assessment using the Mobil-O-graph device.

Measure: Fasting vascular stiffness

Time: baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)

Other Outcomes

Measure: Genotyping for apolipoprotein E to determine the impact of this genotype on changes in the primary and secondary outcome measurements in response to dietary fat intake

Time: Baseline

2 Genetical Background of Non-alcoholic Fatty Liver Disease (NAFLD) in Diabetes Mellitus and in Chronic Kidney Disease

The present study investigates relationship between non-alcoholic fatty liver disease and its risk factors, such as genetic background and diseases, such as chronic kidney disease and diabetes mellitus.

NCT02947568 Non-alcoholic Fatty Liver Disease Chronic Kidney Disease Diabetes Mellitus Other: non-interventional study
MeSH: Diabetes Mellitus Kidney Diseases Renal Insufficiency, Chronic Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO: Abnormality of the kidney Abnormality of the liver Chronic kidney disease Decreased liver function Diabetes mellitus Elevated hepatic transaminase Hepatic steatosis Nephropathy

In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined.

Primary Outcomes

Description: The association of hepatic steatosis with chronic kidney disease, diabetes mellitus and the the persence of these two will be assessed

Measure: Association of NFS (NAFLD fibrosis score) and HSI (hepatic steatosis index) with underlying conditions

Time: 2 years

Description: The association of hepatic steatosis with genetic factors will be assessed. In case of patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) : rs738409, rs2281135, rs2294918 single nuclear polimorfism (SNP) will be examined

Measure: Association of genetical factors with NFS and HSI

Time: 2 years

Secondary Outcomes

Description: The association of serum creatinine, eGFR, blood urea nitrogen, serum sodium, serum potassium, serum calcium with NFS and HSI will be assessed

Measure: Association of hepatic steatosis with renal function

Time: 2 years

Description: Association of HbA1C, fructosamine, blood glucose, serum insulin, HOMAIR, serum uric acid with NFS and HSI

Measure: Association of glucose metabolism parameters with hepaic steatosis indices

Time: 2 years

Description: Association of serum bilirubine, serum GOT, serum GPT, serum GGT, serum ALP, serum LDH, INR, serum total protein, serum albumin with NFS and HSI

Measure: Association of liver function and hepatic setatosis indices

Time: 2 years

Description: Association of serum total cholesterol, serum HDL-cholesterol, serum LDL-cholesterol, serum triglyceride, serum carnitine with NFS and HSI

Measure: Association of serum lipid profile and hepatic setatosis indices

Time: 2 years

Description: association of serum iron, serum transferrine, serum transferrine saturation, serum ferritine with NFS and HSI

Measure: Association of iron metabolism parameters with hepatic setatosis indices

Time: 2 years

Description: Association of blood count, erythrocyte sedimentation rate, CRP with NFS and HSI

Measure: The relationship between blood count, sedimentation and inflammation with hepatic setatosis indices

Time: 2 years

Description: association of urinary total protein, urinary albumin, urinary total protein/creatinine ratio, urinary albumin/creatinine ratio with NFS and HSI

Measure: Assotion of serum proteins with hepatic setatosis indices

Time: 2 years

Description: Association of serum meta-Tyr, serum ortho-Tyr, urinary meta-Tyr, urinary ortho-Tyr, urinary meta-Tyr/creatinine ratio, urinary ortho-Tyr/creatinine ratio with NFS and HSI

Measure: Association of pathological tyrosine isoforms with hepatic setatosis indices

Time: 2 years

3 Body Composition, Adiposity Phenotype, Metabolic Flexibility, and Gut Microbiota in PNPLA3 and TM6SF2 Gene Variant Carriers and Non-carriers With Nonalcoholic Fatty Liver Disease and Obesity. Effects of a Nutritional Intervention Combined to Exercise

Nonalcoholic fatty liver disease (NAFLD) is frequently associated with obesity. NAFLD genetic susceptibility involves Patatin Like Phospholipase Domain Containing 3 (PNPLA3) rs738409 and Transmembrane 6 Superfamily Member 2 (TM6SF2) rs58542926 polymorphisms. To date, biochemical mechanisms that affect the "metabolic flexibility" in obese NAFLD subjects, in presence or absence of genetic susceptibility, need to be better clarified. Different studies demonstrated that a dietary intervention, accompanied by a physical personalized training, significantly reduce either the hepatic fat content either insulin resistance in overweight and obese subjects, independently of weight loss. On these bases, the aim of the study is to evaluate "metabolic flexibility" in obese NAFLD subjects taking in account their genetics (presence or absence of PNPLA3 and TM6SF2 polymorphisms) and the histopathological diagnosis of either simple steatosis or nonalcoholic steatohepatitis (NASH). In addition, the composition of gut microbiota will be evaluated. Finally, in this study, two distinct healthy dietary profiles accompanied by a personalized physical training, will be tested in order to comprehend whether and how "healthy diets" could be effective not only in the prevention, but also in the clinical treatment of NAFLD and other related conditions.

NCT02951546 Non-alcoholic Fatty Liver Disease Obesity Dietary Supplement: Mediterranean diet Dietary Supplement: Low fat diet Other: Aerobic exercise
MeSH: Obesity Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis Obesity

NAFLD genetic susceptibility involves Patatin Like Phospholipase Domain Containing 3 (PNPLA3) rs738409 and Transmembrane 6 Superfamily Member 2 (TM6SF2) rs58542926 polymorphisms.

Primary Outcomes

Measure: metabolic flexibility variation in lipid profile;

Time: baseline and after 18 weeks

Measure: metabolic flexibility variation in glucidic profile

Time: baseline and after 18 weeks

4 NASH Fitness Intervention in Thrombosis Trial (NASHFit)

Nonalcoholic fatty liver disease (NAFLD) is the leading cause of chronic liver disease in the United States. The most advanced forms of NAFLD are associated with increased liver-related mortality and lower overall survival. The current standard of care for NAFLD is lifestyle changes through diet and exercise. The human genome and regulation of gene expression is influenced by physical activity. NAFLD is a prothrombotic state with derangements in all three phases of hemostasis leading to clinically important clotting events. Exercise can improve coagulation in healthy persons. In this proposal, we seek to begin a line of work to answer the question "Can lifestyle changes effectively mitigate the increased risk of clotting in patients with NAFLD?" focusing initially on the at-risk population genetically susceptible to advanced disease.

NCT03518294 Liver Diseases Blood Disorder Digestive System Disease Behavioral: Aerobic Exercise
MeSH: Liver Diseases Thrombosis Digestive System Diseases Gastrointestinal Diseases Hematologic Diseases
HPO: Abnormality of blood and blood-forming tissues Abnormality of the gastrointestinal tract Abnormality of the liver Decreased liver function Elevated hepatic transaminase

Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism.

Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism (GG, GC and CC genotypes) plays a crucial role in the development of NAFLD.

Primary Outcomes

Description: The primary outcome of interest is change in fibrinolysis as measured by PAI-1 level immediately following completion of the exercise program.

Measure: PAI-1 level

Time: 5 months

Secondary Outcomes

Description: hemostatic marker

Measure: Change in von williebrand factor (vWF)

Time: 5 months

Description: hemostatic marker

Measure: change in p-selection

Time: 5 months

Description: hemostatic marker

Measure: change in protein S

Time: 5 months

Description: hemostatic marker

Measure: change in factor VIII

Time: 5 months

Description: hemostatic marker

Measure: change in fibrinogen

Time: 5 months

Description: hemostatic marker

Measure: change in antithrombin

Time: 5 months

Description: hemostatic marker

Measure: change in protein C

Time: 5 months

Description: fibrosis marker

Measure: change in adiponectin

Time: 5 months

Description: genotyping subjects (GG, GC and CC genotypes)

Measure: Patatin like phospholipase-3 (PNPLA3) rs738409 polymorphism

Time: 5 months

Description: hemostatic marker

Measure: Change in PAI-1 stratified by PNPLA3 genotype

Time: 5 months

Description: measured by magnetic resonance imaging proton density fat fractionation (MRI-PDFF)

Measure: change in % hepatic fat

Time: 5 months

Description: hemostatic markers

Measure: correlation between VO2 max and hemostatic markers

Time: 5 months

Description: quality of life

Measure: health related quality of life (HRQOL) change

Time: 5 months

Description: fibrosis

Measure: change in hepatic fibrosis stage

Time: 5 months

5 Utilizing Non-Invasive Fibroscan® Technology to Identify Genetic Markers for Fatty Liver Progression

Non-alcoholic fatty liver disease (NAFLD) is a common disorder, affecting ~30% of people in the general population and up to 96% of obese individuals. Variations in several genes have been found to be associated with fatty liver, but these associations only explain a small percentage of the risk, and further studies are needed. In many cases NAFLD does not cause serious side effects, but in some individuals it progresses to scarring or hardening of the liver, liver failure, and cancer. The purpose of this research study is to determine if individuals who carry certain genetic variations in a gene related to bile and choline metabolism have an increased risk of fatty liver progressing to fibrosis, or scarring of the liver. This study will also use a new, non-invasive method called the FibroScan® to measure liver fat and liver stiffness. The FibroScan® device is FDA approved for use to measure liver stiffness, but not for the liver fat measurement. However, the FibroScan® instrument is considered a non-significant risk device. Since its induction in Europe and worldwide in 2003, there have been no adverse effects reported with this device.

NCT02267148 Non-alcoholic Fatty Liver Disease
MeSH: Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

As additional proof of principle that the measurements we are making correlate with genetics, the investigators will also measure two genetic variants that have been shown in many studies to correlate with liver fat and fibrosis by their research team and others: PNPLA3 rs738409 and rs2281135.

Primary Outcomes

Description: Measured by FibroScan® instrument

Measure: Liver stiffness measurement via transient elastography

Time: Study Day 1

Description: Measured using FibroScan® instrument

Measure: Liver fat measurement via Controlled Attenuation Parameter

Time: Study Day 1

Secondary Outcomes

Description: This is a calculated score which is a good predictor of liver disease

Measure: NAFLD-Fibrosis score

Time: Study Day 1

6 The Genetic Effect on Omega 3 Fatty Acid Supplementation for the Treatment of Non Alcoholic Fatty Liver Disease in Obese Children and Adolescents

To explore whether there is a different response to omega-3 fatty acid rich diet with respect to the hepatic fat fraction % (HFF), triglyceride, and ALT levels between the rs738409 minor allele (GG) and the common allele homozygous (CC) of PNPLA3. Hypothesis: We expect that subjects homozygous for the minor allele of the rs73049 SNP will lower their triglyceride, hepatic fat content, and ALT levels more with dietary intervention than the common allele homozygous supplementation.

NCT01556113 Non Alcoholic Fatty Liver Disease Steatohepatitis Hypertriglyceridemia Alanine Aminotransferase, Plasma Level of, Quantitative Trait Locus 1 Other: Omega diet
MeSH: Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Hypertriglyceridemia
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

Genetic Effect on Omega 3 Fatty Acids for the Treatment of Fatty Liver Disease To explore whether there is a different response to omega-3 fatty acid rich diet with respect to the hepatic fat fraction % (HFF), triglyceride, and ALT levels between the rs738409 minor allele (GG) and the common allele homozygous (CC) of PNPLA3.

Primary Outcomes

Description: subjects follow study designed meal plan

Measure: reduction in hepatic fat fraction

Time: 12 weeks

Secondary Outcomes

Description: subjects follow study designed meal plan

Measure: reduction in triglycerides

Time: 12 weeks

Description: subjects follow study designed meal plan

Measure: lower ALT levels

Time: 12 weeks

7 Effects of Overfeeding Followed by Weight Loss on Liver Fat Content and Adipose Tissue Inflammation

A. BACKGROUND Accumulation of fat in the liver due to non-alcoholic causes (NAFLD) is associated with hepatic insulin resistance, which impairs the ability of insulin to inhibit the production of glucose and VLDL . This leads to increases in serum glucose, insulin and triglyceride concentrations as well as hyperinsulinemia. Recent epidemiologic studies have shown that a major reason for the metabolic syndrome as well as the accompanying increased risk of cardiovascular disease and type 2 diabetes is overconsumption of simple sugars. The investigators have recently shown that overeating simple sugars (1000 extra calories/day, "CANDY" diet) increases liver fat content by 30% within 3 weeks (4), and recapitulates features of the metabolic syndrome such as hypertriglyceridemia and a low HDL cholesterol concentration. The fatty acids in intrahepatocellular triglycerides may originate from peripheral lipolysis, de novo lipogenesis, uptake of chylomicron remnants by the liver and from hepatic uptake of fatty acids released during intravascular hydrolysis of triglyceride-rich lipoproteins (the spillover pathway). A classic study using stable isotope methodology by the group of Elisabeth Parks showed that in subjects with NAFLD, the excess intrahepatocellular triglycerides originate from peripheral lipolysis and de novo lipogenesis. It is well-established that ingestion of a high carbohydrate as compared to high fat diet stimulates de novo lipogenesis in humans. Meta-analyses comparing isocaloric high fat and high carbohydrate diets have shown that high carbohydrate but not high fat diets increase increase serum triglycerides and lower HDL cholesterol. Since hypertriglyceridemia results from overproduction of VLDL from the liver, these data suggest the composition of the diet influences hepatic lipid metabolism. Whether this is because overfeeding fat leads to preferential deposition of fat in adipose tissue while high carbohydrate diets induce a relative greater increase in liver fat is unknown. There are no previous studies comparing effects of chronic overfeeding of fat as compared to carbohydrate on liver fat or and the sources of intrahepatic fatty acids. A common polymorphism in PNPLA3 at rs738409 (adiponutrin) gene is associated with a markedly increase liver fat content. This finding has been replicated in at least 20 studies across the world. The investigators have shown that PNPLA3 is regulated by the carbohydrate response element binding protein 1. Mice overexpressing the human I148M PNPLA3 variant in the liver exhibit an increase in liver triglycerides and cholesteryl esters on a high sucrose but not high fat diet. These data suggest that overfeeding a high carbohydrate as compared to a high fat diet may increase liver fat more in subjects carrying the I148M allele than in non-carriers. B. HYPOTHESIS The investigators hypothesize that overfeeding a high fat as compared to an isocaloric high carbohydrate diet influences the source of intrahepatocellular triglycerides. During a high fat diet, relatively more of intrahepatocellular triglycerides originate from peripheral lipolysis and less from DNL than during a high carbohydrate diet in the face of a similar increase in liver fat. It is also possible given the lack of previous overfeeding data comparing 2 different overfeeding diets that the high fat diet induces a smaller increase in liver fat than a high carbohydrate diet even in the face of an identical increase in caloric intake because a greater fraction of ingested fat is channeled to adipose tissue than the liver. The investigators also hypothesize that liver fat may increase more in carriers than non-carriers of the I148M variant in PNPLA3 during a high carbohydrate than a high fat diet. C. SPECIFIC AIMS The investigators wish to randomize, using the method of minimization (considers baseline age, BMI, gender, liver fat, PNPLA3 genotype) 40 non-diabetic subjects with NAFLD as determined by the non-invasive score developed in our laboratory or previous knowledge of liver fat content based on MRS to overeat either a high carbohydrate or high fat diet (1000 extra calories per day) for 3 weeks. Before and after the overfeeding diets, will measure liver fat content by 1H-MRS and the rate of adipose tissue lipolysis using doubly labeled water (DDW) and [1,1,2,3,3-2H5] glycerol as described in detail below. The investigators also wish to characterize glucose, insulin, fatty acid and triacylglyceride profiles before and while on the experimental diet. An adipose tissue biopsy is taken to determine whether expression of genes involved in lipogenesis or lipolysis, or those involved in adipose tissue inflammation change in response to overfeeding, and for measurement of LPL activity. After overfeeding, both groups will undergo weight loss to restore normal weight as described in our recent study. The metabolic study is repeated after weight loss.

NCT02133144 NAFLD Behavioral: overeating fat Behavioral: overeating carbohydrate
MeSH: Inflammation Weight Loss
HPO: Decreased body weight Weight loss

A common polymorphism in PNPLA3 at rs738409 (adiponutrin) gene is associated with a markedly increase liver fat content.

Primary Outcomes

Measure: Liver fat content (1H-MRS) and intra-abdominal and subcutaneous fat (MRI)

Time: 3 weeks

Description: the rate of DNL and adipose tissue lipolysis is measured using doubly labeled water (DDW) and [1,1,2,3,3-2H5] glycerol

Measure: De novo lipogenesis (DNL) and measurement of lipolysis

Time: 3 weeks

Secondary Outcomes

Description: Laboratory tests including fasting glucose, insulin, C-peptide, liver enzymes, total, LDL and HDL cholesterol and TG concentrations PNPLA3 genotyping is performed also

Measure: Analytical procedures

Time: 3 weeks

Other Outcomes

Description: Needle biopsies of abdominal subcutaneus tissue will be taken for subsequent isolation of RNA for measurements of gene expression (by quantitative PCR). Fat cell size is also measured.

Measure: Biopsies and analysis of subcutaneus adipose tissue

Time: 3 weeks

Description: Indirect calorimetry is the method by which metabolic rate is estimated from measurements of oxygen (O2) consumption and carbon dioxide (CO2) production.

Measure: Indirect calorimetry

Time: 3 week

8 Study of Metabolism Influence in Human Alcoholic Liver Disease

Increasing evidence attests the influence of multiple metabolic genetic risk factors in the progression of alcoholic liver disease. Deleterious pathways involved in metabolism such as lipid peroxidation and cytokines have been implicated in promoting inflammation leading to fibrosis increase and liver injury progression. The aim of this study was to assess the role of rs738409 single nucleotide polymorphism in the PNPLA3 gene in alcoholic liver disease patients.

NCT01122797 Alcoholic Liver Disease
MeSH: Liver Diseases Liver Diseases, Alcoholic
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase

The aim of this study was to assess the role of rs738409 single nucleotide polymorphism in the PNPLA3 gene in alcoholic liver disease patients.

After liver histology assessment for liver liver dammage a potential correlation of fibrosis and steatosis was studied with rs738409 PNPLA3 polymorphism.

Primary Outcomes

Description: After liver histology assessment for liver liver dammage a potential correlation of fibrosis and steatosis was studied with rs738409 PNPLA3 polymorphism

Measure: Assessment of fibrosis and steatosis by liver biopsy in alcoholic liver disease patients.

9 Molecular Investigation of Genetic Factors in CArDiovascular Diseases Using an BIOresource of Healthy Volunteers

The risk of cardiovascular disease is determined by the complex interplay between an individual's genetic make-up, lifestyle, and the environment. We are investigating three potential genetic risk factors in this observational, cross-sectional, epidemiology pilot study to investigate if and how functional variants identified in large-scale genome wide association studies can explain a predisposition to cardiovascular disease. By determining the molecular mechanisms that are regulated at the EDNRA, PNPLA3 and PROCR CVD risk loci, we hope to translate findings from this study into the clinical setting for better diagnosis, prevention and treatment for patients suffering with cardiovascular disease. Volunteers will enter into one of the study's three arms based on their genotype: EDNRA locus (Arm 1), PNPLA3 locus (Arm 2), or PROCR locus (Arm 3). Members of the Cambridge Bioresource who match for the target alleles will be invited to participate and will enter into one of the three study arms. All study assessment visits will take place at Addenbrooke's Hospital in collaboration with the University of Cambridge. Volunteers will participate in the study for a maximum of 12 months and depending on study arm they are assigned to, they will complete procedures including a medical, demographic and lifestyle factors questionnaire; height, weight and body fat assessments; in addition to blood pressure/heart rate measurements. Minimally invasive procedures including forearm blood flow and venepuncture will be performed to assess the primary objectives of the study. The hypothesis for arm 1 is that the genetic variant we are investigating at the EDNRA gene locus alters the function of the endothelin receptor A leading to an increased risk of coronary artery disease and large artery stroke. For study arm 2, we hypothesize that the genetic variant we are investigating in PNPLA3 will increase the risk of Non-alcoholic fatty liver disease but reduce the risk of Coronary Heart Disease. For study arm 3, we hypothesize that the genetic variant we are investigating in the PROCR locus triggers molecular events that potentially increase the risk of Venous Thrombosis/Venous Thromboembolism nut reducing blood pressure. Furthermore we aim to investigate the anti-inflammatory effects to see if there is an effect on explaining reduced risk of CHD. This study is funded from the BHF Cambridge Center of Excellence and the Wellcome Trust Institutional Strategic Support Fund.

NCT03038750 Cardiovascular Diseases Other: Eligibility and lifestyle restrictions check. Other: Medical history, demographic and lifestyle factors Other: Anthropometric measurements: height, weight, and body fat Other: Blood pressure and heart rate Other: Forearm blood flow: Visit 1 (EDNRA) Other: Forearm blood flow: Visit 2 (EDNRA) Other: Blood biochemistry (PNPLA3) Other: Blood EPCR function (PROCR) Other: Blood platelet coagulation and function (PROCR) Other: Blood endothelial permeability (PROCR) Other: Blood leukocyte-endothelium adhesion (PROCR) Other: Baseline Venepuncture (PNPLA3, Visit 1) Other: Deuterium water - Loading dose 1 (PNPLA3, Visit 1) Other: Deuterium water - Loading dose 2 (PNPLA3, Visit 1) Other: Energy-balanced dinner (PNPLA3, Visit 1) Other: Fasting venepuncture (PNPLA3, Visit 2) Other: Deuterium water - Maintenance dose (PNPLA3, Visit 2) Other: Consumption of high carbohydrate meal (PNPLA3, Visit 2) Other: Postprandial Venepuncture (PNPLA3, Visit 2) Other: Venepuncture (PROCR)
MeSH: Cardiovascular Diseases
HPO: Abnormality of the cardiovascular system

If they are homozygous for the G-allele, they are assigned to the 'control' group - Arm 2: The G-allele of rs738409, they are assigned to the 'case' group.

Primary Outcomes

Description: Arm 1 specific measurement to be measured using venous occlusion plethysmography. Outcome measure will compare results between case vs control groups.

Measure: Forearm Blood Flow (Arterial contractility)

Time: 2 years

Description: Arm 2 specific measurement collectively comparing the lipid dynamic results between case vs control groups.

Measure: Blood Biochemistry (Lipoprotein composition/dynamics)

Time: 2 years

Description: Arm 3 specific measurement comparing results between case vs control groups.

Measure: EPCR levels/shedding

Time: 2 years

Description: Arm 3 specific measurement to be measured by platelet coagulation function assay comparing results between case vs control groups.

Measure: Platelet aggregation/function

Time: 2 years

Description: Arm 3 specific measurement to be measured by an endothelial permeability assay comparing results between case vs control groups.

Measure: Endothelial permeability

Time: 2 years

Description: Arm 3 specific measurement to be measured by a leukocyte-endothelium adhesion assay comparing results between case vs control groups.

Measure: Leukocyte-endothelium adhesion

Time: 2 years

Secondary Outcomes

Description: All study arms comparing results between case vs control groups.

Measure: Blood pressure

Time: 2 years

Description: All study arms comparing results between case vs control groups.

Measure: Heart rate

Time: 2 years


HPO Nodes


Abnormality of the liver
Genes 848
MKKS TACO1 GLRX5 ABCA1 SLC29A3 BRIP1 LZTR1 ERCC4 ERCC6 ZMPSTE24 MAN2B1 ACADL ACADM ACADVL ACAT1 DNAJC19 MARS ACOX1 NCF1 TMEM216 ETFA ETFB ETFDH SCYL1 TCIRG1 DHDDS MCM4 IKZF1 RPS20 EWSR1 CD46 EXTL3 RRAS ACVRL1 RREB1 ADA ADAR F5 IL17F MECP2 IFT43 MEFV STN1 AXIN1 MEN1 FANCA FANCC FANCD2 FANCE ADK ARL6 FAH TTC8 MET FANCB FANCF FANCG SAA1 FBN1 FBP1 SFTPA2 CIITA SC5D COG6 ARHGAP31 FDX2 AGA AGL JAG1 RNASEH2C MIF FECH AHCY GPC4 WDR35 FGA MLH1 SCO1 CC2D2A ANTXR1 AKT2 NOP10 ALAS2 FGFR2 IFT80 MAD2L2 FH TRMT5 ALDOA DOCK6 ALDOB SLC30A10 SEC23B SDHA FOXF1 SDHB SDHC SDHD DUOXA2 MPI MPL MPV17 FLI1 COG2 KLF11 DCDC2 CLCA4 ANK1 OFD1 OSTM1 SLC25A4 RNASEH2A SFTPC CTC1 ACAD9 SGSH FOS PEX3 CEP290 AGPAT2 DOLK IYD LARS KCNAB2 BBIP1 APC AIRE XIAP SLC39A4 APOA1 NPC2 APOB MSH2 CHD7 FASTKD2 APOC2 TMEM107 APOE CCDC115 TARS2 FANCM SKI AP3B1 FAS NHP2 SKIV2L FASLG SLCO1B1 COA8 SLC2A1 CEP164 PEX26 COG8 RBCK1 SLC4A1 CASK FAN1 WDR19 SLC5A5 MST1 TRMU NBAS HSD3B7 LIPT1 MLH3 VIPAS39 NPHP3 TNFSF11 ARSA ARSB ATP6 GPIHBP1 UBE2T G6PC3 ARVCF KLF1 DYNC2LI1 TRIM32 ASAH1 SLC20A2 SLC25A1 RFXANK SLCO2A1 ASL CIDEC ND1 ND2 SLC22A5 ND3 ND4 ND5 ASS1 ND6 PTRH2 B9D1 ABCB11 DDRGK1 MPC1 TRNE C11ORF95 SMPD1 IFT122 FUCA1 TRNK TRNL1 ATM NGLY1 HAMP RERE TRNN TRNS1 OCLN TRNV TRNW STX11 PRDM16 BBS12 G6PC G6PD SLC37A4 PALLD TRIM37 SLX4 MMUT GAA H19 ALDH7A1 MVK INVS SON SOS1 SOS2 MYC GABRD TRAF3IP2 MYD88 SOX10 UBR1 ATP6V1B2 DNAJB11 INTU MYH9 ANKS6 GALE EOGT GALK1 ATP6AP1 ATP7A DIS3L2 ATP7B GALNS GALT SPIB ATRX SPINK1 AUH TNFSF12 RTEL1 C15ORF41 TMEM165 SPTA1 SDCCAG8 DZIP1L SPTB B2M NAGA NAGLU AKR1D1 CPLX1 GATA2 GATA6 FADD GBA BBS1 BBS2 GBE1 BBS4 SRP54 FGFRL1 UNC13D GCDH NCF2 NCF4 GCGR GCK TNFRSF11A PEX11B GNMT GDF2 ADA2 BCS1L BBS9 DPM1 DPM2 NAGS HESX1 NDUFS4 STAT1 NOD2 BLK BLVRA IFIH1 CDAN1 STK11 NEK1 BMPR1A STX1A NEU1 NEUROD1 GANAB PNPLA6 BPGM STXBP2 GPC3 BRCA1 GLB1 BRAF BRCA2 BTD ABCC8 SURF1 NFKB1 SUMF1 BTK NFKB2 VPS13A C1QBP C1S C4B BMPER GNAS SEMA4A COX4I2 KCNQ1OT1 TALDO1 MYRF AP3D1 GNS ABCG5 ABCG8 NOTCH1 TBX1 ALG1 NOTCH2 CA2 GP1BB NPC1 GPD1 NPHP1 GPI IFT27 TCF4 HNF1A HNF1B TCF3 SLC25A20 RPGRIP1L SLC11A2 NRAS CALR GPR35 TMPRSS6 HGSNAT BAZ1B CASP8 CASP10 CASR IL17RC ADAMTS13 LMNB2 SPECC1L CAV1 BBS5 SLC7A7 TERC TERT TF CBS TFAM CLDN1 POLR3A KRIT1 TFR2 TG TGFB1 MMAA HAVCR2 TBX19 TGFBR2 B9D2 MSH6 GTF2I THRA THRB CD19 MS4A1 DCLRE1C CD27 CD28 GUSB GYPC BTNL2 SCARB2 GYS2 GUCY2D CD40LG TNFRSF13C LRRC8A TNFRSF13B CD70 PLPBP CD79A CD79B CD81 PARN HADHA MRPL3 PAX4 HADHB HADH TNFRSF1A TNFRSF1B SEC63 HBA1 HBA2 POLG2 SLC25A19 KAT6B HBB PC MMAB HBG1 PCCA HBG2 PCCB TNPO3 PCK1 PCK2 TP53 CEP19 COX14 XPR1 PIGM TPI1 CDKN1A HEXB PCSK1 CDKN1B CFH CDKN1C CDKN2A HFE TPO CDKN2B TPP2 CDKN2C H19-ICR TMEM67 USP18 TREX1 POU6F2 HK1 CEL TRHR HLA-B PDGFB PDGFRA MICOS13 PDGFRL PDGFRB VPS45 AMACR CTSC HLA-DRB1 SLC26A4 CFTR PEPD BLNK CTRC PEX1 CLEC7A PEX6 DNAJC21 DPM3 PEX10 HMBS PEX12 PEX13 PEX14 TSC1 TSC2 HMGCL TSHB ATP8B1 TSHR HMGCS2 HMOX1 PFKM HNF4A TRIP13 LYST HNRNPA1 HNRNPA2B1 NLRC4 PGM1 TUFM HIRA RNU4ATAC ABCB4 PHKA2 ERCC8 PHKB PHKG2 LONP1 SERPINA1 AP1S1 ICOS PIGA CLCN7 HOXD13 HPD PIK3CA PIK3R1 HPGD SHPK UCP2 RECQL4 UFD1 A2ML1 PKD1 SNX10 PKD2 PEX16 PKLR PKHD1 TJP2 CYP7B1 ALG8 PLAGL1 IL17RA UQCRC2 ABCC2 PLG UROD UROS HSD17B4 PLIN1 ALG6 EIF2AK3 COG4 VCP PMM2 HJV PMS1 VHL TRAPPC11 PMS2 KIF23 COMT CLIP2 DLL4 WHCR NSD2 NELFA INPP5E IARS POLD1 RRM2B POLG GNPTAB LZTFL1 COX6B1 WT1 POMC COX8A COX10 POU1F1 DUOX2 POU2AF1 COX15 CP TWNK CPA1 XK RFX6 SAMHD1 CPOX PPARG XRCC2 CPT1A XRCC4 IDS CPT2 GTF2IRD1 IDUA NSMCE2 CFI CR2 CTSA SP110 SLC40A1 ZAP70 ALG2 UGT1A1 IFNGR1 IGF2 IGF2R MMEL1 SEC24C LACC1 PRF1 NEK8 IGHM TTC37 IL21R SETBP1 IQCB1 RBPJ LPIN2 PRKAR1A NKX2-5 SLC13A5 APPL1 PRKCD CTBP1 CAVIN1 CTLA4 PRKCSH IGLL1 CTNS CTNNB1 GFM1 IL1RN IL2RA CTSK IL2RG IL6 NEUROG3 ADAMTSL2 IL7R PROP1 ATPAF2 CYBA CYBB CYC1 COX20 TET2 LDLRAP1 IL12A IL12RB1 PRSS1 PRSS2 IFT140 NDUFS7 PSAP TRAF3IP1 EARS2 CYP7A1 PET100 INS IFT172 CYP19A1 PIEZO1 INPPL1 CYBC1 MRPL44 CYP27A1 KIAA0586 VPS33A INSR PSMB4 TMEM199 PSMB8 PSMB9 PDX1 CD55 SLCO1B3 IRF5 DAXX NHLRC2 MCCC1 PTEN NPHP4 RNF43 PLEKHM1 DDOST ITK MKS1 HELLPAR FBXL4 FAM111B JAK2 JAK3 PTPN3 TRMT10C PTPN11 CEP120 PTPRC ALMS1 MOGS CLPB VPS33B TINF2 PAX8 CCDC47 KCNH1 DGUOK DHCR7 DHFR KCNJ11 TMEM70 PEX19 ABCD3 PEX2 PEX5 MFN2 KCNN4 DKC1 KCNQ1 DLD PYGL ATP11C RBM8A DMD RFT1 RMND1 TMEM231 DMPK CARS2 HYMAI KIT TNFSF15 DNASE1L3 RAB27A NR1H4 JAM3 PCSK9 FERMT3 FOXP3 RAD51 RAD51C RNASEH2B KRAS DPAGT1 RAF1 RAG1 RPGRIP1 RAG2 KRT6A KRT6B EFL1 KRT8 PNPLA2 B3GLCT ITCH KRT16 SRD5A3 LHX4 KRT17 RHBDF2 RASA2 WDR34 KRT18 USB1 GNE LYRM4 DYNC2H1 COG7 PIGS GLIS3 AGGF1 FARSB WDR60 MRPS16 FANCL RELA LHX3 LBR REST LCAT RFC2 WRAP53 TYMP BOLA3 RFX5 RFXAP LDLR JMJD1C WDPCP PALB2 LETM1 RHAG NLRP3 TSFM RFWD3 YARS2 BBS10 CEP55 ESCO2 RIT1 TTC7A SLC17A5 LHX1 RMRP MRPS7 RASGRP1 MLXIPL LIG4 LRPPRC LIMK1 LIPA LIPE ABHD5 IL36RN NDUFAF1 LMNA TRIM28 BBS7 SBDS FANCI IER3IP1 SLC25A13 ALG9 SLC25A15 SAR1B CEP83 TTC21B STEAP3 LRP5 BSCL2 ELN LTBP3 C8ORF37 DCTN4 TANGO2 SPRTN SH2D1A LYZ ENG EPCAM CSPP1 TBL2 CD96 EPB41 EPB42 SMAD4 TCTN2 ALG13
Hepatic steatosis
Genes 102
GABRD GPD1 HFE MPV17 LDLRAP1 TRAPPC11 HNF1B PNPLA2 ATP6AP1 ATP7B ZMPSTE24 ACADL ACADM ACADVL EARS2 LYRM4 DNAJC19 CYP7A1 MARS IARS ACAD9 POLD1 FOS ACOX1 RRM2B CYP19A1 POLG MRPL44 VPS33A AGPAT2 ETFA ETFB TMEM199 ETFDH LARS KCNAB2 FARSB COX15 APOB LMNB2 CAV1 MCCC1 APOE PPARG CPT1A XRCC4 TARS2 CPT2 SKI NSMCE2 TYMP HNF4A BCS1L HNRNPA1 CBS TFAM HNRNPA2B1 LDLR SLC40A1 COA8 DDOST PGM1 POLR3A ADK TRMU MRPS7 LRPPRC LIPA LIPE ABHD5 FBP1 NDUFAF1 LMNA ALMS1 CLPB COG6 DGUOK CIDEC SLC25A13 SAR1B SLC22A5 AKT2 CAVIN1 BSCL2 HADHA HADHB RERE HADH RMND1 HSD17B4 PLIN1 CARS2 ALDOB PRDM16 ABCG5 PCK1 ABCG8 PCK2 VCP PCSK9 CEP19 PMM2
Abnormality of the gastrointestinal tract
Genes 1220
MKKS GPHN EPHX1 UBA5 EPRS AARS ERBB2 SLC29A3 ERCC2 ABCA3 SF3B4 AMER1 BRIP1 ERCC4 ABL1 IRX5 ZMPSTE24 STUB1 STAG1 AICDA MAP1B MAPT PYROXD1 USP9X SMC1A ACOX1 RPS6KA3 NCF1 ACTA1 ACTA2 TMEM216 ACTB SLC6A19 MC1R LRRK2 KIAA0319L ZFP57 CD109 NAA10 ACTG2 TCIRG1 MMP21 DHDDS LAGE3 MCM6 RPS19 IKZF1 RPS20 EWSR1 KLHL41 EXT2 EXTL3 EYA1 ACVRL1 RREB1 MDM2 F2 COLQ ADAR GRHL2 F5 KCNK9 F7 MECP2 KLRC4 F9 F10 ADCY6 F11 F12 F13A1 MEFV MEIS2 ACOX2 F13B RYR1 MYORG STN1 AXIN1 ADD3 TBC1D24 AXIN2 BAP1 SPG21 MEN1 CDC45 MEOX1 FANCA FANCC FANCD2 GREB1L FANCE SHROOM4 GFI1B FAH MET FANCB DACT1 FANCF FANCG TUBB4A SAA1 ARID1B FBN1 PANK2 FBN2 DLC1 SALL1 SFTPA2 KITLG MGMT MBTPS2 CIITA ATXN1 COG6 ATXN2 ARHGAP31 FKTN ATXN7 ATXN8OS AGA JAG1 SCN3A MID1 SCN4A ARL13B MITF SCN8A AHCY GPC4 ATXN3 SCN9A WDR35 FGA FGB MLH1 CC2D2A KMT2A AK2 SFTPA1 FGF8 PLA2G6 AKT1 FGF12 NOP10 FGFR1 FGFR3 FGFR2 IFT80 MMP1 FGG MAD2L2 TP53RK FH PIBF1 TRMT5 DOCK6 ALDOB LTBP4 SLC30A10 SLC9A6 FOXG1 SEC23B SEC23A SDHA FOXF1 SDHB SDHC FOXC1 SDHD OPLAH MPI FOXE1 MPL MPZ FLI1 MRE11 FLII FLNA KLF11 SEMA3C FRAS1 BIN1 CLCA4 FBLN5 CCDC22 DEAF1 FMR1 HYOU1 NOP56 SLC25A4 CISD2 SFTPC CTC1 PTF1A PUF60 PPM1D FOS KLHL40 FLVCR1 PEX3 CEP290 CNTNAP1 AGPAT2 ARX FERMT1 SLC19A2 KCNAB2 APC ITGA8 ARFGEF2 TMEM138 SHH ELP1 AIRE FUZ NTNG1 XIAP SI SLC39A4 ALS2 NPC2 SPG11 CNKSR2 ARMC9 MSH2 CHD7 MSH3 ZSWIM6 POMT1 FXN OSGEP APP SIX1 SIX3 FANCM SKI PIGV FAS NHP2 SKIV2L FASLG SLCO1B1 GBA2 SLC1A2 AR ABCC6 SLC2A2 PEX26 ARF1 CYFIP2 TRAK1 SLC5A1 FAN1 PRKRA MSR1 SLC6A3 MST1 SLC6A8 SLC6A9 PACS1 HSD3B7 VAC14 ARL3 IARS2 MLH3 SLC9A3 NPHP3 PIEZO2 POLR3B ARSA SLC10A2 STS ATP6 GPIHBP1 SPINT2 DKK1 COX1 COX2 UBE2T COX3 ARVCF ASAH1 FARS2 SLC18A3 ASCL1 PDE8B SLC25A1 RFXANK TP63 SLCO2A1 FRG1 FLAD1 MTM1 TBK1 ND1 ND2 ND3 VPS35 ND4 ASPA ND5 ND6 SNAI2 DCHS1 NUP133 PTCH2 PTRH2 ANKRD11 MTTP B9D1 RSPO2 ABCB11 MRPS34 FLCN TRNE TRNF C11ORF95 FTL SMO TRNH TRNK TRNL1 ATM NGLY1 SNAP25 RERE FUS TRNQ TBC1D23 ATP1A3 TRNS1 SNCA TRNS2 C9ORF72 RNASEH1 TRNV TRNW SUFU ERMARD SNRPB ATP2A2 PRDM16 G6PC SLC37A4 PALLD SLX4 MUSK MEGF10 MUTYH H19 AFF4 DGAT1 MVK RAI1 SOD1 MGME1 MASP2 SON GABRB2 MYC SOX2 SOX3 GABRD SOX5 MYCN MYD88 SOX10 UBR1 MYF6 ATP6V1A INTU MYH7 MYH8 UPB1 MYH11 B4GALNT1 EOGT SETX EMC1 ATP7A DIS3L2 ATP7B WWOX MYLK SPG7 RIPK1 WDR4 SPIB ATRX SPINK1 KIF1A CHST14 MYO5B TNFSF12 RTEL1 ERAP1 MYO9A MYOD1 NEXMIF ZNF423 GJB6 B2M IQSEC2 BAAT SRC GAS1 HDAC8 AKR1D1 GATA1 CPLX1 GATA6 BARD1 GBA BBS1 SPART GBE1 SRP54 FGFRL1 NBN SIK1 NCF2 NCF4 SLC46A1 CCND1 GCH1 GCK POGZ PLXND1 COL25A1 NDUFA6 SSR4 PEX11B SRCAP NEB NDUFA9 GDF2 COQ2 BCR ADA2 NDUFB8 GDNF NDUFS1 GFI1 NDUFS2 GFPT1 NDUFS3 BDNF HESX1 FREM1 STAT1 STAT3 STAT4 SYNGAP1 SLC52A3 BLK BLM CBLIF TUBB6 NEFH CDKL5 FCSK STK11 TTBK2 NEK1 BMPR1A GJB1 GJB2 STX1A NEUROD1 NEUROD2 STX3 NF1 STXBP1 GLA GPC3 BRCA1 TMTC3 BRAF BRCA2 SYNJ1 PMPCA KLHL7 SQSTM1 GLI2 GLI3 ABCC8 SURF1 GLRA1 NFKB1 BTK GLRB NFKB2 MYPN NFKBIA BUB1 AFG3L2 VAMP1 BUB1B CFC1 VPS13A SERPING1 MYMK SMG9 HYLS1 SYT1 C1R GNA11 IRF2BPL KIAA0556 C4A CACNA1G ATP11A BCL10 MCEE ADAM17 GNAO1 GNAQ TAF1 GNAS SEMA4A DDHD2 COX4I2 STRA6 CAMTA1 FOXH1 PHOX2B MAP3K7 NODAL KCNQ1OT1 MYRF NONO NOS1 GNS PIGO NOTCH1 TBX1 NOTCH2 NOTCH3 TBCE GP1BA GP1BB TBP SPINK5 GP9 NPC1 NPHP1 NPHS1 CACNA1A TCF4 TBX3 HNF1A HNF1B TCF3 DNAJC13 RPGRIP1L CARMIL2 NRAS NEDD4L MLX TCOF1 NRTN SZT2 GPR35 CAMK2B NTHL1 HCN1 TMPRSS6 MYO1H NTRK2 DOK7 ROR2 NUP88 HGSNAT NR4A2 SLC19A3 BAZ1B CASP8 CASP10 TWIST2 MUC5B RIPK4 TDGF1 OCRL SYT2 SPECC1L CAV1 GRIN2D PSTPIP1 GRM1 SLC7A7 TEK TERC CHAMP1 SERPINH1 TERT NXN ATP13A2 CBS TFAP2A DICER1 OPA1 POLR3A SIX6 TGFB1 GRIP1 TGFB2 TGFB3 ORC1 TGFBR1 ORC4 TGFBR2 TGIF1 TARDBP LMOD3 MSH6 COL18A1 FCGR2C OTC CD3E KLLN CD3G OTX2 ERLIN2 GTF2I DPP9 LINGO1 ATAD1 CD19 MS4A1 MTMR14 DCLRE1C SMC3 GUCY1A1 GUCY2C IL12A-AS1 TK2 BTNL2 SCARB2 GYS2 TLR4 PAH SLC6A5 CHEK2 TREM2 PAK1 TNFRSF13C LRRC8A TNFRSF13B MACF1 CD79A CD79B CD81 WDR73 ZFYVE26 PARN HABP2 PAX3 PAX4 TNFAIP3 LRBA TNFRSF1A CDC6 SEC63 BUB3 POLG2 KAT6B HBB CDH1 AGRN HCCS TNXB PIK3R5 TNPO3 CDH11 DISP1 TOP3A TP53 PCNA HTT CDK4 HELLS LARGE1 CHMP1A VAPB TPM2 CDKN1A PCSK1 TPM3 CDKN1B CDKN1C PIGN CDKN2A HFE CDKN2B CDKN2C CDKN2D H19-ICR TMEM67 TREX1 ASXL1 POU6F2 HIVEP2 CRLF1 REPS1 CEL HLA-B PDGFRA PDGFRL MNX1 CENPF PDGFRB LEMD3 HLA-DPA1 ORC6 HLA-DPB1 HLA-DQA1 HLA-DQB1 ENPP1 AMACR HLA-DRB1 CFTR GDF6 BLNK SLC5A7 PEX1 PEX6 DNAJC21 PEX10 HMBS PEX12 PEX13 PEX14 CHAT TSC1 TSC2 CHD4 NUP62 ATP8B1 WNT4 TSPYL1 PFN1 CHN1 HNF4A TRIP13 ATXN8 LYST CHRM3 TRIP4 CHRNA1 TERF2IP NLRC4 HNRNPH2 CHRND HNRNPU CHRNE CHRNG HIRA TWIST1 ABCB4 EFTUD2 SLC2A10 HPCA TYROBP HOXB1 LONP1 SERPINA1 AP1S1 AP2S1 ICOS CLCN1 PLAA PIGA NRXN1 NALCN HOXD13 PIK3CA PIK3R1 UBTF HPGD SHPK HPRT1 RECQL4 HPS1 UFD1 SLC35A2 PITX2 CLTC PKD1 RETREG1 FBXO7 PEX16 HRAS PKHD1 CTHRC1 TJP2 LMOD1 CYP7B1 ALG8 PLAGL1 COL14A1 CCR1 CCR6 ATXN10 PLCG2 PLEC ABCC2 PLG UROD MED17 TXN2 GMPPA PLOD1 PLP1 EIF2AK3 KDM6A NIPBL COG4 VARS HSPA9 VCP COL1A1 PMP22 COL3A1 POMT2 PMS1 SLC25A24 COL5A1 COL5A2 NDUFB11 TRAPPC11 COL7A1 EXOSC9 PMS2 KIF23 MAGEL2 TBX4 COL13A1 UBQLN2 VWF MYOT PNLIP WAS COMP COMT WIPF1 ARV1 KLF6 ADAMTS3 ADAMTS2 CLIP2 DLL4 FKRP WFS1 WHCR NSD2 POLA1 INPP5E POLD1 FA2H WNT3 POLE RRM2B POLG WNT7A EFEMP2 POT1 NDUFAF3 SH3KBP1 POLR1C WRN WT1 COX7B PORCN POU2AF1 TWNK RFX6 SIN3A IDH1 MINPP1 IDH2 XRCC1 PPARG XRCC2 XRCC4 IDS GABBR2 PNKD GTF2IRD1 CR2 GDF3 SP110 CREBBP YWHAG SHANK3 ZAP70 SH2B1 CRKL NECAP1 CHMP2B ZIC2 ZIC3 CRYAB PPP2R5D IGF2 IGF2R PPP3CA SNCAIP MMEL1 KANSL1 SEC24C IGH PDP1 IGHM TTC37 NUS1 C12ORF65 SETBP1 RBPJ LPIN2 CEP41 GEMIN4 PRKAR1A KBTBD13 GIGYF2 SLC13A5 APPL1 PRKCD PRKCG CTBP1 CCN2 CAVIN1 CTLA4 PRKCSH IGLL1 CTNS MAPK1 CTNNB1 CTNND1 MAP2K1 MAP2K2 CEP57 IL2RA NEUROG3 PRNP SEMA3E CYBA PRPS1 CYBB IL10 CEP104 IL10RA IL10RB TET2 IL12A IL12B IL12RB1 TCTN3 PRSS1 KIF1BP CHCHD10 DDX59 AHI1 SAMD9 PRTN3 PLVAP PSAP HDAC4 PSEN1 REEP1 ACD TMEM237 INHBA INS PIEZO1 MATR3 CYBC1 CYP27A1 KIAA0586 PTDSS1 DAB1 PDX1 CD55 ITGA6 SLCO1B3 IRF1 PTPN22 IRF5 DAXX ISL1 KEAP1 ITGA2 ITGA2B PSPH TGM6 DCC PTCH1 PTEN BCOR SLC30A2 WNK1 NSUN2 ITGB2 ITGB3 NEK9 ITGB4 DDC RNF43 ZEB2 DDIT3 ZBTB24 DDOST PHGDH MFF MKS1 FBXL4 JAK2 JAK3 FREM2 TIMM8A PTPN3 JUP TRMT10C KCNA2 CEP120 ANTXR2 RNF125 KCNB1 PROKR2 KCNC3 TINF2 SACS TECPR2 FIG4 KCND3 WASHC5 FGF20 CCDC47 CXCR4 PTS DGUOK DHCR7 C19ORF12 DHCR24 KCNJ11 TMEM70 ARNT2 IL21 DHODH PEX19 ABCD4 PEX2 PEX5 PYCR1 DKC1 KCNQ1 ALDH18A1 MAFB RBM8A DLEC1 KIF5A CDC73 SLC52A2 DMP1 TMEM231 DNM1 DMPK CPLANE1 QDPR HYMAI KIT TNFSF15 MED12 TCTN1 IL23R RAC2 CDON DNM2 DNMT3B RAD21 FOXP3 RAD51 RAD51C RAD51D KRAS SCO2 EFL1 DPYS KRT8 FAT4 B3GLCT RAPSN RARB RARS RHBDF2 WDR34 NUP107 KRT18 USB1 RB1 NDUFAF2 DSP EBF3 DOCK8 DYNC2H1 COG7 UBE3B L1CAM TPRKB KAT6A ASCC1 DVL3 DNAJB6 GLIS3 LAMA2 LAMA3 AGGF1 FARSB WDR60 LAMB2 B3GALT6 LAMB3 DNM1L LAMC2 SALL4 FANCL RELA LBR REST RET REV3L RFC2 WRAP53 ECE1 TYMP LCT DLL1 CCNQ PQBP1 ECM1 AAGAB SELENON MCOLN1 RFX5 RFXAP GMNN JMJD1C ARPC1B PALB2 LETM1 EDN3 EDNRB RFWD3 YARS2 KIF7 EEF1A2 RAD50 TTC7A SLC25A22 ERGIC1 RMRP LIFR POLR1D KY RASGRP1 MLXIPL LIG4 SEMA3D LIMK1 LIPA OPTN KMT2D AAAS HMGA2 MECR FAM13A LMNA LMNB1 RNF6 CDCA7 TRAPPC12 SETD5 PABPN1 TRIM28 COQ4 VANGL1 CCBE1 SBDS FANCI ARID2 SLC25A13 SAR1B AP3B2 SYT14 RLIM EIF4G1 LRP2 EHMT1 ELANE LRP5 UBAC2 CLMP ALG3 BSCL2 ELN GREM1 DCTN4 TANGO2 SPRTN ENG EPCAM CSPP1 TBL2 CD96 EP300 RPL10 RPL11 SMAD3 SMAD4 TCTN2
Abnormality of blood and blood-forming tissues
Genes 1081
EPHB4 TACO1 GP6 TSR2 EPO EPOR RPL26 RPL27 GLRX5 ABCA1 SLC29A3 ERCC2 RPL35A ABCB7 ERCC3 BRIP1 LZTR1 ERCC4 ABL1 IRX5 RNF168 ERF ZMPSTE24 MAN2B1 MAP1B ACAT1 DNAJC19 MARS SLC35C1 MAT2A NT5C3A ACP2 MAX ACP5 NCF1 RPS7 ACTA2 RPS10 CD109 RPS14 RPS15A ACTC1 ETV6 TCIRG1 EVC MECOM RPS17 MCM4 RPS19 IKZF1 RPS20 ACTN4 EWSR1 TRAC CD46 EXT2 RPS24 ACTN1 RPS26 ACTN2 TMEM173 RPS27 EXTL3 ACVR1 RPS28 RPS29 MAGT1 RRAS ACVRL1 DTNBP1 MDH2 RREB1 MDM2 F2 ADA ADAR RS1 F5 F7 PICALM F8 KLRC4 F9 F10 F11 F12 MYSM1 F13A1 MEFV PHF21A F13B RYR1 STN1 TBC1D24 BAP1 FANCA FANCC FANCD2 FZD4 FANCE ACSL4 GFI1B FAH MET FANCB FANCF FANCG SAA1 SAMD9L MGAT2 FBN1 PANK2 OTULIN AEBP1 CIITA SC5D COG6 ARHGAP31 FKTN POMP FDX2 AGA RNASEH2C FECH SCN5A AGXT AHCY SCN9A SCN10A FGA MLF1 FGB MLH1 SCO1 AK1 AK2 AKT1 NOP10 ALAD ALAS2 FGFR2 HAX1 MMP1 FGG MAD2L2 FH ALDOA FHL2 DOCK6 ALDOB SLC30A10 SEC23B SDHA RAD54L SDHB SDHC SDHD ALPL FOXE3 MPI MPL MPO FOXN1 FLI1 FLNA KLF11 FLT3 FOXRED1 FMO3 LAMTOR2 HYOU1 ANK1 FN1 NEBL OSTM1 CISD2 RNASEH2A CTC1 MCFD2 PUF60 SGCD SGCG ACAD9 SH3GL1 PEX3 FERMT1 DOLK SLC35A1 SLC19A2 LARS APC ARFGEF2 ANKRD26 IKBKG AIRE BIRC3 XIAP NLRP1 DGKE APOA1 NPC2 APOB MSH2 CHD7 FASTKD2 TXNRD2 APOE APP FANCM AP3B1 FAS NHP2 FASLG TMEM127 TCAP COA8 TDP2 ABCC6 RBM20 SLC2A1 HPS3 PEX26 ARF1 SLC4A1 EPG5 CASK FAN1 MTFMT MSN WDR19 MST1 TRMU NBAS C1GALT1C1 HSD3B7 LIPT1 PIGT MLH3 TNFSF11 ACAD8 MTAP STS FAM111A SLC12A3 LAT COX1 COX2 UBE2T G6PC3 COX3 ARVCF KLF1 DYNC2LI1 MTHFD1 ASAH1 FARS2 MTOR ELMO2 SLC20A2 RFXANK TP63 SLCO2A1 HBB-LCR ANKRD1 ND1 ND4 NAXD ND5 ND6 ANKRD11 MTTP MTR PUS1 GATAD1 AGK MTRR SMARCD2 SERPINC1 FOXP1 TRNF CARD11 NDUFAF6 SMPD1 TRNH FUCA1 TRNL1 ATM HAMP TRNN TRNQ TRNS1 SLC4A4 TRNS2 OCLN FUT8 TRNW STX11 ERMARD FYB1 MUC1 SPATA5 PRDM16 G6PC G6PD LMBRD1 SLC37A4 SLX4 MMUT MVK SOS1 MYBPC3 SOS2 LYRM7 MYC MYD88 UBR1 ATP6V1A MYH6 ATP6V1E1 MYH7 MYH9 GALC MYH11 SPARC EOGT ATP6AP1 ATP7A ATP7B MYLK GALT ATR ATRX SPINK1 CHST14 TNFSF12 RTEL1 ERAP1 JAGN1 C15ORF41 TMEM165 ARHGAP26 SPTA1 SPTB B2M KIF1B SRC AKR1D1 GATA1 GATA2 GATA6 GBA CDH23 SRP54 NBN SRP72 UNC13D GCDH NCF2 NCF4 SLC46A1 CCND1 BCL2 GCK NDP NDUFA2 TNFRSF11A FTCD NDUFA4 GCNT2 BCL6 SSR4 CLPX PEX11B SLFN14 NDUFA9 NDUFA10 GDF2 COQ2 BCR ADA2 BCS1L NDUFB8 DPM1 NDUFS1 GFI1 NDUFS2 MMADHC NDUFS3 NDUFV1 NAGS NDUFS4 STAT1 GGCX STAT3 STAT4 NDUFS8 NDUFV2 STAT5B B4GALT1 NOD2 BLK BLM STIM1 NUTM1 STK4 CBLIF IFIH1 CDAN1 STK11 MALT1 BMPR1A ZNF469 BMPR2 NEU1 NEUROD1 NF1 BPGM GLA STXBP2 NDUFA12 BRCA1 GLB1 TMTC3 BRAF BRCA2 GCLC CARD9 SGPL1 GLI1 NFIX ABCC8 SURF1 NBEAL2 NFKB1 BTK NFKB2 MYPN BUB1 A4GALT CYP26C1 BUB1B VPS13A PACS2 C1R C1S C2 GNA11 C4A BCL10 ADAM17 CAPN5 GNAQ GNAS SEMA4A COX4I2 GNB1 NME1 TAL1 TAL2 TALDO1 AP3D1 ABCG5 ABCG8 NOTCH1 TBX1 TAZ NOTCH3 SLC27A4 CA2 TBCE GP1BA GP1BB PNP SPINK5 TBX2 GP9 NPC1 NPHP1 TBXAS1 CYP4V2 GPI NPM1 SFXN4 CACNA1D CACNA1S TCF4 HNF1A TCF3 CAD PLOD3 SLC11A2 NRAS NEDD4L MLX TCN2 HTRA2 CALR GPR35 NTHL1 TMPRSS6 TAF1A CAPN3 GPX1 NUMA1 SLC19A3 NSD1 CASP10 CASR ADAMTS13 LMNB2 OCRL AIP SIK3 RUNX1 SLC7A7 CBFB TEK MPIG6B CBL PRDM5 LARS2 TERC TERT TF CBS TFAM OPA1 CLDN1 STT3B KRIT1 GSS TFR2 TFRC TGFB1 TGFB2 MMAA TGFB3 HAVCR2 UNC119 TGFBR1 TGFBR2 TGFBR3 MSH6 USP8 ORAI1 FCGR2C CORO1A THBD GTF2E2 CD3D LDB3 CD3E CD3G CD247 CD4 THPO SF3B1 THRA CD8A CD19 MS4A1 DCLRE1C GUCY1A1 ZNF341 CD27 IL12A-AS1 CD28 ETHE1 GYPC CD36 BRD4 BTNL2 SCARB2 ISCU TLR4 PRDX1 CYCS CD40 SERPINE1 CD40LG CHEK2 TREM2 ERCC6L2 TNFRSF13C CD59 LRRC8A TNFRSF13B TMPO CD70 CD79A CD79B CD81 CD151 PARN SERAC1 PAX4 RPL35 TNFAIP3 HADH LRBA TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 BUB3 HBA2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBD MMAB CDC42 HBG1 PCCA HBG2 PCCB TNXB SERPIND1 TP53 ATP6V0A2 COX14 PCNT XPR1 PIGM HELLS TPI1 TPM1 CFH CDKN2A TPP2 TMEM67 USP18 TREX1 ASXL1 SCN11A PDE4D CEBPA HK1 CEBPE CEL HLA-B PDGFB PDGFRA PDGFRB PDHA1 HLA-DPA1 ATOH7 HLA-DPB1 VPS45 ENPP1 AMACR HLA-DRB1 CFTR PEPD BLNK CTRC HLCS PEX1 PEX6 DNAJC21 PEX10 PEX12 PEX13 PEX14 KCNE5 TSC1 TSC2 HMGCL HMOX1 PFKM HNF4A TRIP13 TTN LYST PGK1 ALX4 NLRC4 PGM1 SLC39A13 PGM3 HIRA RNU4ATAC TNFRSF4 TUBB1 SLC2A10 HOXA11 TYROBP VKORC1 ICOS PIGA CLCN7 CLCNKB COG1 PIK3CA PIK3CD PIK3R1 HPGD CLN3 SHPK HPRT1 RIN2 RECQL4 HPS1 UFD1 A2ML1 RAD54B SNX10 PEX16 PKLR GTF2H5 HRG CRIPT CYP7B1 ALG8 UMPS COL14A1 CCR1 PLAT PLAU PLEC ABCC2 PLG UROD UROS SERPINF2 PLN PLOD1 SEC61A1 ALG6 EIF2AK3 KDM6A NIPBL ALG12 COG4 HSPA9 VCL PML COL1A1 PMM2 COL1A2 COL3A1 COL4A1 PMS1 COL4A2 VHL COL4A5 COL5A1 COL5A2 COL7A1 PIGL BEST1 PMS2 KIF23 VWF COL17A1 NDUFAF5 WAS COMT WIPF1 ADAMTS3 ADAMTS2 P2RY12 DLL4 WFS1 POLE RRM2B POLG SMARCAL1 MPDU1 EGLN1 NDUFAF3 BAG3 COX6B1 WT1 COX8A COX10 COX15 CP CPA1 XK SAMHD1 IDH1 IDH2 CPOX NABP1 XRCC2 XRCC4 CPT2 NSMCE2 CFI CR2 SP110 CREBBP ZAP70 ALG2 MMACHC CRYAB IFNG IFNGR1 BCL11B GNA14 SEC24C CSF3R IGH PRF1 IGHM TTC37 SETBP1 RBPJ PRKACA CST3 LPIN2 PRKACG MPLKIP PRKAR1A CYP4F22 APPL1 PRKCD BLOC1S3 CTLA4 PRKCSH IGLL1 PRKG1 CTNNB1 CTPS1 MAP2K1 MAP2K2 CEP57 IL2RA NEXN CTSK IL2RG PRLR IL7R CYB5A PROC SEMA3E PROS1 CYBA CYBB IL10 IL10RA COX20 TET2 IL12A IL12B CYP2A6 PRSS1 PRSS2 IFT140 NLRP12 NDUFS7 CYP2C9 ZBTB16 ZBTB20 SAMD9 PRTN3 PLVAP PSAP PSEN1 PSEN2 ACD INHBA PET100 INS CYP11B1 CYP11B2 PIEZO1 CYBC1 RNF113A VPS33A PSMB4 BMS1 PSMB8 PSMB9 PDX1 CD55 PTPN22 DAXX DBH NHLRC2 ITGA2 ITGA2B PTEN NPHP4 NSUN2 ITGB2 ITGB3 ITGB4 GINS1 RNF43 ZBTB24 PTH1R PLEKHM1 DDOST PHGDH ITK HELLPAR FBXL4 IVD JAK2 JAK3 DES BLOC1S6 CCM2 PTPN11 ARL6IP6 SARS2 PTPRC CLPB VPS33B TINF2 SDHAF2 FIG4 CXCR4 KCNJ1 KCNJ5 DGUOK HPS4 DHFR KCNJ11 CYB5R3 PEX19 DIAPH1 SLC25A38 ABCD3 ABCD4 PEX2 PEX5 KCNN4 DKC1 KCNQ1 FIP1L1 DLD ATP11C RBM8A DMD RFT1 AMMECR1 KIT KLKB1 DNASE1L3 RAB27A NR1H4 IL23R KIF11 RAC2 DNM2 FKBP14 FERMT3 DNMT3A PDE11A DNMT3B FOXP3 RAD51 RAD51C DOCK2 RNASEH2B KRAS DPAGT1 RAF1 KRT1 RAG1 RAG2 KRT5 SCO2 EFL1 RANBP2 FAT4 CYSLTR2 KRT14 EVC2 RARA AMN SRD5A3 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG2 RB1 NDUFAF2 DOCK8 LAMA3 AGGF1 LAMA4 FARSB ABCB6 LAMB3 DNM1L ABCC9 LAMC2 SALL4 FANCL RPSA REN NUP214 LBR LCAT RET LCK COLGALT1 MLLT10 CUBN WRAP53 TYMP ECHS1 PPCS AAGAB TBL1XR1 RFX5 RFXAP JMJD1C ARPC1B LEP CSRP3 LEPR PALB2 RHAG NLRP3 RFWD3 YARS2 PNPO ESCO2 RIT1 TTC7A NDUFA13 SLC17A5 RMRP MRPS7 MFAP5 RASGRP1 LIG4 ANGPTL6 LIPA KMT2D TRNT1 ABHD5 LMAN1 LMNA CDCA7 AASS ANO6 CCBE1 SBDS LOX FANCI SLC25A15 ARMC5 SAR1B LPP HPS6 IRAK4 ELANE STEAP3 LRP5 UBAC2 ELN GREM1 NHEJ1 SH2D1A ENG EPCAM RPL5 EP300 EPAS1 VPS13B EPB41 EPB42 RPL11 SMAD3 SMAD4 RPL15 RASGRP2 RPL18
Diabetes mellitus
Genes 326
SOX2 MKRN3 SOX3 MKKS SNORD115-1 SPATA7 CDKN2A HFE CERKL UBR1 PRPF31 LRAT PRSS1 TREX1 PRSS2 IFT140 ARL2BP GLRX5 SLC29A3 MAK AHI1 ABCA4 PDE4D ZBTB20 PDE6A PDE6G ZMPSTE24 IMPDH1 CEL STUB1 SPINK1 RTEL1 PDE6B LEMD3 INS HLA-DQB1 GJB4 IFT172 AMACR KIZ CDHR1 HLA-DRB1 CYP19A1 CFTR DHX38 MAFA GAS1 INSR ZFP57 MC4R GATA3 CTRC GATA6 PDX1 IPW PEX1 BBS1 PWRN1 PEX6 BBS2 DNAJC21 PEX10 CDH23 SRP54 DHDDS NDN PRPF6 GCK NDP KCTD1 AGBL5 GPR101 PTCH1 HNF4A ADAR TTPA TUB SNORD116-1 HESX1 STAT1 STAT3 TULP1 BLK BLM ARL6 IFIH1 TTC8 GJA1 PROM1 NEK2 GJB3 SAG FBN1 NEUROD1 SARS2 PNPLA6 BRCA1 ALMS1 BRAF BRCA2 PROKR2 CLCNKB TINF2 KLHL7 REEP6 FAM161A PIK3R1 GLI2 ABCC8 KCNJ11 RNASEH2C ARNT2 NPAP1 SCAPER FSCN2 DCAF17 AHR PRCD DKC1 FGF8 PLAGL1 AKT2 NOP10 FGFR1 PLCD1 GNAS PWAR1 SEMA4A HERC2 MERTK FOXH1 PLIN1 HYMAI NODAL USH2A CLRN1 CNGB1 CNGA1 EIF2AK3 MOG CDON CA4 IMPG2 PDE11A FOXP3 FOXC2 HJV PROK2 RNASEH2B KRAS TCF4 KLF11 EFL1 HNF1A BEST1 HNF1B PNPLA2 NR2E3 MAGEL2 POC1A OFD1 SLC25A4 USB1 NRL CLIP2 APOA5 CISD2 RNASEH2A CTC1 PTF1A WFS1 GPR35 POLD1 FOS RRM2B POLG AGPAT2 RBP3 WRN SLC19A2 HGSNAT GLIS3 SHH AIRE KIAA1549 FUZ BAZ1B RDH12 POMGNT1 PRPH2 ARHGEF18 DNM1L CP TWNK CPA1 CASR PCARE SAMHD1 TDGF1 AIP CAV1 PSTPIP1 FXN APOE IDH3B PPARG RFC2 XRCC4 WRAP53 SIX3 GTF2IRD1 NSMCE2 PRPF8 DLL1 NHP2 TERC TERT EDA RGR SLC7A14 AR LEP OPA1 LEPR PALB2 POLR3A RHO CRB1 ZIC2 MKRN3-AS1 CRX RLBP1 TTC7A PPP1R3A CNBP MST1 ERGIC1 LHX1 TGIF1 USP8 MLXIPL LIG4 LIMK1 EYS ARL3 LIPE OTX2 IGF1R GTF2I HMGA2 ATP6 TRNC SLC12A3 LMNA COX1 COX2 COX3 GUCA1B IFT88 CYTB SLC16A2 PRPF4 PRPF3 ELMO2 PDE8B VANGL1 SBDS EIF2S3 IER3IP1 ZNF408 CIDEC ND1 ARMC5 ND4 ND5 ND6 PRKACA PRKAR1A NKX2-5 APPL1 TRNE TRNF ROM1 ZFYVE26 PARN CAVIN1 BSCL2 TRNH RP9 RP1 ELN TRNK PAX4 RP2 TRNL1 RPGR ATM HAMP CTNS CTNNB1 C8ORF37 TRNQ TRNS1 TRNS2 POLG2 TRNV TOPORS TRNW KDSR HBB SUFU IL2RA RPE65 DNAJC3 SNRNP200 SNRPN PALLD TBL2 DISP1 EDA2R NEUROG3 TP53 CEP19 SMAD4 PCNT ZNF513
Abnormality of the kidney
Genes 1011
MKKS TACO1 RPL26 NRIP1 ERBB3 CTU2 SLC29A3 SF3B4 AMER1 BRIP1 ERCC4 ERCC6 NUP85 CWC27 MARS USP9X RBM10 SMC1A MAX ACP5 APC2 TMEM216 ACTB ETFA ETFB SLC6A19 ZFP57 ETFDH CD109 COQ8B NAA10 ACTG1 ACTG2 EVC DHDDS LAGE3 MCM5 IKZF1 ACTN4 CD46 EXT2 RPS26 EYA1 ACVRL1 MDH2 RREB1 ARID1A MDM2 F2 ADA IL17F MECP2 KLRC4 F10 IFT43 MEFV PHF21A RYR1 MAP3K1 TBC1D24 AXIN2 BAP1 MEN1 MEOX1 FANCA FANCC FANCD2 GREB1L FANCE SEMA3A ARL6 ACSL4 FAH TTC8 MET FANCB DACT1 FANCF FANCG SAA1 ARID1B FBN1 DLC1 SALL1 KITLG MBTPS2 SC5D COG6 FKTN YAP1 STRADA HOGA1 JAG1 AGT AGTR1 AGXT NR0B1 MITF GPC4 SCNN1A SCNN1B WDR35 FGA MLH1 SCNN1G SCO1 CC2D2A ANTXR1 KMT2A FGF8 AKT1 FGF10 FGFR1 FGFR3 FGFR2 IFT80 MAD2L2 TP53RK SLITRK6 FH SLC30A9 ALDOB LTBP4 MOCS1 ALOX12B FOXG1 MOCS2 SEC23B SDHA FOXF1 SDHB SDHC ZNF687 SDHD ALPL OPLAH FOXI1 CRTAP FOXC2 FOXE1 FLI1 FLII FLNA FLNB KLF11 DCDC2 FRAS1 FBLN5 CCDC22 DEAF1 FN1 OFD1 OSTM1 CISD2 SFTPC PUF60 FOS PEX3 CEP290 AGPAT2 ARX KCNAB2 BBIP1 APC ITGA8 TMEM138 SHH ELP1 AIRE FUZ NTNG1 SI UQCC2 DGKE APOA1 APOB LIPN MSH2 CHD7 FASTKD2 MSH3 POMT1 TMEM107 STIL APOE OSGEP SIX1 SIX3 FANCM APRT SKI PIGV FAS FASLG CCDC141 TMEM127 AQP2 SLC1A1 AR COA8 ABCC6 CEP164 SLC2A2 PEX26 SLC3A1 SLC4A1 EPG5 SLC5A2 FAN1 CEP63 SDR9C7 WDR19 MST1 ARHGDIA SETD2 VAC14 RAB3GAP1 ARL3 RAB18 PIGT VIPAS39 NPHP3 PIEZO2 STS ATP6 SLC12A1 SLC12A3 COX1 COX2 UBE2T G6PC3 COX3 ARVCF WDR11 FEZF1 SLC34A1 DYNC2LI1 TRIM32 TP63 ND1 ND2 ND3 XPNPEP3 EBP ND4 ND5 ND6 CLDN16 SNAI2 DCHS1 NUP133 B9D1 SMARCA4 RSPO2 SMARCB1 FLCN SMARCC2 SIX5 CDK5RAP2 TRNE SMARCE1 TRNF SMS CEP152 NR5A1 TRNH IFT122 TRNK TRNL1 RERE TRNN ATP1A1 TRNQ MAPKBP1 TRNS1 SLC4A4 TRNS2 OCLN TRNT TRNV FUT8 TRNW SUFU SNRPB FXYD2 MUC1 MCTP2 PRDM16 BBS12 G6PC SLC37A4 TRIM37 SLX4 MMUT H19 AFF4 RAI1 MGME1 INVS SON RAB23 GABRD ADCY10 TRAF3IP2 SOX9 MYD88 SOX10 UBR1 SOX11 ATP6V1B1 DNAJB11 INTU MYH9 MYH11 ANKS6 ATP7A DIS3L2 CENPJ ATP7B WWOX MYLK GALNT3 WDR4 ATRX MYO1E CHST14 MYO5B ERAP1 AVPR2 ZNF423 NADK2 SDCCAG8 DZIP1L B2M KIF1B TMEM126B IQSEC2 SRC GAS1 HDAC8 GATA3 GATA4 GBA BBS1 BBS2 SPART GBE1 CDH23 BBS4 SRP54 NBN SRY CCND1 GCK COL25A1 SSR4 SMOC1 PEX11B SRCAP GDF2 COQ2 ANKLE2 GPKOW ADA2 BCS1L BBS9 NDUFB8 SLC26A1 NDUFS2 HESX1 FREM1 STAT1 FGF17 STAT3 STAT4 STAT5B NUP205 NOD2 BLK LPIN1 IFIH1 CDKL5 STK11 BMP4 NEK1 NEUROD1 STX3 GANAB KISS1R TXNL4A NF1 PNPLA6 STXBP1 GLA GPC3 BRCA1 BRAF BRCA2 MAGED2 SULT2B1 NFIA KLHL7 SGPL1 GLI1 GLI2 GLI3 ABCC8 SURF1 GLIS2 BUB1 BUB1B VAMP7 C1QBP MYMK HYLS1 C1QA C1QB C1QC C3 LIPT2 GNA11 C4A TACR3 BMPER GNAS STRA6 GNB1 FOXH1 TAF13 MAP3K7 NODAL KCNQ1OT1 TALDO1 KYNU NUP160 ABCG5 ABCG8 TBX1 ALG1 NOTCH2 NOTCH3 CA2 GP1BA GP1BB SPINK5 GP9 TBX15 NPHP1 NPHS1 NPM1 CACNA1D CACNA1S IFT27 TCF4 TBX3 NCAPD3 NIPAL4 HNF1A HNF1B SLC25A20 ADAMTSL1 CAD RPGRIP1L NRAS B4GAT1 TCN2 GPR35 ROR2 NUMA1 SOX17 NSD1 BAZ1B CASP10 CASR IL17RC ADAMTS13 RIPK4 TDGF1 LMNB2 OCRL SPECC1L AIP CAV1 BBS5 SLC7A7 SERPINH1 NXN OGG1 CIT TFAP2A DICER1 CLDN10 GSN TFE3 ZFPM2 POLR3A CCND2 SLC7A9 GRIP1 TBX18 B9D2 TGIF1 TGM1 MSH6 USP8 MFSD2A KLLN GTF2I DCLRE1C SMC3 INF2 IL12A-AS1 BTNL2 SCARB2 PPP1R15B PAFAH1B1 TLR4 SLC49A4 PRDX1 PAH FIBP HAAO WDR73 CD151 HABP2 PAX1 PAX2 PAX4 PAX6 SEC63 PBX1 BUB3 KAT6B HBB PC RNF139 CDC42 TNXB DISP1 PCK1 PCK2 TP53 COX14 CDK4 CDK6 LARGE1 PIGY CDKN1B CFH CDKN1C PIGN H19-ICR HGD TMEM67 TREX1 ASXL1 POU6F2 HIC1 PDE6D GCM2 CEL HLA-B MICOS13 MNX1 CENPF PDGFRB LEMD3 HLA-DPA1 HLA-DPB1 ENPP1 HLA-DRB1 SLC26A4 CD2AP CFTR TRPC6 GDF6 COPB2 PEX1 CLEC7A PEX6 PEX7 DNAJC21 PEX10 HMBS SOX18 PEX12 PEX13 PEX14 KCNE5 HPSE2 TSC1 TSC2 CHD4 WNT4 HMOX1 CHN1 HNF4A TRIP13 PGAM2 TRIP11 CHRM3 TTR PGK1 ALX4 PGM3 HNRNPU HIRA RNU4ATAC SNAP29 PHEX ERCC8 HOXA13 COLEC11 PHYH SERPINA1 AP2S1 SLC9A3R1 DMRT3 PIGA CLCN5 CLCNKA GRHPR CLCNKB COG1 HOXD13 PIK3CA ANLN PIK3R2 SHPK DSTYK HS6ST1 HPRT1 RAB3GAP2 RECQL4 HPS1 UFD1 PKD1 PKD2 PEX16 HRAS ASPM PKHD1 UMOD LMOD1 ALG8 UMPS PLAGL1 COL14A1 CCR1 CCR6 PLCD1 IL17RA FLRT3 PLD1 PLEC PLG HSD17B4 PYCR2 SERPINF2 TMCO1 SEC61A1 EIF2AK3 KDM6A NIPBL HSPA9 PML COL1A1 PMM2 VDR COL3A1 COL4A1 POMT2 PROK2 VHL COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 HSPG2 COL7A1 PIGL WAS SLC2A9 COMT WIPF1 TAPT1 ADAMTS3 CLIP2 DLL4 FKRP WFS1 NSD2 NELFA INPP5E IARS WNT3 POLE WNT5A RRM2B SMARCAL1 EFEMP2 LZTFL1 NDUFAF3 COX6B1 WRN WT1 COX8A POR COX10 PORCN XDH POU3F4 MINPP1 SLC34A3 NABP1 PPARG XRCC2 CPT1A XRCC4 CPT2 GABBR2 GTF2IRD1 CFI GDF3 KANK2 CREBBP YWHAE PREPL SHANK3 ZAP70 SH2B1 SLC22A12 MMACHC PPM1B ZIC2 ZIC3 THOC6 IGF2 PPP3CA NSMF KANSL1 SEC24C ZNF592 PRCC NEK8 TTC37 SETBP1 IQCB1 ATP6V0A4 SLC6A20 CEP135 LPIN2 CEP41 GEMIN4 PRKAR1A CYP4F22 APPL1 PRKCD CCN2 CTH CAVIN1 CTLA4 PRKCSH NUP93 CTNS CTNNB1 MAP2K1 IL17RD MAP2K2 FAM20A CEP57 IL2RG IL7R CRB2 PRODH SEMA3E CYB561 PRPS1 IL10 COX20 LDLRAP1 IL12A TCTN3 IFT140 MASP1 DDX59 AHI1 ZBTB16 PRTN3 PLVAP ZNF148 HDAC4 TRAF3IP1 TMEM237 ABCA12 PET100 INS IFT172 CYP24A1 INSL3 CYP27A1 KIAA0586 VPS33A PDX1 ITGA6 PTPN22 IRF5 CFHR5 KCTD1 KEAP1 ITGA2 ITGA2B ITGA3 DCC PTCH1 PTEN BCOR ACE NPHP4 NSUN2 ITGB3 ITGB4 ZEB2 PTH1R MRPS22 PHGDH SLC36A2 MKS1 HELLPAR KIAA0753 FBXL4 TBC1D20 NSDHL BSND LRIG2 TMEM260 MAGI2 FREM2 FAM20C ANOS1 NPHS2 PTPN11 ARL6IP6 SARS2 CEP120 ALMS1 PROKR2 CLPB VPS33B SDHAF2 FIG4 PTPRO WASHC5 FGF20 KCNH1 KCNJ1 KCNJ5 DHCR7 DHCR24 KCNJ10 KCNJ11 TMEM70 ARNT2 DHODH PEX19 PEX2 PEX5 DKC1 KIF14 KCNQ1 ALDH18A1 FIP1L1 PYGM MAFB RBM8A CDC73 AMMECR1 RMND1 DMP1 TMEM231 CPLANE1 DNA2 HYMAI DNASE1L3 IL23R JAM3 WDR62 PCSK9 CDON MOCOS KNL1 RAD21 FOXP3 RAD51 TBX22 RAD51C KRAS RAF1 RAG1 RPGRIP1 DPH1 RAG2 SCO2 AKT3 FAT4 RAP1A PDSS2 RAP1B EVC2 B3GLCT RARA RARB KRT17 MCPH1 WDR34 NUP107 DYNC2H1 COG7 RBBP8 DUSP6 TPRKB KAT6A COQ6 DVL1 DVL3 GLIS3 AGGF1 WDR60 LAMB2 SALL4 FANCL REN DPF2 REST LCAT RET RFC2 DLL1 CCNQ LDHA PQBP1 AAGAB TBL1XR1 LDLR JMJD1C WDPCP PALB2 LETM1 NARS2 NLRP3 EDNRB PHC1 RFWD3 KIF7 BBS10 CEP55 ESCO2 SLC17A5 LHX1 RMRP RASGRP1 MLXIPL LIG4 LIMK1 KMT2D TRNT1 HMGA2 LMNA ADGRG2 SETD5 LMX1B TRIM28 BBS7 VANGL1 CCBE1 SBDS FANCI ARID2 ALG9 ARMC5 SPRY4 CEP83 TTC21B MED25 LRP2 EHMT1 LRP4 SASS6 LRP5 ROBO2 UBAC2 CAMKMT ALOXE3 YY1AP1 BSCL2 ELN CLDN19 C8ORF37 EMP2 LYZ ENG CSPP1 TBL2 CD96 EP300 COQ7 RPL11 SMAD4 TCTN2 PLCE1
Obesity
Genes 318
MYT1L SOX2 MKRN3 PCSK1 SOX3 MKKS RAB23 GABRD SNORD115-1 SPATA7 SOX10 CERKL PRPF31 LRAT IFT140 ARL2BP PNKP MAK CNNM2 AHI1 ABCA4 PDE4D ZBTB20 PDE6A PDE6G IMPDH1 HDAC4 CEL ATRX TRAF3IP1 PDE6B PDSS1 CYP7A1 INS HLA-DQB1 IFT172 KIZ CDHR1 SMC1A HLA-DRB1 CYP19A1 RPS6KA3 SDCCAG8 IQSEC2 DHX38 APC2 HDAC8 MC4R GATA4 PDX1 IPW BBS1 PWRN1 BBS2 CDH23 BBS4 DHDDS SRY NDN PRPF6 GCK PSMD12 WNT4 AGBL5 DCC RREB1 PTEN HNF4A SLC10A7 TRIP12 BBS9 TUB MECP2 BDNF SNORD116-1 HESX1 FGF17 MKS1 TULP1 HIRA TNFSF4 BLK GHR SEMA3A XYLT1 ARL6 TTC8 PROM1 BPTF NEK2 ZDHHC15 ANOS1 SAG NEUROD1 KIDINS220 KISS1R PNPLA6 ALMS1 BRAF PROKR2 CANT1 KLHL7 REEP6 UBE3A FAM161A ABCC8 HS6ST1 RBMX KCNJ11 MCM3AP SYNE2 UFD1 HACE1 ARNT2 ARL13B NPAP1 SCAPER FSCN2 AHR PRCD KMT2A FGF8 AKT2 FGFR1 FGFR3 TACR3 FLRT3 GNAS HSD11B1 PWAR1 SEMA4A HERC2 MERTK FTO PRMT7 FHL1 USH2A CLRN1 CNGB1 CNGA1 KDM6A NIPBL NR0B2 PHIP TRAPPC9 TBX1 MOG CA4 IMPG2 PDE11A GP1BB RAD21 CUL4B PROK2 NPHP1 FLII CACNA1S IFT27 GNAS-AS1 KLF11 DPYD TBX3 HNF1A BEST1 NR2E3 RAP1A RAP1B MAGEL2 DEAF1 FMR1 COMT OFD1 WDR34 SLC25A4 NRL CLIP2 IFT74 RNPC3 INPP5E SYNE1 NTRK2 DUSP6 LZTFL1 CEP290 RBP3 HGSNAT KCNAB2 WT1 BBIP1 POMC NSD1 KIAA1549 PHF6 BAZ1B RDH12 POMGNT1 PRPH2 SHOX ARHGEF18 PCARE POU3F4 SPG11 CHD7 TMEM43 SIN3A AIP BBS5 H6PD HUWE1 APOE IDH3B PPARG SIM1 RFC2 XRCC4 SLC7A7 GTF2IRD1 SKI PRPF8 ADNP THOC2 CCDC141 CREBBP RGR ZNF365 SLC7A14 JMJD1C SHANK3 LEP WDPCP LEPR CEP164 SH2B1 RHO CRB1 KIF7 BBS10 MKRN3-AS1 MTFMT CRX ZNF711 RLBP1 USP8 MLXIPL LIMK1 SETD2 EYS ARL3 KMT2D IGF1 LIPE OTX2 IGF1R GTF2I IGFALS NSMF EGF SEC24C LMNA MEGF8 GUCA1B IFT88 ARVCF WDR11 SMC3 PRPF4 FEZF1 P2RY11 PRPF3 SETD5 TRIM32 BBS7 ATP6AP2 EIF2S3 ZNF408 ARMC5 SPRY4 DYRK1B EHMT1 PRKAR1A APPL1 FOXP1 ROM1 RP9 RP1 ELN PAX4 RP2 RPGR PAX6 RERE EMD CTNNB1 C8ORF37 KCNJ18 LAS1L TOPORS STX16 IL17RD ERMARD CTSH PRDM16 BBS12 RPE65 SNRNP200 SNRPN TBL2 EP300 VPS13B HCRT AFF4 MAN1B1 RAI1 CEP19 SMAD4 GABRA3 PCNT ZNF513
Weight loss
Genes 254
IL10 CDKN2A TET2 IL12A IL12B SDHAF1 POU6F2 ERCC2 ERCC3 BRIP1 ERCC4 ZBTB16 ERCC5 PRTN3 DIS3L2 CENPJ ATP7B RNF168 GALT ATR ATRX HLA-B ACAT1 CENPE AVP ERAP1 HLA-DPA1 HLA-DPB1 INS HLA-DQB1 GJB4 HLA-DRB1 TRAIP MAX B2M CYP24A1 KIF1B CFTR INSR LRRK2 ZFP57 MC2R GATA2 GATA4 PDX1 GBA HLCS CDH23 HMBS NBN PTPN22 DAXX IKZF1 RPS20 EWSR1 CCND1 HMGCL BCL2 GCK NDP TSHR BCL6 MDH2 PTEN SUCLA2 TRIP13 DCTN1 F5 GDNF MECP2 TTR KLRC4 MEFV STAR STAT3 STAT4 STAT5B FANCA SLC52A3 FANCC FANCD2 FANCE JAK2 GJA1 FANCB FANCF MALT1 FANCG BMPR1A GJB3 PANK2 ATRIP GPC3 BRCA1 BRCA2 SDHAF2 PIK3CA PIK3R1 ABCC8 BTK KCNJ11 VPS13A SCNN1A SCNN1B MLH1 SCNN1G FIP1L1 AK2 PLAGL1 PLA2G6 CCR1 AKT1 MAFB C4A BCL10 CDC73 SEMA4A MAD2L2 SLC52A2 NME1 FH HYMAI EIF2AK3 SLC9A6 IL23R SDHA SDHB SDHC SDHD PML COL1A1 FOXP3 MPL RAD51 RAD51C CUL4B PMS1 VHL KRAS NPM1 KRT1 COL5A1 FLI1 COL5A2 CACNA1S COL6A1 HSPG2 COL6A2 COL6A3 TCF4 SEMA3C KRT10 PMS2 DNAJC13 COL12A1 RARA MLX RHBDF2 RB1 NRTN CALR GPR35 RBBP8 RRM2B POLG GNPTAB CNTNAP1 NUMA1 WT1 BIRC3 SLC39A4 FANCL MSH2 REST TXNRD2 RET NABP1 XRCC2 FANCM ECE1 TYMP FAS TMEM127 TBL1XR1 PALB2 EDN3 EDNRB RFWD3 FAN1 TGFB1 IFNGR1 HAVCR2 MST1 SLC6A8 TGFBR2 MSH6 SEMA3D LIPA MLH3 THPO SLC11A1 LMNA COX1 COX2 UBE2T COX3 IGH TRIM28 IL12A-AS1 FANCI BTNL2 MRAP ND1 VPS35 ND4 TLR4 ND5 EIF4G1 ND6 LPIN2 CHEK2 PRKAR1A GIGYF2 TRPV4 UBAC2 FOXP1 TRNF CEP152 TRNH CTLA4 TRNL1 ATM KCNJ18 TRNQ TRNS1 SNCA TRNS2 TRNW KDSR EPCAM NNT PLK4 PALLD TRIM37 SLX4 UNC80 H19 PRNP TP53 HTT SMAD4 JPH3 GABRA3 PCNT
Abnormality of the cardiovascular system
Genes 2040
MKKS TSR2 CTU2 ABCA1 ABCA3 MAK DGCR6 AMER1 ABCA4 LZTR1 ABL1 ESS2 MAN2B1 MANBA ACADL ACADS AICDA MAP1B ACADVL ACAT1 MAPT DNAJC19 USP9X MAT2A RBM10 SMC1A MAX ACP5 ACTA1 ACTA2 ACTB MC1R CD109 MC2R MC4R SCYL1 NAA10 ACTC1 ACTG1 ACTG2 MMP21 MCM4 ACTN4 TRAC CD46 ACTN2 TMEM173 ACVR2B ACVRL1 MDH2 ARID1A SGO1 ADA COLQ ADAR MECP2 KLRC4 ADCY5 MEFV MEIS2 MAP3K1 TBC1D24 BAP1 MEN1 CDC45 MEOX1 FZD4 ADK GFI1B TTC8 ARID1B MGAT2 OTULIN SFTPA2 KITLG MGMT MGP AARS2 AEBP1 COG6 ARHGAP31 AGA AGL JAG1 AGT AGTR1 MID1 MIF AGXT MIPEP ARL13B NR0B1 MIB1 MITF AHCY ALPK3 WDR35 AHR MLH1 CC2D2A KMT2A AK2 AKT1 AKT2 NR3C2 ALAS2 ALB IFT80 MMP1 ALDH3A2 ALDOA DOCK6 ALDOB LTBP4 ALOX12B MOG ZNF687 ALPL MPI MPL ALX3 CUL3 MRE11 BIN1 CCDC22 ANK1 ANK2 OFD1 OSTM1 SLC25A4 ACAD9 IFT81 UVSSA PEX3 KCNAB2 APC ITGA8 IKBKG ELP1 AIRE KIAA1549 BIRC3 RNF213 XIAP APOA1 APOB LIPN MSH2 APOC2 APOE APP FANCM AP3B1 FAS FASLG AQP2 AQP5 SLC7A14 TCAP CDK10 ABCC6 RBM20 ARCN1 ARF1 EPG5 CASK MTFMT WDR19 MST1 SETD2 ARL3 NDUFAF4 TNFSF11 ARSA ARSB MTAP ATP6 ATP8 TRNC COX1 COX2 UBE2T COX3 ARVCF CYTB FEZF1 RANGRF ASAH1 MTHFR ASCL1 CDK13 PDE8B TP63 MTM1 ND1 ND2 ND3 ND4 ND4L ND5 ASS1 ND6 CTNNA3 DCHS1 PTCH2 ANKRD11 GATAD1 RSPO2 ABCB11 FLCN DDRGK1 TRNE SERPINC1 TRNF TRNH TRNK ATIC TRNL1 ATM HAMP RERE TRNN TRNQ TRNS1 TRNS2 RNASEH1 TRNT TRNV TRNW STX16 STX11 MUC1 TRIM37 ATP5F1A MMUT H19 MVK DNAH11 MYBPC3 ATP5F1D MYC ATP5F1E MYCN MYD88 UBR1 MYF6 ATP6V1A ATP6V1B2 MYH6 ATP6V1E1 MYH7 MYH8 MYH9 MYH11 EED ATP6AP1 MYL2 ATP7A MYL3 MYL4 ATP7B MYLK ATR ATRX MYO5B TNFSF12 AVPR2 MYOC GJB4 B2M PKD1L1 NAGA NAGLU FADD BBS1 BBS2 BBS4 FGFRL1 UNC13D NCF2 NCF4 CCND1 BCL2 NDP SLC25A26 NDUFA2 TNFRSF11A NDUFA4 BCL6 PEX11B NEB NDUFA9 NDUFA10 BCR BCS1L NDUFB8 DPM1 BANF1 NDUFS1 NDUFS2 NDUFS3 NDUFV1 HESX1 NDUFS4 FGF17 NDUFS8 BGN NDUFV2 BLM DNAAF3 BMP2 PROM1 NEK1 NEK2 BMPR1A BMPR2 NEU1 DST NF1 BPGM BRCA1 TMTC3 BRAF BRCA2 NF2 NFIA NFE2L2 BTD NFIX NFKB1 BTK NFKB2 BUB1 CYP26C1 BUB1B SCAPER C1QBP SERPING1 LRRC56 MYMK C1R C1S C2 CACNA1H C4A BCL10 CAPN5 NME1 FOXH1 PHOX2B BRAT1 NODAL MYRF NONO KYNU AP3D1 CFAP410 NOTCH1 NOTCH2 NOTCH3 CA2 CA4 PNP NPC1 NPHP1 NPM1 CACNA1B CACNA1C CACNA1D CACNA1S CACNA2D1 NPPA CACNB2 SLC25A20 PLOD3 NRAS CALM1 CALM2 NRL CALM3 CALR NT5E NTRK1 TAF1A ROR2 NUMA1 BAZ1B CASP8 OAS1 CASP10 CRPPA SEMA5A CASQ2 CASR RIPK4 AIP CAV1 CAV3 PSTPIP1 RUNX1 SLC7A7 SERPINA6 CBL CBS OPA1 CLDN1 TNFRSF11B KRIT1 CCND2 SIX6 TBX19 TBX18 USP8 FCGR2C OTC KLLN OTX2 DPP9 CD19 MS4A1 SMC3 PRPF4 P2RY11 PRPF3 CD27 CD28 SCARB2 PAFAH1B1 DYRK1B PAH CD40 CD40LG TNFRSF13C FIBP CD70 CD79A CD79B CD81 PARN PAX3 PAX6 LRBA PBX1 BUB3 DNAAF1 CDC42 PCCA PCCB HACD1 PCNA CDK4 PCNT XPR1 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D H19-ICR SDHAF1 TMEM67 LRAT CDSN PDE3A PDE6A PDE6C PDE6D CRLF1 PDE6G PDE6H PDGFB PDGFRA PDE6B CENPF PDGFRB PDHA1 SCARF2 ENPP1 CFTR GDAP1 PEPD BLNK PEX1 PEX6 PEX7 DPM3 PEX10 SOX18 PEX12 PEX13 PEX14 CHD4 ATP8B1 WNT4 CHKB CHN1 TRIP13 TRIP11 LYST CHRM3 TRIP4 CHRNA1 TERF2IP CHRNA7 NLRC4 PGM1 TGM5 SLC39A13 PGM3 CHRND CHRNG RNU4ATAC ABCB4 SNAP29 EFTUD2 SLC25A3 ERCC8 CRELD1 PHKG2 PHYH LONP1 AP1S1 ICOS DMRT3 CLCN2 PIGA CLCN7 NRXN1 CLCNKB PIK3C2A CLIC2 PIK3CA PIK3CD PIK3R1 PIK3R2 CLN3 HS6ST1 RIN2 RAB3GAP2 RECQL4 A2ML1 PITX2 PITX3 PKD1 SNX10 PKD2 CIZ1 PEX16 PKLR FSCN2 PKHD1 PKP1 TJP2 PKP2 LMOD1 CYP7B1 ALG8 PLAGL1 CCR1 PLAU CCR6 PLCB4 DGCR8 PLCG2 PLD1 PLEC PLG MTO1 FTO SERPINF2 PLIN1 TMCO1 GMPPB PLN GMPPA PLOD1 SEC61A1 CNGB1 PLP1 CNGA1 EIF2AK3 ADAMTSL4 NIPBL CCDC151 CNGA3 ALG12 COG4 DSE PML CHST3 COL1A1 PMM2 COL1A2 COL2A1 HJV COL3A1 COL4A1 POMT2 PMS1 COL4A2 COL4A3 SLC25A24 COL4A4 COL4A5 COL5A1 COL5A2 COL6A1 NDUFB11 COL6A2 COL6A3 COL7A1 PIGL PSAT1 PMS2 PRRX1 COL11A1 KIF23 COL11A2 TBX4 MYOT NDUFAF5 POLR1A COMT TAPT1 ADAMTS3 ADAMTS2 DLL4 FKRP POLD1 POLE RRM2B POLG SMARCAL1 POLH GNPTAB EFEMP2 POT1 LZTFL1 NDUFAF3 BAG3 COX6B1 POLR1C COX7B COX8A POR COX10 POU1F1 POU2AF1 COX15 CP POU3F4 SAMHD1 TMEM43 GATA5 SIN3A CPN1 MINPP1 CPOX PPARG CPS1 CPT1A CPT2 GTF2IRD1 CR2 CTSA GDF3 CREBBP SLC40A1 SH2B1 CRKL PPOX PPP1CB DNAH1 THOC6 CRX CRYAB PPP2CA MMEL1 NSMF GNA14 CSF2RA KANSL1 NUP155 CSF2RB SEC24C ISG15 LACC1 PRF1 CSNK2A1 NEK8 TTC37 SETBP1 IQCB1 CNGB3 PRKACA CST3 LPIN2 PRKACG CEP41 CSTA MPLKIP PRKAR1A KBTBD13 NKX2-5 GIGYF2 PRKCD CTBP1 CCN2 CAVIN1 CTLA4 PRKCSH PRKG1 CTNS MAPK1 CTNNB1 CTNND2 CTSB MAP2K1 IL17RD MAP2K2 CEP57 CTSH NEXN CTSK NEUROG3 PRNP ADAMTSL2 PROC PROP1 SEMA3E PROS1 ATPAF2 CYB561 CYBA CYBB CEP104 CYLD COX20 TET2 LDLRAP1 PRPF31 TCTN3 TRPM4 IFT140 NLRP12 MASP1 DDX59 HTRA1 AHI1 NDUFS7 SAMD9 PRTN3 PLVAP PSAP DCAF8 HDAC4 PSEN1 PSEN2 TRAF3IP1 ABCA12 TMEM94 CYP7A1 PET100 CYP11A1 CYP11B1 IFT172 CYP11B2 CYP17A1 PIEZO1 CYP21A2 CYBC1 CYP24A1 CYP27A1 DHX38 KIAA0586 PSMB4 PTDSS1 PSMB8 PSMB9 CD55 PTPN22 DAXX TTC25 DBH PSMD12 NHLRC2 KCTD1 DNAL1 CUL7 DCC GPR101 PTCH1 PTEN BCOR ACE DCTN1 NSUN2 NEK9 DDB2 DDC PTGIS GINS1 ZEB2 PTH1R PLEKHM1 PHGDH B3GAT3 MKS1 HELLPAR KIAA0753 FBXL4 NSDHL DDX11 LRIG2 TMEM260 DNAAF5 KLHL3 DES FREM2 TRMT10C CCM2 PTPN11 PTPN14 SARS2 CEP120 PTPRC RNF125 HIBCH PROKR2 VPS33B TINF2 SDHAF2 CANT1 SACS FIG4 WASHC5 FGF20 DGUOK DHCR7 DHCR24 TMEM70 ARNT2 DHODH PEX19 ABCD3 ABCD4 PEX2 PEX5 PYCR1 DKC1 ALDH18A1 DLD PYGM MAFB RBM8A DLEC1 CDC73 DMD RFT1 SLC52A2 AMMECR1 SARDH RMND1 TMEM231 DMPK DNAH5 DNAH9 TNFSF15 MED12 DNASE1L3 RAB27A TCTN1 IL23R PCSK9 CDON DNM2 FKBP14 IMPG2 FERMT3 DNMT3A PDE11A CCDC40 RAD21 FOXP3 RAD51 TBX22 RAD51C RNASEH2B RAF1 KCNE2 RAG1 DGCR2 DPH1 RAG2 SCO2 RANBP2 AKT3 FAT4 NR2E3 RAP1A SLC26A3 RAP1B EVC2 B3GLCT ITCH KCNE3 RARA RARB SRD5A3 DSC2 RASA1 RHBDF2 RASA2 SH2B3 USB1 GNE DSG1 HCN4 DSG2 RB1 NDUFAF2 DSP DYNC2H1 SLC26A2 COG7 RBBP8 DNAAF4 DTNA DUSP6 RBP3 RBP4 DVL1 ASCC1 DVL3 GLIS3 AGGF1 RDH5 FARSB RDH12 WDR60 PRPH2 ABCB6 ABCC9 MRPS16 FANCL PAM16 REN DPF2 ANO10 ARMC4 REST RET COLGALT1 RFC2 WRAP53 ECE1 GPC6 CCNQ PQBP1 ECHS1 PPCS TBL1XR1 EDA RGR ARPC1B WDPCP PALB2 EDN1 EDN3 EDNRA RHAG EDNRB TSFM RFWD3 RHO YARS2 KIF7 BBS10 CEP55 ESCO2 RIT1 RLBP1 DNAAF2 NDUFA13 SLC17A5 RMRP SNIP1 POLR1D RASGRP1 MLXIPL TNNI3K ANGPTL6 EYS TRNT1 ABHD5 IL36RN AKAP9 NDUFAF1 FAM13A RNF6 MEGF8 EGFR SUGCT SETD5 ZDHHC9 ATAD3A TRIM28 BBS7 COQ4 ATP6AP2 SBDS FANCI ZNF408 ALG9 ARMC5 HPS6 RLIM EIF4G1 EHMT1 CHCHD2 ELANE STEAP3 UBAC2 ROM1 ALOXE3 YY1AP1 RORC BSCL2 RP9 ASXL2 RP1 EIF2AK4 ELN RP2 RPGR GREM1 EMD C8ORF37 TANGO2 TOPORS ENG PRG4 RPE65 CSPP1 RPL5 TBL2 CD96 EP300 VPS13B EPB41 COQ7 EPB42 RPL10 RPL11 RPL15 TCTN2 RPL18 EPHB4 TACO1 GP6 RPL26 RPL27 ERBB3 GLRX5 CCDC8 SLC29A3 ERCC2 RPL35A SF3B4 EYA4 ERCC3 BRIP1 ERCC4 ERCC5 IRX5 ERCC6 RNF168 ERF ZMPSTE24 CWC27 CCDC174 CDHR1 SPEG ESR1 TRAIP RPS6KA3 NCF1 APC2 RPS7 TMEM216 RPS10 LRRK2 KIAA0319L ZFP57 RPS15A ETV6 TCIRG1 EVC RPS17 DHDDS RPS19 IKZF1 RPS20 EWSR1 EXT1 KLHL41 EXT2 RPS24 RPS26 RPS27 RPS28 RPS29 RRAS DTNBP1 RREB1 ADGRE2 EZH2 F2 RS1 TRDN F5 IL17F F7 F8 F9 F10 F11 WARS2 F12 IFT43 F13A1 PHF21A F13B RYR1 RYR2 STN1 FANCA FANCC FANCD2 GREB1L CITED2 FANCE SEMA3A ARL6 ACSL4 FAH BPTF FANCB DACT1 FANCF FANCG SAA1 SAMD9L SAG FBN1 FBN2 FBP1 SALL1 MBTPS2 ZMYND10 SC5D FKTN ATXN7 POMP FAM161A STRADA SCN1B SCN2B RNASEH2C SCN4A SCN4B FECH SCN5A COA5 GPC4 SCN9A SCN10A SCNN1A SCNN1B DCAF17 FGA KIAA1109 FGB EMG1 SCNN1G FGD1 PRCD SCO1 ANTXR1 SFTPA1 FGF8 NOP10 FGFR1 FGFR3 FGFR2 FGG MAD2L2 MERTK PRKAG2 FH PIBF1 FHL1 FHL2 POMK SLC30A10 SEC23B SEC23A SDHA FOXF1 SDHB SDHC FOXC1 SDHD CRTAP FOXE3 FOXC2 FOXE1 TRAF7 TMEM126A FLI1 FLII FLNA COG2 FLNB FLNC DCDC2 FRAS1 FLT4 FBLN5 FOXRED1 CIB1 FMO3 DEAF1 FMR1 FN1 NEBL CISD2 RNASEH2A SFTPB SFTPC CTC1 PTF1A SGCA PUF60 SGCB SGCD SGCG SGSH FOS CEP290 AGPAT2 RNF135 ARX FERMT1 DOLK SLC35A1 TUBB SLC19A2 BBIP1 ARFGEF2 TMEM138 ANKRD26 SHH FUZ POMGNT1 NLRP1 SLC39A4 NPC2 ARMC9 CHD7 FASTKD2 POMT1 TMEM107 TXNRD2 FXN CCDC115 SIM1 OSGEP SIX3 SKI PRPF8 PIGV NHP2 CCDC141 TMEM127 ZNF365 COA8 TDP2 SLC2A1 CEP164 HPS3 PEX26 RBCK1 STAMBP SLC4A1 FAN1 LIMS2 TPK1 TRMU NBAS PACS1 DNAI1 ATF6 HSD3B7 LIPT1 VAC14 PIGT MLH3 VIPAS39 NPHP3 PIEZO2 ATP2C1 ACAD8 GPIHBP1 FAM111A SLC12A1 SLC12A3 FRA16E LAT G6PC3 KLF1 KLF13 WDR11 CTCF DYNC2LI1 TRIM32 SLC18A2 ELMO2 SLC20A2 OTUD6B SLCO2A1 FRG1 FLAD1 ANKRD1 SLC22A5 GNB5 VPS35 XPNPEP3 EBP DLL3 NAXD MRPS14 PPA2 FSHR SNAI2 SMARCA2 B9D1 SMARCA4 SMARCB1 AGK WNT10A SMARCC2 SMARCE1 FOXP1 SMN1 FTL CARD11 NDUFAF6 SMPD1 MESP2 NR5A1 IFT122 FUCA1 NGLY1 SNCA OCLN FUT8 KDSR SUFU ERMARD SNRPB FZD2 MCTP2 PRDM16 BBS12 G6PC G6PD SNRNP200 SLC37A4 PALLD STAG2 SNTA1 SLX4 GAA AFF4 RAI1 SCN3B MGME1 INVS SON GABRA3 SP7 SOS1 SOS2 SOX2 SOX3 RAB23 GABRD SPATA7 SOX5 TRAF3IP2 SOX9 SOX10 CERKL SOX11 KDM5B DNAJB11 INTU SPAG1 ANKS6 GALE SPARC EOGT SETX DIS3L2 GALNS WWOX GALNT3 SPIB CHST14 RTEL1 ERAP1 C15ORF41 KIZ ZNF423 GJB6 SPTA1 SDCCAG8 SPTB KIF1B TMEM126B IQSEC2 GAS1 HDAC8 AKR1D1 GATA1 CPLX1 MAP3K20 GATA2 GATA3 GATA4 MYOZ2 GATA6 GBA GBE1 CDH23 SRP54 TAB2 GCDH SRY GCH1 NKX2-6 GCK POGZ MCCC2 COL25A1 SSR4 GNPTG SMOC1 SRCAP C12ORF57 SLFN14 GDF1 GDF2 COQ2 ADA2 BBS9 GDNF NFU1 GFI1 STAR NAGS STAT1 GGCX STAT3 STAT4 STAT5B NOD2 SLC52A3 ELOVL4 STIM1 XYLT1 GPD1L XYLT2 STK4 IFIH1 GJA1 CDAN1 STK11 MALT1 GJA5 GJA8 GJB2 ZNF469 GJB3 STX3 GANAB KISS1R TXNL4A PNPLA6 GLA STXBP2 GPC3 NDUFA12 GLB1 PMPCA SULT2B1 KLHL7 REEP6 GLI1 GLI2 GLI3 ABCC8 SURF1 NBEAL2 SUMF1 MYPN SYNE2 HES7 CFC1 VAMP7 VPS13A GLUL SMG9 HYLS1 GM2A PACS2 GNA11 KIAA0556 TRPV3 ATP11A GNAI2 ADAM17 GNAI3 TACR3 GNAQ TAF2 GNAS SEMA4A COX4I2 GNAT2 STRA6 MYO18B GTPBP3 MAP3K7 MAPRE2 KCNQ1OT1 TALDO1 GNS ABCG5 PIGO ABCG8 TBX1 ALG1 TAZ GP1BA GP1BB SPINK5 TBX2 TBX5 GP9 TBX6 GPD1 TBXAS1 GPI MARS2 LIAS IFT27 TCF4 TBX3 HNF1A TCF3 ADAMTSL1 DNAJC13 RPGRIP1L NEDD4L MLX HTRA2 TCOF1 GPR35 SYNE1 SMCHD1 GPX4 HGSNAT SLC19A3 OBSL1 NSD1 LMBR1 ARHGEF18 MUC5B IL17RC TDGF1 SPECC1L BBS5 SIK3 NR3C1 MED13L NSMCE3 TEK MPIG6B ADNP PRDM5 LARS2 TERC TERT NXN TF TFAP2A TFAP2B NR2F2 GSN ZFPM2 POLR3A MLYCD CRB1 TFR2 TFRC TGFB1 GRIP1 TGFB2 TGFB3 HAVCR2 TGFBR1 TGFBR2 B9D2 TGFBR3 TGIF1 MSH6 COL18A1 BVES ORAI1 GTF2E2 SH3PXD2B LDB3 GTF2I THPO SF3B1 GUCA1B MTMR14 DCLRE1C GUCY1A1 NKX2-1 IL12A-AS1 TK2 GUSB TKT GYG1 ETHE1 GYPC BTNL2 TLL1 GYS1 PPP1R15B MRAP ISCU TGDS TLR4 DNAI2 CKAP2L LRRC8A TNFRSF13B TMPO HAAO HABP2 HSD17B10 HADHA MRPL3 RPL35 HADHB SUZ12 HADH KCNJ18 TNFRSF1A TNFRSF1B TNNC1 SEC63 HBA1 HBA2 POLG2 TNNI3 HPS5 KAT6B HBB PDCD10 TNNT2 HBG1 HBG2 CLCF1 NNT CFAP53 HCCS TNXB SERPIND1 TNPO3 PRDM6 DISP1 EDA2R HCRT TOP3A TP53 CEP19 ATP6V0A2 COX14 PIGM TPI1 TPM1 HEXA PIGY TPM2 HEXB TPM3 CFH PIGN HFE TPP2 HGD USP18 TREX1 ASXL1 SCN11A ARL2BP POU6F2 HIC1 B4GALT7 CFAP300 HK1 HLA-A HLA-B DDX58 MICOS13 MNX1 PDSS1 LEMD3 HLA-DPA1 ATOH7 HLA-DPB1 HLA-DQB1 VPS45 CCDC114 HLA-DRB1 CD2AP TRPC6 TMC6 GDF6 TRPS1 HLCS CLEC7A DNAJC21 HMBS KCNE5 HPSE2 ANO5 TSC1 TSC2 HMGCL TSHR LRRC6 TECRL TSPYL1 AGBL5 HNF4A TTN HNRNPA1 TTPA TUB TTR HNRNPA2B1 ELAC2 ALX4 TULP1 HNRNPU HIRA TWIST1 TNFSF4 TNFRSF4 HOXA1 SLC2A10 HOXA11 HOXA13 HOXD13 UBE3A HPGD SHPK UCP2 HPS1 UFD1 HRAS AIPL1 GTF2H5 UMPS UNG HSD3B2 IL17RA FLRT3 HSD11B2 UROS USH2A CLRN1 KDM6A D2HGDH HSPA9 VCL VCP IGSF3 VEGFC PROK2 VHL HSPG2 TRAPPC11 BEST1 VWF WAS CCDC103 WIPF1 NMNAT1 CLIP2 P2RY12 WFS1 WHCR NSD2 NELFA INPP5E WNT3 WNT5A WRN IRF8 WT1 PORCN TWNK XK XPA XPC DUX4 IDH1 IDH2 NABP1 IDH3B XRCC2 XRCC4 IDS IDUA NSMCE2 CFI SP110 CFAP298 YWHAE SHANK3 ZAP70 NDUFA11 ZIC2 ZIC3 IFNG IFNGR1 CNBP IGBP1 BCL11B IGF1R IGF2 IGFBP7 IGH IGHM RBPJ BLOC1S3 IGLL1 SELENOI IL1RN IL2RA IL2RG IL6 IL7 IL7R CRB2 ZNF513 IL10 IL10RA IL12A IL12B IL12RB1 ZBTB16 ZNF148 IMPDH1 ACD TMEM237 INHBA INS RIPPLY2 INPPL1 MRPL44 RNF113A VPS33A PDX1 IRF5 PRPF6 UPF3B ITGA2 ITGA2B MCCC1 ITGA3 ITGA7 WNK1 NPHP4 ITGB3 MRPS22 ITK ITPA ITPR1 IVD JAK2 JAK3 JUP ANOS1 COA6 ARL6IP6 ANTXR2 KCNA5 ALMS1 CLPB KCND3 KCNE1 PAX8 CCDC47 KCNH1 CXCR4 KCNH2 KCNJ1 KCNJ2 KCNJ5 KCNJ8 HPS4 KCNJ11 COQ9 SLMAP TMC8 KCNK3 KCNN4 KCNQ1 KCNQ2 FIP1L1 KDR KIF5A TBX20 CPLANE1 HYMAI KIT WNK4 KIF11 KRAS KRT1 RPGRIP1 KRT2 KRT5 KRT8 PNPLA2 KRT9 CYSLTR2 KRT10 PDSS2 KRT14 KRT16 LHX4 WDR34 NUP107 KRT18 DOCK8 KRT83 PIGS UBE3B KAT6A SLURP1 LAMA2 LAMA3 LAMA4 JPH2 LAMB2 B3GALT6 LAMB3 GJC2 LAMC2 PCARE SALL4 LAMP2 RPSA LBR LCAT DLL1 SHOC2 SELENON BOLA3 LDLR JMJD1C LEP CCDC39 CSRP3 LEPR LETM1 LFNG NLRP3 TTC7A ADAMTS10 ERGIC1 LIFR FGF23 MFAP5 LIG4 LIMK1 LIPA KMT2D LIPC AAAS HMGA2 ALX1 LMNA LMNB1 IFT88 LMX1B LOR VANGL1 CCBE1 LOX ARID2 LPL SPRY4 MED25 LRP1 LRP2 LRP5 PIH1D3 DSG4 LTBP2 LTBP3 SH2D1A LYZ EPCAM SMAD3 SMAD4 SMAD6 SMAD9 MAF
Chronic kidney disease
Genes 87
WDR19 RAD51C CFH NPHP1 COL4A3 COL4A4 COL4A5 MAGI2 TMEM67 ARHGDIA IFT140 DNAJB11 SAA1 HNF1B DCDC2 NPHS2 AHI1 NPHP3 SARS2 FN1 NUP85 CLCN5 TRAF3IP1 NUP107 MYO1E INF2 ANLN SGPL1 IFT172 DSTYK NEK8 JAG1 SDCCAG8 DZIP1L GLIS2 TMEM126B IQCB1 LZTFL1 CEP290 XPNPEP3 TRPC6 TPRKB AGXT CEP83 CLDN16 PKD2 COQ8B TTC21B GATA3 NUP133 WT1 LAMB2 SOX18 UMOD LAGE3 DGKE ACTN4 CD151 PAX2 REN IFT122 CLDN19 CFHR5 NUP93 OCRL CTNS TP53RK OSGEP MAPKBP1 TMEM231 SLC7A7 APRT ALDOB NPHP4 MUC1 SEC61A1 KYNU NUP160 IFT43 CEP164 SH2B1 MMUT INVS PLCE1 FAN1 NUP205 NOD2