SNPMiner Trials by Shray Alag


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Report for SNP rs738409

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 9 clinical trials

Clinical Trials


1 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.

2 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

3 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

4 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

5 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:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Kidney Diseases Renal Insufficiency, Chronic Diabetes Mellitus
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

6 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:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Obesity
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

7 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

8 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

9 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 Gastrointestinal Diseases Thrombosis Hematologic Diseases Digestive System 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


HPO Nodes


HP:0001392: Abnormality of the liver
Genes 1390
SRD5A3 WHCR CSPP1 ATP7A IL2RG MYORG NR1H4 IL17RC PEX1 B9D1 CD40LG TCF4 INSR SKIV2L RRM2B TTC37 HPD PEX11B NEU1 DOCK6 RBPJ CLEC7A RNF43 PSAP HNF1B HSD3B7 VPS33A LIPT1 EFL1 SDHC CEP290 TGFB1 CHD7 TINF2 FOXP3 PRKCD ALG6 CR2 C11ORF95 PTPN3 LACC1 ABCB11 KRT8 PLEKHM1 SETBP1 CASK PEX10 PKLR HADHA GBA TINF2 SLC4A1 AGA HADHA RPS20 IL7R TCIRG1 FLI1 GLIS3 CFI UQCRC2 IL17RA DNASE1L3 TRNK MRPL3 LCAT MPV17 TBX1 PEX11B TMEM70 KLF1 INS HBB NDUFS1 KMT2E HFE FASTKD2 ALG9 CTRC KRT18 SOS1 EIF2AK3 WDR35 PYGL FASLG CORIN BSCL2 ALG8 CD81 TNFSF12 RHAG FAN1 NCF2 LMNB2 ACADM H19 FBP1 GNE TNFRSF1B ND3 RMRP XRCC2 PC SLC29A3 ACOX1 COG8 RHAG SLC30A10 CDKN2B TJP2 COX6B1 SMPD1 SPTB WDR60 CBS RPGRIP1 SRD5A3 RPGRIP1L MLH1 ATP8B1 TRIM37 TMEM67 NHP2 SLC11A2 INPP5E NFKB1 CDKN1A HADHA CA2 ACSF3 H19 POLD1 AP1S1 F5 LYRM4 SLC2A1 KRT6B PCK1 POLG2 SEC24C HNRNPA1 DHDDS ALG13 AKT2 APOA1 B3GLCT GBA MPC1 KRT16 TET2 LDLRAP1 SLCO2A1 ACVRL1 KCNH1 PIGS APC TMEM67 USP9X CAV1 IFT122 TNFSF11 LRPPRC POMC BBIP1 B9D2 PEPD ACAT1 LMNA SPTA1 ACVRL1 GATA6 LPL DIS3L2 GNPTAB PHKG2 TNFRSF1A IDUA KRIT1 SLC25A13 BMP2 GPI SNX10 AKR1D1 BBS1 MED25 APC MAN2B1 MTRR ALAS2 ERCC4 PEX14 PNPLA2 PIEZO1 MVK PEX16 BRCA2 BCS1L SBDS TUFM VPS13A IFT140 SDCCAG8 GBA AMACR PFKM HFE PTPN11 APC INSR NPC1 CTNS TSFM PEX5 IFT172 BRCA1 IFT80 ERCC4 SLC25A13 RFWD3 PSMB4 HBA2 WDR19 ALDOA ELN ATP8B1 JAK2 MPI SMPD1 HMBS TBX1 ABCA1 ICOS UROD DCTN4 DKC1 LIG4 NBAS PEX3 TRNE ACADVL SDHA GPC3 TREX1 PEX10 CAV1 MYC HADHB HGSNAT GBA MMUT PEX26 RAB27A PEX12 PMM2 RREB1 RPGRIP1L CLDN1 MPL UQCRB MRPS16 UGT1A1 WDPCP FANCC HJV PEX13 CARS2 AP1B1 GYS2 PROP1 MRPS7 PEX2 PEPD G6PC MCM4 MMUT COG4 ABCC2 PEX26 HLA-DRB1 PPARG NDUFS7 NPHP1 VIPAS39 ABHD5 SBDS PIGA APOA1 GP1BB EFL1 VCP SLC17A5 COX4I2 GPD1 GPC3 CA2 DDRGK1 NDUFAF1 COG5 PHKA2 TWNK PHKG2 KRAS CYBC1 USP18 TMEM231 SP110 PEX1 CIDEC EOGT MSH2 IL2RB SLC39A8 MEFV TANGO2 FERMT3 ATP7B PDGFRL ATM TTC21B TERT HMGCS2 HOXD13 ENG MYH9 CEL LONP1 FGA SLCO1B3 CYP27A1 MIF DPAGT1 TERT TF CLCN7 TMEM107 CD247 NDUFA6 TRAF3IP2 DNAJC19 APOB SMPD1 CEP290 PRDM16 STK11 ND2 LETM1 ITCH LPIN2 PEX6 CASR SLCO1B1 POLG TPP2 IFT172 ZAP70 CNTNAP2 SKI H19 CYP19A1 ABCG8 PKHD1 CC2D2A CTCF GCGR CD96 PIK3CA GAA PSAP LHX1 PEX2 UBE2T PSAP ND4 PEX6 SLC29A3 TACO1 RNASEH2B POLG2 ZMPSTE24 RELA TMEM67 PCK2 POMC CD79B LBR SRP54 AKR1D1 SLC39A4 SC5D RPGRIP1L PLPBP SPTA1 RERE NKX2-5 NDUFS4 FAH CC2D2A COX20 GATA6 TERT TRAPPC11 ARSA HBA1 FANCL RFX5 PEX14 HNF1A FUCA1 OCLN DCDC2 TPI1 GUCY2D PSAP NSD2 PIK3C2A STAT6 CEP19 TERC SF3B1 NDUFS6 COG6 ACADL HADH RRAS POU2AF1 NOD2 CLIP2 NDUFV1 ERCC8 PEX5 HBB NPHP3 CAVIN1 PSMB9 RFXAP TCF3 NRXN1 FECH CP GFM1 GYPC CTSC SLCO1B3 CD28 NOTCH2 GNS HAMP CDAN1 CEP120 C1QBP ADAR CEP290 POLG2 HBG2 TIMMDC1 PARN EIF2AK3 RHAG ALDOB TNFRSF13C IL21R TRMT10C RFXANK BMPR1A STX11 CD27 CASP8 DHCR7 SGSH SLC25A19 HNF1A CSPP1 BBS12 RFT1 NLRP3 USB1 TRIP13 TMEM67 IDUA PMS1 CPT2 SLC25A20 RFXAP ADA HSD3B7 RAG2 WDR35 RMRP PCSK1 PRSS1 KCNQ1 FDX2 NDUFS8 CEP290 ND1 CCDC115 NGLY1 LMNA WDR60 FANCA MSH6 TMPRSS6 POU6F2 IL2RG NCF1 NSD2 STEAP3 INTU ADAMTSL2 SON PIK3CA FANCM LDLR KCNJ11 CLDN1 DLD TNFSF11 ABCA1 PIEZO1 ARHGAP31 RBM8A SLC13A5 NOTCH2 PEX6 EPCAM MEN1 KRAS TRIM32 PEX14 DUOX2 PDGFRB HBB UBR1 PEX13 RAG1 ABCC2 CIDEC TBX19 SDHA APC ARL6 XIAP RASGRP1 TCIRG1 SMAD4 NHLRC2 ALG1 BRCA2 POU1F1 ND5 DLL4 NDUFB11 TNFRSF11A HLA-B GTF2I EPB42 CTRC SLC22A5 PEX1 IL2RA RNU4ATAC SLC37A4 BCS1L BCHE KCNJ11 LMNA TFR2 TREX1 GUSB BTNL2 TRAF3IP1 SLX4 TNFRSF13B CYBA UGT1A1 DNAJB11 KCNN3 DKC1 PEX3 VPS45 APOE SCO1 GPR35 TBX1 CR2 ATP6 PRKCD JAK2 CTNNB1 HESX1 NPHP1 LMNA APOE FANCI LYST TET2 PEX13 TP53 NUBPL TRAF3IP1 CCDC47 PDX1 TANGO2 TTC8 LYST AP1B1 RNASEH2A MUC5B IL17F SERPINA1 PEX6 FAN1 PKLR NPHP3 C1S NPHP4 FBN1 UGT1A1 KRT18 CYP7B1 CIITA GPC3 HADH HJV KPTN XYLT1 PEX16 CYP7B1 APC UGT1A1 CPT1A BBS5 PALLD CTC1 NSMCE2 FADD TTC7A BCS1L FARSB DDRGK1 NPHP3 IFNGR1 CFTR PEX16 XRCC4 FGFR2 HNF4A MPV17 GALT SLC25A1 ACADM ALG9 KLF11 MLH3 CLCN7 IGLL1 UGT1A1 CLPB GBA TALDO1 KRT8 BTD ARSA PLAGL1 HK1 ALG2 DPM2 C8ORF37 DMD SLC40A1 SLC26A4 G6PD GALK1 AGPAT2 PEX5 PDGFRA SLC40A1 IL2RG IYD KLF1 WT1 BBS10 ATP7A RNASEH2C SRP54 ABCC8 PEX13 DYNC2H1 SLC20A2 ESCO2 GPC4 PAX8 CLCA4 C4B PCCB COG8 ABCB4 XK TNFSF15 APPL1 HEXB CPT2 PEX6 XPR1 CTSA IER3IP1 ACOX1 B2M TNFRSF1B YARS2 DCLRE1C HYMAI SCARB2 CD70 BSCL2 AHCY LYZ SPINK1 SOX10 IDUA ABCC8 GABRD WT1 FASLG ERCC6 FOXF1 STOX1 TBX19 CTBP1 DPM1 ATP8B1 PEX12 BSCL2 ENG UCP2 PKD2 RNU4ATAC FGFR2 SCYL1 COG7 DAXX MST1 PSMB8 BLVRA GPIHBP1 HADHA NELFA SURF1 TNFSF12 GPC4 SMAD4 PEX19 GNAS TRMU COX10 ALAS2 NAGA DOLK PEX2 NHP2 MCCC1 TRIM28 DHFR DNAJC21 CTSK SETBP1 PEX3 WDR19 NAB2 DPM3 RECQL4 MVK RFT1 LZTR1 G6PC3 ANK1 CDKN1C STN1 KRAS PALB2 SEMA4A EPB42 UFD1 NHP2 LIPE RIT1 RNASEH2A DCDC2 FGFRL1 HNRNPA2B1 STEAP3 PARS2 DNAJC21 LHX3 TG DCLRE1C HMGCL DIS3L2 FOS VPS33B TMEM199 BRCA2 RBCK1 HELLPAR NFKB2 CASR LMNA NOP10 SFTPA2 XRCC4 PAX4 JMJD1C RAF1 CD46 PALB2 RAG2 DGUOK COX8A ND3 CFTR FANCE ICOS RMND1 RFX6 NDUFS7 IL12A LIG4 KIF23 SCYL1 NDUFS2 HLA-DRB1 FAS NCF1 ARSB MKS1 SLC25A20 RAD51 EWSR1 ALMS1 GALE PEX26 TSC1 MMAA SLC4A1 KRT17 PAX8 ABCA1 PEX19 ZIC3 ADA2 EPB41 SERPINA1 CFTR NPHP3 MOGS FBP1 FANCD2 LBR TNPO3 SLC25A4 ATP11C LRP5 TSHR NEK1 CCND1 MET VHL ABCG8 IDUA TRMU WDR34 ABCB4 SPECC1L ERCC4 DYNC2H1 MKS1 GLB1 ASAH1 ATP6V1B2 SLC25A13 NEUROG3 ND1 TCIRG1 HSD17B4 CDKN1B LRP5 STK11 IL1RN COG1 NRAS ND6 GBA BTK AMACR ETFA ND2 PPARG FLT1 COMT DGUOK CD19 PRPS1 GBA HADHB POU1F1 DLD MKKS SEC63 TRMT5 TGFBR2 GBA HMGCL SLC4A1 HBB TRNS1 MRPL44 DDOST PCCA ABCB4 LIPA ABCD3 LIPE GATA2 BTK REST SUMF1 FUCA1 PEX3 AGGF1 PEX14 RAG1 UROS ANKS6 KCNN4 SDHD PTEN TREX1 TSHB APOC2 SLC2A1 GLB1 CDKN1B CPA1 ASL HMBS IL36RN KIT INPPL1 HYOU1 TRIM37 HPGD ELN PEX19 TGFB1 CBS CYP27A1 RAG2 TGFB1 PSAP MMUT COX10 COX15 KCNN4 CYBB HMOX1 H19-ICR NDUFA11 PLIN1 DYNC2LI1 NDUFAF2 TERC MAD2L2 NDUFB9 MSH6 KRAS CD3E FOXRED1 CD19 HBG2 TRNV PCCA HNF1A KIT WRAP53 GCLC C8ORF37 COX14 ACAD9 GNMT TREX1 ATP6AP1 RFC2 HNF4A CD3D SLC25A13 PEX12 TMEM67 TERC CTLA4 TRNN CDKN2A LMNA BCS1L IDS MET IL7R CDKN2C TSHR PLIN1 PET100 GPC1 CPT1A HNF1B NLRC4 BRCA1 PEX3 DPM3 JAM3 GNPTAB TRNW DLL4 JAK3 IFT140 MICOS13 DNAJC19 PNPLA2 PRF1 NAGA CEP55 SC5D PIGM PMM2 GALT BBS7 HLA-DRB1 ITK PRKCD NDUFAF4 BBS2 LIPA NGLY1 IDUA HAVCR2 IQCB1 MFN2 NOS3 SUMF1 BBS9 NDUFAF1 MYBPC3 SLC30A10 PEX26 PEX10 EPB41 KCNAB2 ACADVL GUSB CPT2 AGPAT2 HBB POLG ETFDH NRAS PEX16 GLRX5 LRRC8A COA8 OSTM1 LIMK1 NLRP3 TBL2 LZTFL1 FH CPOX CEP164 PNPLA6 SLC37A4 SPTB ABCB11 TWNK SFTPC ALDH7A1 INPP5E HBA1 ATPAF2 SHPK ICOS SLCO1B1 FCGR2A SPRTN FBXL4 MARS1 ALG11 TMEM67 KIAA0586 CPT2 IL7R NDUFS3 RASA2 ACAD9 AUH TKT ATP7B NSMCE2 RHBDF2 OFD1 CLCN7 IFIH1 JAK2 WT1 DZIP1L HIRA DPM2 PRKCSH GNE NCF2 SLC25A19 ARSA TFAM COX15 COG2 CEP83 SNX14 KCNH1 NEK8 BBS1 NDUFAF3 PSAP CD79A BRIP1 SEC63 ADAMTS13 ANTXR1 IGF2 FANCF PDGFRA BLNK ALG8 WDR19 PEX10 TMEM126B TPO TALDO1 FAS PDGFB CLCN7 DHCR7 BMPER IFT172 PCCB TP53 CTLA4 SDCCAG8 GCK NOTCH1 PTRH2 ADA NCF4 SLC35A2 SMAD4 STAT1 TTC37 GDF2 TMEM165 IL12RB1 RFXANK IRF5 NDUFAF5 TNFRSF13B PEX12 TRAPPC11 INVS CALR TRHR SPINK1 CD28 MECP2 SEC23B AGL ABCG8 CIITA WDR19 HBG1 GALNS OFD1 TMEM216 CC2D2A ABHD5 PEX2 LARS1 TTC21B GCDH RPGRIP1L STX1A IGF2R IGF2 BTK LIPA TRNL1 MKS1 COG2 SLC25A15 PKD1 CC2D2A TNFRSF13C SLC4A1 SP110 CASP10 ATRX PKHD1 PRKCSH HNF1B SKIV2L SOS2 KRT6A PIK3R1 TARS2 RRAS2 RTEL1 POLG TCTN2 CD55 GBE1 CCDC28B PRKAR1A SLC7A7 CYTB IFT27 NPC2 BSCL2 NDUFB10 COG4 SDHB SAA1 AP3D1 ITCH SLC5A5 PRSS1 SAR1B PEX11B RAG1 GDF2 ALMS1 F5 PMS2 COA8 GBA HBB TSC2 CASP10 CASR EXTL3 LETM1 NDUFS4 HAMP DYNC2LI1 TRIM28 PHKB PSMB8 RAD51C AKT2 ARVCF SH2D1A DUOXA2 ZAP70 LHX4 C15ORF41 RNU4ATAC POLR3A HNF4A AGA RNASEH2C TYMP IFT172 MYD88 JAG1 APOE LTBP3 ASAH1 NPM1 COG6 IKZF1 PHKA2 SLC7A7 CYBA HFE GLB1 NLRP1 CBL RFX5 MS4A1 HNF4A BBS4 ARSA NAGLU BTNL2 FAM111B PLEKHM1 DMPK AIRE BPGM MLXIPL FANCG EARS2 WDR35 SAMHD1 PGM1 AP1S1 AXIN1 LMNA ALDOB ADK PRSS2 KCNQ1OT1 HBA2 CAVIN1 BLK SNX10 PPARG RRM2B CYP7A1 IFT80 BAZ1B CTLA4 FAH SLC25A15 NEUROD1 PEX1 NDUFV2 PEX5 SLC22A5 MLH1 FANCB WDR34 CPLX1 IARS1 WDPCP EXTL3 TMEM216 TERT BOLA3 XIAP MYRF CTNNB1 CYBB SPTB GANAB NPHP3 NAGS CYC1 TTC7A NOP10 MSH2 APC UNC13D TRNW JAK2 MMEL1 MMAB IGHM MPI IFT43 MRAS NDUFB3 PCSK9 FAS STXBP2 ANK1 CFH PTPRC LBR SPIB VPS33A IL6 TET2 ASS1 NDUFA1 FECH ABCG5 MPL GTF2IRD1 PEX12 AP3B1 IFIH1 ETFB PEX19 PEX1 PRKAR1A ERBB3 A2ML1
HP:0011024: Abnormality of the gastrointestinal tract
Genes 2032
SMC1A FUS WHCR COL13A1 CTC1 MYO5B SYNJ1 COL1A1 COL5A1 TCF4 PTS REPS1 RRM2B C12ORF65 CFC1 CHRND EFL1 SDHC SETD5 SMO OCRL FOXP3 PACS1 PMS2 PNKD RET PTPN3 SETBP1 KY FCGR2C GLUD2 ASXL1 USP9X RAD51C MAFB KIF7 RECQL4 MAP2K1 PTCH2 ERAP1 POLG TP53 TGFB3 TSPAN7 PIEZO1 CLMP NFIX NDUFA6 PRKCG CTRC CHAMP1 EIF2AK3 EFEMP2 GLI2 ACTA1 MAPT GP9 VAMP1 TNFSF12 PITX2 KIAA0556 SMG9 ND3 XRCC2 ACOX1 CDKN2B ACTA1 DNM1 SOX10 ATXN3 MLH1 ACTA1 POLG RPL10 VAMP1 ERLIN2 CHRND TIMM8A NHP2 OPTN NFKB1 F13B FBLN5 TRNS1 H19 MSH3 TEK MNX1 MLH3 CDK4 SDHC VPS13A SLC9A6 SSR4 ZIC2 ACVRL1 MFF ANKRD11 SQSTM1 APC USP9X DNMT3B TPM2 UPF3B PAK3 HLA-DPA1 CHCHD10 GATA6 SDHB MAPT GBA2 ARL13B GCH1 MSH2 SLC25A13 AKR1D1 TOP3A BAAT CHEK2 FOXF1 STAT1 CYP7B1 SEMA3D ASPA AMACR GP1BB APC CCDC22 SLC52A2 SPG7 CTNS SOX2 BRCA1 RERE ZBTB24 RFWD3 NDUFS2 ASXL1 COL7A1 JAK2 MPI HMBS AGTR2 UROD F12 DKC1 ITGB3 ND5 PEX3 ACADVL PRPS1 GPC3 AGRN FTL XRCC1 UBA5 ERCC2 CAV1 RPGRIP1L ADAT3 MYC DMD CEP57 LMAN1 NUS1 FGF20 SDHB ALDH18A1 JAK2 EXT2 NTHL1 MEGF10 ACOX2 CCR6 MTOR DEAF1 MYLK KBTBD13 MAPT PANK2 HDAC8 LEMD3 TRAPPC12 COG4 SPINK5 BRCA2 DDHD2 F13A1 GLI3 GFI1B GPC3 RARB PIEZO2 MAPK1 KIFBP NSUN2 PHKG2 NBN PLXND1 STAT3 FAT4 PEX1 EOGT PHGDH SYT1 MKKS CDC6 EDN3 TANGO2 RET SCN4A ZFP57 GDNF COL7A1 AKT1 MUTYH ARMC9 SDHB CYP27A1 GABRA2 TERT SALL4 APC OSGEP ALDH18A1 PAX3 ITGA2 USP7 SLC2A2 LPIN2 SMC3 RB1 TBCE VAMP1 CD3G GLRA1 H19 PSEN1 NDUFAF3 MECP2 WNK1 TWIST2 RBM10 SRCAP PIK3CA LMNB1 KIFBP SHROOM4 SLC46A1 CHRM3 TXN2 TBX4 UBE2T SETX COL7A1 TPM3 SLC9A3 FLAD1 SMAD4 F10 ZSWIM6 SH3KBP1 CD79B PIGO LMNA FREM1 SLC9A7 ABCB1 FBN2 FUZ ASCL1 JUP GREB1L FAH KIT RIPK4 GDNF GATA6 ALG13 MRPS34 TRAPPC11 ARF1 DHCR24 RFX5 KLHL40 HNF1A KEAP1 CHD7 SLC52A3 TERC RRM2B EDNRB MITF PIK3C2A STAT6 SH2B1 C19ORF12 FGFR1 ARNT2 HTRA2 SLC19A2 IRF1 SEC23B PYROXD1 PARN SETD5 MGMT RPL10 DLX4 GP9 TCF3 NRXN1 MYO9A MECP2 HLA-B NOTCH2 GRIP1 DACT1 BUB1B MC1R ARID2 BRAF GAS1 MBTPS2 SOX10 PLG PARN SRC TRAPPC11 GDNF TPM2 TRMT10C RFXANK CAV1 SLC25A24 BMPR1A CASP8 DHCR7 TSPYL1 HNF1A ST3GAL5 RNASEH1 GRM1 TRIP13 IL23R MTTP PMS1 RFXAP KCNA2 ACTA1 ATXN1 FLNA ADNP FANCA MSH6 TTBK2 RRM2B TMPRSS6 POU6F2 APC SON PIK3CA FANCM ATP6V1A RET ARHGAP31 RBM8A FBXO7 HELLS EPCAM MEN1 TERT UBA5 HESX1 FA2H TRIP13 ZAP70 UBR1 CDKL5 AKT1 APC MYF6 NXN TBK1 RASGRP1 PPP2R3C MYORG MRE11 TCF4 ND5 IL10RA LRP2 HLA-B GTF2I DLC1 IRF5 KCNJ11 SYNGAP1 BTNL2 SLX4 OPA1 CYBA TP63 RAD21 KLHL7 DKC1 ORC4 VANGL1 ARPC1B PPP2R5D TCOF1 PCSK1 SRCAP CTNNB1 PLG PTCHD1 VWF USP27X ATXN3 PGAP2 WDR26 FANCI PYCR1 LYST TP53 UPB1 MUTYH ANTXR2 MMP1 PDX1 TANGO2 ATXN8OS KIF5A FIG4 BMPR1A WWOX RPL10 ERLIN2 CIITA SI GPC3 TPM3 PEX16 FOXG1 CYP7B1 PALLD VAMP1 PLCG2 GATA6 OSGEP ZNF711 TRNE PARS2 TTC7A FLNA OTX2 FARSB DDHD2 VAPB ARL3 NONO MED12 HNF4A NUP107 MLH3 SPG11 TMEM231 FMR1 AHI1 CHN1 CBLIF MYOD1 SEMA3E RERE CCN2 KLHL40 LAGE3 WT1 SRP54 ABCC8 DYNC2H1 ATRX GPC4 ALS2 IGHM ATP1A3 PHOX2B FGF12 BCR SPINK1 SDHD DDX59 IL6 MAP3K7 GABRD CTBP1 NOTCH1 ATP8B1 LAMC2 ADH1C PEX12 MKS1 IRAK1 EDN3 HCFC1 SACS DAXX TBK1 MST1 SLC6A9 TGFBR2 EXOC6B TCTN1 TNFSF12 FTL DOK7 TCF4 ITGB4 APC TRIM28 DNAJC21 MED17 NECTIN1 NAB2 RECQL4 KRAS CLCN4 EDN3 FLNA MVK C12ORF65 PIK3R5 FAM13A SFTPC CDKN1C TYMP KRAS GDAP2 PALB2 MED12 TK2 TMEM67 TEK RYR1 NHP2 MCM6 FGF8 IL1RAPL1 TDGF1 SNRPB QDPR CDCA7 CACNA1A IGH RET CAMTA1 SOX10 PGAP3 F8 CACNA1G ATP6 TRNQ LONP1 SIN3A PAX4 COL7A1 FGFR2 VPS35 PAK1 CC2D2A MDM2 SNCA NEK1 PQBP1 WAS ATXN3 CHMP2B CFTR KDM6A TGFBR1 FANCE ICOS RFX6 IL12A LIG4 KIF23 PARK7 HLA-DRB1 MKS1 CACNA1G DMP1 COQ4 ADA2 SMC1A GMPPA MLH1 GFI1 RET RNF125 COX7B FANCD2 SOX2 ACTB DYNC2H1 NEK1 DDX59 PALB2 GLA IL1B DSP TERT FOXE1 MAP1B IQSEC2 WDR73 ABL1 STXBP1 RFWD3 DLG1 NEUROG3 ND1 ERLIN2 TGM6 FXN CDKN1B NEK9 TNFRSF13B FANCL FRAS1 SPG21 ND6 WDR73 HIVEP2 SKI UBTF EXT2 SLC5A7 STAG1 FLT1 COMT GBA ACTB ATXN8 WASHC5 NAA10 WAS AK2 TRMT5 TMTC3 SOX10 TGFBR2 L1CAM MYO1H POLG PIGY CARS2 DDOST CHEK2 COX1 LIPA SQSTM1 AHI1 REST BMPR1A ACTG2 SIX3 ND4 PCNA SDHD SEC23B ZNF423 OPLAH FKRP CHRNA1 CNKSR2 PRKRA FANCB HMBS PTPN22 RAI1 HYOU1 HPGD C1QA ELN SLC25A1 CYP27A1 RPS6KA3 USF3 CAV1 ARV1 BUB3 H19-ICR AP2S1 FUS CCN2 CCR1 MTMR14 MAD2L2 EMC1 TMEM237 MSX1 PSPH FOXP3 CD19 TRNV WASHC5 SLC18A3 KIT HMGA2 CLCN1 AARS1 CEP57 TREX1 WNT4 WIPF1 SLC25A13 PEX12 TERC CHMP1A TGFB1 HTT CDKN2A GJB2 MET F5 BUB1 CTLA4 CDKN2C GPC1 GLMN HNF1B HLA-B BRCA1 SF3B4 FLCN SLC6A3 TNFAIP3 JAK3 PRKCD CDKL5 SUFU ABCD4 NGLY1 SNCAIP ATXN7 IRF2BPL COLQ PIGT L1CAM ARHGEF6 PEX26 GLRB POLR1D TK2 SIN3A CARMIL2 PITX2 WFS1 CISD2 LRRC8A LIMK1 SNCA WNT2B IRF6 SERPING1 TBL2 TWNK PMPCA TGIF1 POLR3B WDR4 CDC45 ENPP1 DGAT1 TWIST1 MEIS2 CPLANE1 STRA6 YY1 FCGR2A FBXL4 AFF4 SCN4A KIAA0586 FKTN SOX2 GREM1 RTEL1 NEUROD2 MMP1 ALG3 TP53 SLC6A8 ARNT2 HIRA ARSA EXOSC9 REV3L CCBE1 APP ELANE SLC35A2 COL18A1 RAD21 GDI1 DGUOK KMT2D ATXN2 POLG EDN3 SEC63 CHD4 PIGO NBN FANCF PLA2G6 DACT1 TP63 PLVAP FAS SIX1 TP53 HLA-DPB1 MATR3 PTRH2 ELN GNA11 RLIM TMEM138 SLC35A2 PANK2 RFXANK IRF5 ITGB4 ALS2 POLR1C KCNJ11 SCN3A DPP9 DNMT3B PIK3CA NLRC4 ASCC1 PTDSS1 IGF2R MPZ HNRNPU BTK TRNL1 EPCAM NDUFA9 FLNA ERGIC1 ATRX PRKCSH F9 PIK3R1 COL3A1 CHST14 ALS2 GRIN2D ECE1 NDUFAF2 GUCY2C KLF6 IQSEC2 SAA1 SPG7 CEP120 ATRX NEXMIF GJB6 ATM TNXB RTEL1 IRX5 GDF2 PMS2 HBB PUS3 PIGV GP1BB SALL4 LETM1 PNP COMP TRIM28 DCTN1 RAD51C CDC73 IL21 MYMK PIGL PIK3CA CEP120 KLHL41 FH HNF4A BCOR SLC30A2 MYD88 ABCA3 JAG1 TMEM70 NPM1 IKZF1 SCN9A PHKA2 DICER1 GNAQ CDH11 NOD2 LRRK2 WNT3 DNAJB6 FLVCR1 ZEB2 B3GALT6 TNXB PABPN1 MLXIPL COL13A1 VAC14 NEB SIK1 GUCY1A1 AP1S1 TRIP4 FGFR2 ECM1 TGFBR2 ALDOB KCNQ1OT1 POGZ TBP ARX PACS1 CAVIN1 PPARG ELP1 BAZ1B FRG1 IL12B TPRKB CHRNG TGFBR2 SCN8A ABCC6 IDH1 CPLX1 BCL10 KRAS HPCA SPP1 CYBB PTEN PMP22 CCND1 NOP10 MSH2 MUC5B GPHN NEXMIF PDP1 JAK2 MMEL1 MBTPS2 SYT2 IGHM MPI EDNRB POGZ RAB39B SYT1 GRIN2D MSX1 SCN3A LBR SPIB NIPBL SYNJ1 CISD2 TET2 PTPRJ MECP2 MPL GTF2IRD1 CREBBP MSR1 GP1BA PRKAR1A MID2 CSPP1 MYOT ATP7A PORCN IDH2 MYO5B ADAMTS3 CXORF56 MLX GATA1 TCTN3 SMAD7 NUP133 MAP2K2 SKIV2L TWNK TTC37 GBA KCNB1 CACNA1A SIX6 SPART TP53 SCN4A DOCK6 RBPJ RNF43 HSD3B7 VPS33A CTRC TRNL1 TGFB1 ANTXR2 STN1 TP53 TINF2 LINGO1 PHOX2B CR2 C11ORF95 PIEZO2 ABCB11 DSE KRT8 ZMPSTE24 LMOD1 GBA TOP3A AGA RPS20 GLIS3 BMPR1A BMPR1A ALDH18A1 CHST14 TRNK TBX1 SLC19A3 PEX11B EPCAM B2M ND1 MAP2K2 GRHL2 ELP1 INS SLC6A5 HBB MEN1 HFE COX2 EYA1 KRT18 MID1 PAX3 HABP2 CORIN CD81 ATXN3 MYH11 LRRK2 TP63 NCF2 H19 SDHD SH2B1 TBC1D23 NBN COG8 ACTG2 EDNRB DCC SPINK5 TJP2 GJB1 HRAS FCSK WDR60 DNM2 LCT CBS SNAI2 ACTG2 LMX1B NDUFB8 COX7B LAMB3 ERBB2 ADCY6 CEP41 FGG MEFV NCAPG2 INPP5E PIGN CDKN1A CCBE1 TMEM216 ACSL4 HMGA2 DCLRE1C AP1S1 SMC3 KANSL1 FGFR1 FREM1 F5 FGA FBN1 SOX5 CENPF UBQLN2 POLG2 SEC24C TSC1 FLNA NUP62 C1R B3GLCT NF1 POMT1 BRCA2 POLG ADAMTS3 PIGN HLA-DRB1 SLCO2A1 FREM1 HCN1 MMP21 APC SDHB LMNA ACVRL1 LMOD3 DIS3L2 PIGA VARS1 COL5A2 RET KIAA0319L FGFR2 CCR6 BMP2 MKKS APC IL1RN MITF LTBP4 FGFR1 TERT PSAP ERCC4 DLEC1 TSPYL1 LRP2 CLMP ARX BRCA2 SZT2 SBDS BRCA1 VPS13A MSH6 HFE TREM2 POLR3A SLC1A4 NPC1 DISP1 PEX5 ERCC4 SLC25A13 FIG4 HPS1 LARGE1 MTTP ELN ITGA6 YWHAG PTEN DCTN4 FBLN5 PEX10 AR RIPK1 DNAJC6 CHRM3 AXIN2 SNAP25 MUSK RAD51 HGSNAT SALL4 NONO KIAA0586 SLC2A10 AFG3L2 RREB1 TWNK ASAH1 REEP1 RPGRIP1L TARDBP FANCC PGM3 SMO EBF3 GYS2 KLLN POMT2 STXBP1 G6PC F11 RAI1 ABCC2 HLA-DRB1 DLL1 EPHX1 WRN SBDS OTC GP1BB EFL1 COX4I2 NOP56 ATP13A2 CYFIP2 CDKN2B DIS3L2 RAD51C ABCC6 NRTN FRMPD4 POLA1 CYBC1 HYLS1 SP110 UBR1 CASP10 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB RAC2 ITGA6 ATP7B PNLIP PDGFRL CCND1 STUB1 AXIN2 XYLT1 HOXD13 ENG CHAT CD109 IRGM CEL ZNF81 SLCO1B3 SETX NEFH FRAS1 TRNF ACTL6B TRAK1 PTEN SMPD1 MITF SDHC CLTC PRDM16 ATXN10 FLI1 STK11 COLQ ITCH CNTNAP2 FOXG1 SKI DHODH PKHD1 CHAT SYT14 CC2D2A CTCF ADD3 GLI3 ATRX SCO2 BAP1 ND4 SLC29A3 CD3E RELA UCHL1 B4GALNT1 ARFGEF2 SFTPA2 LBR DDC SRP54 SRP54 SMAD3 EPRS1 AKR1D1 KITLG PEX16 WWOX RERE BACH2 UBB MSH3 TYROBP ABCC6 WNT7A BIN1 FANCL PEX14 ATRX WFS1 POLE DDOST PIGW MYCN DDIT3 PMS1 KCNK9 SERPING1 NSD2 MNX1 GABRB2 POU2AF1 F7 SERPING1 CLIP2 QDPR CACNA1A GFPT1 CAVIN1 RFXAP NRXN1 MUTYH ACD MEOX1 NDUFS3 GNAS GNS CHRNA1 ATXN8 ARX NDUFB11 DACT1 MATR3 POLG2 SHH TUBB4A FOXH1 ATP11A SNAI2 CRYAB TNFRSF13C CEP120 ATAD1 TBC1D24 PROKR2 MAP3K7 UBAC2 POLG NOTCH2 USB1 TSC2 TMEM67 EDN3 UBE3B HSD3B7 RMRP PRSS1 KCNQ1 SCN4A COQ2 HLA-B NGLY1 DNAJC13 NTNG1 BCOR NCF1 ROR2 ACD SLC6A8 ERMARD TGFB2 INTU LIFR ATN1 FGA PIGV ITGB2 B9D1 KRAS NFKBIA LRP12 RNASEH1 POLG PLEC APC ITGB4 USP9X PIGN SDHA XIAP PPP3CA SMAD4 COL7A1 GMPPA BRCA2 DLL4 MYPN DSP SDHB NUP214 RMRP SDHC DNAJB6 MGME1 SLC39A4 TRNW CHEK2 RPL11 EMC1 IL2RA SLC37A4 ATXN8OS STUB1 ARID1B KMT2A SAMD9 TRNH ATP1A3 ATXN7 AXIN2 RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A AP3B2 HCCS PRKCD NEB JAK2 IFNGR1 TBX3 RAPSN FLVCR1 SCARB2 SEMA3C FMR1 AKT1 CCDC47 TBX3 TCIRG1 KAT6A TIMM8A NEFH PTCH1 AP1B1 SERPINA1 FAN1 CDC73 IRF5 FAS FERMT1 CYP7B1 ADAM17 APC CTC1 PLEC NTRK2 VAC14 NPHP3 MDM2 CFTR MYH8 KCND3 XRCC4 SOX3 PLA2G4A BDNF KLF11 ADAR RPS6KA3 IGLL1 CRKL GABBR2 FREM2 VCP POLG ENG PRSS1 TBP NECAP1 PTCH1 SMC1A MACF1 TARDBP MEFV SPG7 DKK1 NCF4 RELA CTHRC1 ATP7A PLA2G6 PEX13 POLR3A CLCA4 JAK3 ABCB4 TNFSF15 CEP104 APPL1 ARHGAP29 PEX6 YARS2 BSCL2 AHCY RAD51D SOX10 SKI IL12A MCOLN1 WT1 FASLG RSPO2 FOXF1 STOX1 PHOX2B BUB1 SOD1 PLAA ENG SDHD CTNNB1 CNTNAP1 HSPA9 ORC1 COG7 THOC6 MYH7 POLR3A VPS13C TRNL1 SLC2A10 KCNA2 GPIHBP1 STS FGFR3 IL12A-AS1 CDH1 WFS1 MYH3 GPC4 SMAD4 RAD50 SUFU MKS1 IL10RB AMER1 GRHL3 HDAC8 RHBDF2 PEX2 BRAF NEB SETBP1 KMT2A ORC6 MASP2 SLC5A7 ASCL1 KRAS ZFYVE26 DCHS1 NEDD4L POLD1 DVL3 STN1 SLC52A3 PTEN SEMA4A UFD1 RARS1 PODXL SMAD4 LRBA FLNB B3GLCT FGFRL1 FGFR2 DNAJC21 ITGA2B FOS EDN3 SERPINH1 DGUOK BRCA2 NFKB2 SNCA NOP10 NDUFB11 JMJD1C FGB PALB2 FAT4 TTC7A ITGA2B C9ORF72 C2CD3 HPRT1 GABRA5 SLC18A3 RAD21 SLC25A22 REEP1 RTTN TK2 CDK4 NCF1 RAD51 EWSR1 AAAS GIGYF2 INHBA FARS2 PEX19 PORCN SEMA3E FGB ZIC3 NEB HYMAI TAF1 NPHP3 IRF6 LBR TNPO3 SLC25A4 CHRNE LRP5 DPYS SYT14 HOXB1 MLH1 SDHC LAMB2 WDR34 SLC52A2 SPECC1L LAMA3 FLCN TRAPPC12 KLHL41 TCF4 GDNF SPG21 STAT4 CTNNB1 STK11 CSPP1 EP300 FGFR2 FGG ASCC1 AMACR GMNN SYP ND2 CDH1 LAMA2 ATXN2 ADAMTS2 GBA FAT4 ZNF41 BLM CDKN2A TNFRSF1A MTM1 SNCA POLD1 ISL1 TPM3 FGFR3 MSH2 TUBB4A NUP88 SLC6A19 ABCC8 PITX2 AGGF1 NALCN PTS SALL4 CDH1 CDKN1B ATXN1 KIT FGFR2 LMNB1 UBTF TECPR2 PPP2R5D MECR TGFB1 PSAP BMPR1A CYBB FANCB STAC3 RNF43 AICDA TERF2IP NDUFS1 SLC6A3 ACTA2 CHRNE HLA-DRB1 ITGA8 MSH6 EIF4G1 WRAP53 PANK2 STXBP1 RFC2 PDGFRA KIT ATP2A2 CEP41 SPINT2 CFTR ZIC3 CCNQ IDS F2 ND6 NOTCH3 TUBB6 FOXC1 INPP5E PIEZO2 EP300 XYLT2 TRNW DLL4 NODAL DOCK8 PFN1 MBTPS2 PHOX2B PRPH ZFPM2 SPINK1 LIPA PAH KLRC4 ALS2 TMEM237 SLC30A10 MYOT POLE NECTIN1 PLAGL1 KCNAB2 PRKN CHD7 BRAF AGPAT2 ENPP1 POLG KIT PPM1D FGFR2 LAMB3 SHANK3 SLC37A4 SLC1A2 MCFD2 CEP290 KIF1A MAPT ALDH18A1 TAF1 SHPK SLCO1B1 DNM1L EP300 SPRTN WNT3 PIBF1 TCTN2 GNAO1 COL14A1 RHBDF2 DAB1 TWNK RETREG1 RYR1 CTNND1 CNTNAP1 HNRNPH2 WT1 NCF2 RAI1 AFF4 LIG4 SURF1 MAPT SELENON TRIP4 GDF3 ITGB3 SHANK3 BBS1 STAG1 ATP1A3 NPHP1 CD79A EFTUD2 CDH1 BRIP1 TWIST2 SLC5A1 IGF2 NIPBL PDGFRA PRKRA BLNK ALG8 PCGF2 MEN1 BRIP1 RNF6 DHCR7 BUB1B RET CNKSR2 POLR3B ACTA1 DYSF AFG3L2 SLC10A2 GCK NOTCH1 KCNK9 NCF4 SMAD4 STAT1 TTC37 TAF1 IL12RB1 CAMK2B C4A TNFRSF13B NR4A2 EDNRB POT1 INPP5E MINPP1 PTPN22 TRNK ATP7A CIITA CLCN4 MAGEL2 STX1A EHMT1 BARD1 IGF2 LIPA MYO9A EEF1A2 FLII TMEM237 PKD1 NOP56 SKIV2L PRNP SFTPA1 CXCR4 SAR1B RTEL1 POLG SLC46A1 CACNA1B DLG3 CD55 TPM3 GBE1 CCDC28B TJP2 TLR4 PLP1 PIK3CA NPC2 FANCB COG4 SDHB CCND1 IL10 ITGB3 EDNRB NALCN NOTCH3 SAR1B F5 PTEN GEMIN4 CASP10 EXTL3 MCEE MAPT STAT4 NPHS1 PLEC ARVCF FTSJ1 RAD51 GBA COX3 ZAP70 AAAS PDGFRB PLAA NUP62 CCNQ PHOX2B TYMP COL5A1 PTF1A IARS2 SEC23A COG6 PIK3CA SLC7A7 CYBA LAMC2 HFE RFX5 MS4A1 PUF60 DHDDS DMPK AIRE TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 AXIN1 EDNRB FLCN BLK NRAS SLC9A6 RRM2B IFT80 AAGAB GABRG2 ATXN8OS FAH BMP4 ITGA2B CDH11 NEUROD1 PINK1 MLH1 FANCB PSTPIP1 SLC13A5 KLHL41 GP1BB KAT6B MYRF SLC52A3 STX3 DCHS1 TTC7A ECE1 HCCS MECP2 APC PRSS2 PLOD1 SALL1 KAT6B GP1BA PANK2 LAMA3 FAS PDE8B SALL1 TP53RK TBCD FREM1 CDON MECP2 GP1BA CHCHD10 CD96 KCNC3 SNAI2 MED12 VANGL1 CDKN2A
Protein Mutations 2
C10D V30M
HP:0001871: Abnormality of blood and blood-forming tissues
Genes 1877
TCAP CTC1 KLKB1 TET2 RPS27 MYH9 SLC25A38 COL1A1 COL5A1 TCF4 RPS24 SERPINF2 ALX4 MPL TSR2 EXT2 EFL1 ATM CAP2 SDHC BCL10 OTULIN CD8A OCRL CHD7 FOXP3 PROS1 ASXL1 PRKCD PLEKHM1 SETBP1 FCGR2C GCDH MALT1 PKLR SERPINC1 THBD SLC4A1 ERAP1 FLI1 CYB5R3 F5 GGCX DNASE1L3 SUFU FOXP1 TGFB3 PIEZO1 VWF KLF1 PGK1 VPS13B LOX CTRC EGLN1 SOS1 GINS1 EIF2AK3 MECOM FASLG GP9 F2 TNFSF12 KIT LMNB2 NDUFS3 AEBP1 GNE XRCC2 SLC29A3 EPO COX6B1 SPTB VHL SGPL1 GNB1 SRD5A3 CBFB SPARC MLH1 AEBP1 EPHB2 TGFBR3 NHP2 CLPX NFKB1 FCGR2B F13B TRNS1 PTEN PTPN11 MPL PRLR NUTM1 STAT3 TEK SERPINF2 FBN1 STAT3 SSR4 FKTN TPMT SLC2A1 PARN NRAS VPS13A GBA SSR4 LEPR BLM ACVRL1 KRT14 ANKRD11 SH2B3 DNMT3B RAD54B IFNG RPS19 RPL35A HLA-DPA1 GUCY1A1 SDHB CXCR4 GPI ECHS1 AKR1D1 ACD MPL RUNX1 MAN2B1 ACSL4 HBG1 MVK PROS1 STAT1 FN1 JAK2 AMACR PFKM GP1BB KCNE5 GATA1 BRCA1 ZBTB24 RFWD3 PIK3R1 HBA1 NDUFS2 TGFB3 RPS28 COL4A2 COL7A1 JAK2 MPI SMPD1 RPS17 ABCA1 ICOS NUMA1 DKC1 LIG4 NBAS ITGB3 ND5 SDHD PEX3 SMAD4 BCL6 MYC STAT5B GBA LMAN1 PMM2 JAK2 NTHL1 FLNA STIM1 HOXA11 VHL MRPS7 EPHB4 MMUT TGFB1 BRCA2 F13A1 SCN5A SLC17A5 ORAI1 GFI1B NABP1 PUS1 SLC19A2 NSUN2 PHKG2 CYP2C9 NBN KRAS TXNRD2 STAT3 PEX1 SRC PRF1 EOGT PHGDH HLCS FERMT3 LAMB3 ATM COL7A1 MYH9 THPO NDUFA10 TERT TF MECOM PIGT NPM1 NDUFS1 ITGA2 KCNJ11 KIT SLC4A4 LPIN2 CASR TPP2 COL4A5 CD3G NDUFAF3 ABCG8 CASP10 CYB5R3 RBM10 SLC46A1 UBE2T TACO1 COL7A1 RNASEH2B NDUFA9 GSS SMAD4 F10 PSTPIP1 BCR CD79B RPL18 RPS26 IKBKG FAH COX20 GATA6 FANCE RIN2 ARF1 HBA1 KIF11 RFX5 NPHP1 CHD7 OCLN TPI1 MPIG6B GNAS CLPB PSAP FOXRED1 CARD9 PHGDH SLC35A1 CARD11 RRAS NOD2 APOB SDHC HTRA2 SLC19A2 BAG3 RIN2 LYST RPL5 GP9 TCF3 FECH CACNA1S HLA-B CIITA HAMP CDAN1 PROC CBL ADAR GTF2E2 PLG RPS17 PARN COL3A1 RFXANK BMPR1A STX11 TET2 GALC ADA2 HNF1A SH3GL1 TTI2 IL23R PMS1 FGG RFXAP COL4A1 FLNA PRF1 COG1 MTAP FANCA MSH6 AMN NDUFA13 COL5A2 SERPINC1 PRLR CD151 MYH7 TONSL GTF2H5 PIK3CA FANCM KCNE1 GGCX VHL ABCA1 CAPN3 PIEZO1 ARHGAP31 RBM8A PSEN1 CTLA4 RPS15A HELLS GFI1B EPCAM NF1 HPRT1 TRIP13 MPLKIP RAG1 MYLK RASGRP1 MLLT10 MTHFR PDHA1 F5 TNFRSF11A IL10RA PCNT HLA-B CTRC SMARCD2 PLOD3 SPTA1 PTPN22 SLC17A5 KCNJ11 F12 TFR2 TREX1 BTNL2 SLX4 TNFRSF13B OPA1 NEXN CYBA GATA1 ADAR DKC1 ARPC1B FGB VPS45 ALG12 SCO1 CR2 VWF SMAD3 GATA1 RPS15A APOE FANCI LYST TET2 STT3B ATOH7 ABCC9 HBG2 MMP1 RPSA HBB PDX1 JAK2 COL17A1 LYST HBB RNASEH2A PIK3CA C2 CIITA SFXN4 RET PEX16 HBB-LCR CYP7B1 BRD4 GNAS GSS A4GALT F13A1 TTC7A FLNA FARSB GATA1 KRT14 HNF4A MLH3 CLCN7 CLPB GDNF TAF1A GBA CBLIF ALG2 GATA2 ARL6IP6 G6PD TERT IL2RG KLF1 RNASEH2C SRP54 ABCC8 SLC20A2 CYP2A6 IGHM FOXN1 SLC2A1 TAZ TMPO NOTCH3 CYP4V2 SCARB2 CD70 SPINK1 MUC1 FAM111A RAB27A NOTCH1 DPM1 RAG2 LAMC2 PEX12 NT5C3A RNU4ATAC IRAK1 DAXX MST1 RAF1 NHEJ1 TNFSF12 GNAS TRMU KCNQ1 ALAS2 PDE4D CBL TCF4 NHP2 SLC39A13 CCM2 APC DLL4 TERT DNAJC21 UNC93B1 CTSK HBB RYR1 AKT1 FLNA MVK G6PC3 ANK1 TEK NHP2 ETV6 CFH RIT1 UNC119 HBB RAG1 STEAP3 PPCS CDCA7 IGH CCND1 DCLRE1C VPS33B PGK1 F8 LMNA TRNQ PAX4 COL7A1 MDM2 COX8A PTF1A WAS ABL1 KDM6A FANCE ICOS SDHD LIG4 KIF23 HLA-DRB1 FANCF TET2 TSC1 SLC4A1 NDUFS2 STT3B ADA2 TGFBR2 GFI1 CFTR FOXN1 FANCD2 FKBP14 ATP11C VHL GLA CDC42 TERT ARMC5 SLC25A11 MAP1B BIRC3 STXBP1 ASAH1 RFWD3 NAXD GLA TNFRSF13B FANCL YARS2 F7 THRA GBA AKT1 RPL27 PLOD1 FIBP FLT1 COMT MVK GBA KIT MTFMT CFB WAS NFKB2 AK2 TMTC3 TGFBR2 UMPS CDC42 SLC4A1 TRNS1 FADD PARN DDOST CHEK2 COX1 LIPA ANGPTL6 GCNT2 GATA2 ACTN4 ABCB7 ZBTB16 FUCA1 BMPR1A ND4 CAPN5 KCNN4 PTEN TREX1 SLC2A1 GLB1 RPS27 RPS26 PTPN22 HYOU1 HPGD C1QA TGFB1 CBS SLX4 RAG2 PICALM TERC MMUT KCNN4 HMOX1 ENG BUB3 RYR1 FANCA DYNC2LI1 ELANE PET100 TERC CCR1 MAD2L2 MPDU1 ERCC2 KRAS FOXP3 CD3E CD19 KIT HLA-DRB1 GCLC COX14 CSRP3 ACAD9 FLT3 CRIPT CEP57 TREX1 CD3D WIPF1 SLC25A13 PEX12 TERC BCL11B TRNN NDUFV1 BLNK PTPN11 IL7R PDGFRB RHOH F5 CTLA4 RARA GPC1 F13B HLA-B NUMA1 KRAS TNFAIP3 JAK3 EPAS1 NDP GALT ITK PRKCD ABCD4 IDH1 RUNX1 FOXE3 ATRX CLCN7 GATA1 NPM1 COL1A2 PEX26 TAZ ANKRD26 LAMTOR2 ELN EPB41 TCN2 SLC12A3 PRDX1 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SH2B3 OSTM1 CEBPA KLF1 FIP1L1 CPOX TRNT1 CALR SPTB TBL1XR1 TERT IL2RG MDH2 MMADHC ICOS FBXL4 MARS1 TNNC1 RASA2 GREM1 VCL ACP2 MMP1 NDUFAF2 ATP7B TP53 HBB TGFBR1 CLCN7 SCN11A SOS1 HIRA DPM2 TFAM CCBE1 APP ELANE NUP214 KMT2D SEC63 ADAMTS13 BUB1B NBN FANCF CARD11 CD36 PLVAP FAS PTH1R PDGFB CLCN7 ADAMTS2 WAS PCCB HLA-DPB1 ARHGAP26 DLST PGM3 POLE ADA PANK2 GDF2 RFXANK CYP26C1 UROD SIK3 SEC23B RPL31 TP63 HBG1 DNMT3B NLRC4 BMPR2 COQ2 PFKM BTK NBEAL2 EPOR ITGB4 TBX2 NDUFS4 RASA1 MAT2A CASP10 ATRX PRKCSH F9 SOS2 PIK3R1 RRAS2 COL3A1 CHST14 HAX1 GNAQ PRDM5 SDHB PRKAR1A ITGA2B SLC7A7 CYTB KCNQ1 CDH23 SAA1 ATP6V1A RASGRP2 LBR KCNJ11 CD79A ATRX ANK1 ATM RNASEH2B PRSS1 ETHE1 TNXB SPTA1 RTEL1 IRX5 GDF2 PMS2 GBA HBB HBB TSC2 GP1BB ATR ADA2 CASR SGCG PNP ETHE1 NPHP4 TP53 PSMB8 RAD51C LARS2 CYP11B2 TCN2 KIT AGA SMARCAL1 MYD88 APOE TRAC NPM1 IKZF1 PHKA2 GNAQ GLB1 HPS3 NDUFA2 KRT5 GATA2 TMPRSS6 PLEKHM1 BAP1 TP53 TNXB PGM1 GATA2 LMNA IKBKG ALDOB TGFBR1 CTLA4 IL12B MAX PRDM16 MYD88 ZNF341 ABCC6 IDH1 NDUFS8 TERT GATA1 BCL10 SPP1 CYBB CUBN PTEN NBEAL2 CCND1 NOP10 GP1BA SDHB MSH2 PLEC ABCB6 GLB1 UNC13D TRNW CCM2 JAK2 MMAB RET SDHA IGHM FZD4 ANK1 CFH LBR TAL2 NF2 HOXA11 ANO6 MYH6 NIPBL HBA2 CISD2 TET2 DOCK8 MPL CYCS CREBBP ATP6V1E1 IFIH1 GP1BA THBD SPATA5 SRD5A3 NDUFS7 EPG5 TBXAS1 ATP7A IL2RG MYORG IDH2 FLT3 TGFB2 NR1H4 MLX HLCS CD40LG ERCC6L2 GATA1 TTC37 DNM2 CFI IVD UBE2T BRAF NEU1 DOCK6 RBPJ SERPIND1 RNF43 HSD3B7 VPS33A CTRC TSR2 TRNL1 PNPO PLEC TP53 TINF2 MCFD2 ALG6 CR2 DSE CASK PDCD10 CD3D GBA ACTN1 TINF2 ZBTB20 TACO1 RPS20 RPL35A ACTN2 IL7R TCIRG1 BMPR1A CFI BMPR1A LAT ACVR1 CHST14 ADA MTRR TBX1 PEX11B B2M ND1 EPO MAP2K2 NFIX SAMHD1 INS HBB COL1A2 AIP CLCNKB COL4A1 RPS10 MTHFD1 COX2 FASTKD2 AASS BRCA1 UROS PIK3CD CORIN SBDS CD81 RHAG NCF2 CP TNFRSF1B RMRP RECQL4 B4GALT1 COG8 NPHP4 RHAG BCL11B SLC30A10 SPINK5 SMPD1 REN RPL35 CBS UBE2A LMX1B NDUFB8 FTCD FGG SPTA1 LDB3 MEFV SLC11A2 CA2 PSEN2 ALAD RAG1 RPL26 DCLRE1C F5 FGA STAT3 TAZ CYB5A SEC24C TSC1 RAF1 ELANE ACTC1 C1R APOA1 NF1 AGK ATRX ADAMTS3 TET2 UMPS SLCO2A1 RTEL1 TMEM67 FANCC HBA1 ZNF469 TNFSF11 SDHA RPS14 HAVCR2 MSH2 WRAP53 PEPD ACAT1 SPTA1 ACVRL1 PIGA RS1 COL5A2 DOCK2 KRIT1 NDUFA12 SNX10 APC GP6 GATAD1 FGB FHL2 NDUFV2 BCOR MTRR ALAS2 ERCC4 PIEZO1 SBDS VPS13A NFKB1 SDHD IFT140 GBA PTPN11 TREM2 MMACHC NPC1 FZD4 PEX5 SH2B3 MAP2K1 ERCC4 STIM1 FIG4 LAMA4 ITGB4 GLI1 PSMB4 HPS1 DNASE1 HBA2 ALDOA MTTP TET2 LRP5 CALR SRSF2 RPS7 NDUFAF6 PEX10 NPHP1 RPL15 FMO3 MMUT RAC2 F11 KIF1B RAB27A SLC2A10 RREB1 SLC2A1 SLC19A3 CST3 MPL SLC35A1 FANCC CD46 PGM3 F9 SLC4A1 SLFN14 LRP5 NFKBIL1 CYP4F22 G6PC RPS7 F11 MCM4 ABCC2 HLA-DRB1 AMMECR1 SERAC1 ABHD5 TICAM1 SARS2 SBDS TERT GP1BB EFL1 COX4I2 STING1 KRAS CA2 FARS2 ABCC6 DKC1 CYBC1 USP18 MAX WAS SP110 PALB2 UBR1 PUS1 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB MEFV RAC2 PIGL MPL ATP7B RPL27 USP8 LCAT CCND1 C3 XYLT1 TERT ENG CD59 CD109 CEL TBXA2R DPAGT1 SRP72 MPO TRNF LPIN2 CD247 VKORC1 COL3A1 DNAJC19 PTEN SMPD1 AK2 FLI1 STK11 BEST1 RPL11 CALR ITCH CRYAB PTPN22 COPA TUBB1 CFHR1 PRKAR1A CTCF RPS29 ATRX SCO2 DGKE MYSM1 USP8 SLC29A3 KIF1B CD3E ZMPSTE24 MTR PML ARFGEF2 TRNT1 VHL SRP54 SRP54 SMAD3 SLC27A4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 TYROBP ABCC6 COL3A1 TDP2 C1GALT1C1 GSN FANCL SDHB PEX14 ATRX HSPA9 ABCC8 BCL2 TERC SF3B1 TTN CYSLTR2 SMARCB1 F7 SERPINE1 USB1 SLC22A4 HBB GATA1 PSMB9 RFXAP COL4A1 ACD CP TMEM127 GYPC ABCB7 IGH CD28 FANCI FAM111A LMBRD1 HBG2 FYB1 TMEM127 RHAG ALDOB TNFRSF13C TBC1D24 CD27 UBAC2 ACAD8 RFT1 NLRP3 PNP USB1 TSC2 PTPN11 GNA11 ADA HSD3B7 RAG2 RMRP PRSS1 FDX2 VKORC1 CLCN7 NGLY1 TF NCF1 JAK2 SCN9A SEC61A1 F2 ERMARD TGFB2 STEAP3 LMBRD1 RB1 MYH11 TARS1 CLDN1 RET FGA TNFSF11 BRIP1 PNPO APP ITGB2 COL1A1 P2RY12 AMMECR1 RPS10 KRAS SDHAF2 TRAF3 PDGFRB HBB GATA2 ITGB4 SAMD9L TNNI3 GNAS MYBPC3 IGH SDHA TPM1 FANCD2 SDHA XIAP TCIRG1 NHLRC2 LIG4 PRKAR1A COL7A1 BRCA2 KCNJ1 DLL4 RMRP SDHC HBA2 NUP214 EPB42 C1S TRNW THPO RPL11 IL2RA KIT PRKAR1A BCS1L MYPN SAMD9 PACS2 TRNH KRT14 PLAT TCF3 RPS19 GPR35 HPS4 TBX1 PRKCD KCNJ5 SGCD ACTA2 SCARB2 NLRP3 APOE TCIRG1 RAG2 FLI1 DNMT3A FAN1 PKLR FAS FERMT1 CYP7B1 PROC HADH ADAM17 VPS13B PRKACG LPP BLOC1S3 TBK1 ATP6V0A2 COLGALT1 CTC1 TAL1 RNF168 LIPT1 IFNGR1 BCL10 COL1A1 XRCC4 GALT PLA2G4A KLF11 SF3B1 WDR19 GNAQ IGLL1 SURF1 TALDO1 FGG AGXT PDCD10 MPL MMADHC HK1 GP1BA ENG PRSS1 PDGFRA PDE11A CTPS1 BAP1 ATP7A TLR3 PEX13 AMMECR1 GGCX FGA XK APPL1 CPT2 PEX6 XPR1 TNFRSF1B YARS2 DCLRE1C EVC2 HABP2 COL5A1 AHCY XRCC4 MYH7 APP IL12A WT1 FASLG IKZF1 STOX1 RPS29 BUB1 PRKACA KRT5 ENG SDHD FGFR2 PSMB8 STS IL12A-AS1 WFS1 MLH1 SMAD4 TINF2 COX10 DOLK ASXL1 PEX2 LYRM7 ATP6V0A2 DHFR RPL15 HBA1 LCK RANBP2 TGFBR2 NDE1 DNMT3A RFT1 LZTR1 NEDD4L WAS STN1 PTEN SEMA4A EPB42 NBN UFD1 MYSM1 APP SMAD4 RNASEH2A LRBA C4A ARHGEF1 DNAJC21 ITGA2B HMGCL RAG1 HELLPAR TNNT2 NFKB2 FBN1 NOP10 JMJD1C RAF1 FGB CD46 HMCN1 PALB2 RAG2 FAT4 DGUOK FCGR2A ITGA2B HPRT1 POT1 TBCE POMP ABL1 FUT8 DES FAS NCF1 PROC RAD51 EWSR1 MMAA INHBA CAT FGA PIGL PEX19 SEMA3E FGB EPB41 IFNG LBR EVC LAMTOR2 VWF LRP5 CCND1 MET RPL5 ITGB3 CST3 CYB5A HBA2 LEP LAMA3 KRT5 IRF2BP2 TCF4 TCIRG1 STAT4 CTNNB1 KRT1 CORO1A STK11 SPATA5 NRAS FGG SF3B1 ACP5 CD19 RPL26 CSF3R DLD AK1 DTNBP1 ADAMTS2 NEBL NLRP12 RPS24 RNF113A HMGCL JAK2 BLM LBR HBB TNFRSF1A EPAS1 KIF15 PCCA SH2B3 ABCD3 BRAF TINF2 AGGF1 RAG1 UROS F8 IREB2 SALL4 CPA1 KIT ALPL BMPR1A DNAJC21 CYBB FANCB LAMA3 RPS28 PLN PDGFB CYP11B1 CACNA1D MSH6 RUNX1 DOLK CD247 HBG2 PADI4 WRAP53 PANK2 ATP6AP1 SMAD3 ERCC3 HRG CTLA4 ETV6 CFTR STK4 F2 ND6 PET100 EP300 CHIC2 NLRC4 XYLT2 HBG1 COX15 DSG2 SCN10A DOCK8 DNAJC19 PRF1 SC5D PIGM PMM2 SPINK1 LIPA HAVCR2 IL10 KLRC4 NOS3 SAMD9L ALAS2 KIF1B SLC30A10 F9 MTOR HBB ENPP1 POLG LAMC2 NLRP3 HPS5 FH LAMB3 SLC37A4 MCFD2 HBD KLHDC8B CEBPE HBA1 JAK2 SHPK ISCU DNM1L ELANE IDH2 MAGT1 GNA14 CAD IL7R ACAD9 ESCO2 HPS6 LRP5 NSMCE2 COL14A1 RHBDF2 MPL MMACHC IFIH1 JAK2 SLC40A1 NCF2 RPL18 LIG4 SURF1 FANCG ITGB3 SLC35C1 MYC CD79A SBDS BRIP1 BCR KRIT1 PDGFRA BLNK ANKRD1 ALG8 CD4 MSH6 APP TALDO1 BUB1B CTLA4 CD81 GCK RAD54L NOTCH1 STIM1 DBH NCF4 SMAD4 STAT1 TTC37 TMEM165 RPS14 BCR CD244 PRF1 MSN C4A TNFRSF13B CALR PTPN22 SPINK1 CD28 ATP7A CIITA F13A1 ABHD5 LARS1 TET2 GFI1 CFHR3 PROS1 MFAP5 PKLR BMS1 SLC25A15 TNFRSF13C SLC4A1 F10 MGAT2 SKIV2L CXCR4 CLN3 RTEL1 SLC46A1 CD55 TLR4 GFI1 TINF2 NPC2 RBM8A PLEC NDUFAF5 COG4 SDHB AP3D1 ELMO2 IL10 ITGB3 DDX41 SAR1B RAG1 RBM20 LMAN1 COA8 TFRC CASP10 EXTL3 STAT4 PLEC ARVCF SH2D1A ERF COX3 ZAP70 C15ORF41 RNU4ATAC RNASEH2C TYMP COL5A1 GPX1 TREX1 NDUFA4 FH GCLC COG6 COG4 SLC7A7 CYBA NLRP1 CBL RFX5 MS4A1 CFHR1 JAGN1 PLAU PUF60 COL1A2 AIRE BPGM TRNS2 BLOC1S6 FANCG SAMHD1 LIG4 TNFRSF4 CFHR3 NLRP3 IRAK4 PRKG1 PRSS2 DIAPH1 SLC4A1 HBA2 BLK SNX10 KIT RRM2B AAGAB ITGA2B RARA CD40 NEUROD1 PHF21A MLH1 FANCB FKBP14 EXTL3 GP1BB XIAP CTNNB1 SPTB PIK3R1 NAGS DMD TTC7A JAK2 APC PMS2 PRSS2 PLEC PLOD1 GP1BA MRAS FAS STXBP2 HBB NBN PTPRC KRT14 VPS33A GP1BA MAD2L2 FECH AP3B1 CDKN2A TBXAS1 ERBB3 A2ML1 WIPF1
Protein Mutations 3
C282Y H63D T315I
HP:0000077: Abnormality of the kidney
Genes 1699
SMC1A MAGED2 NAA10 NUP133 AR COL1A1 IL17RC TCF4 CASR ARX SLC34A1 ALX4 TACR3 ZNF423 EXT2 NOD2 HNF1B CEP290 SETD5 COL4A3 FGF17 OCRL CHD7 HESX1 FOXP3 KCNJ11 CCDC141 PRKCD SOX10 SETBP1 MAFB SLC4A1 MAP2K1 ERAP1 IL17RA DNASE1L3 SMS TP53 TMEM70 KCTD1 PGK1 PRMT7 NDUFS1 NEK8 ALG9 CTRC RAP1B MEN1 PTPN11 EIF2AK3 EFEMP2 GLI2 WDR35 GNB1 SDCCAG8 CEP164 BSCL2 KNL1 HPRT1 LMNB2 WWOX CRB2 PROK2 SLC3A1 ND3 XRCC2 PC COX6B1 SGPL1 REST ANTXR1 EBP RPGRIP1L TMEM67 FCGR2B FGF10 FBLN5 TRNS1 SOX4 H19 PTEN PTPN11 RAB23 FLCN SERPINF2 MNX1 DHDDS SDHC GBA LDLRAP1 SSR4 ZIC2 BBS12 PIK3CA FBN1 USP9X FAM20C AGXT GCK MRPS22 B9D2 HLA-DPA1 PAX2 FLNA BBS1 FAM20A XDH STRA6 ACSL4 SOX17 CWC27 FOXF1 FN1 LIPN GP1BB CCDC22 CTNS SULT2B1 PROKR2 KCNE5 BRCA1 DVL3 POR STXBP1 RFWD3 NDUFS2 HRAS WDR19 ASXL1 CEP55 COL7A1 WDR73 TBX1 NUMA1 LIG4 ITGB3 FGFR1 ND5 SDHD PEX3 GPC3 MOCOS CAV1 RPGRIP1L ADAT3 STAT5B LMAN1 FGF20 SDHB PMM2 EXT2 SRY CCR6 APOL1 VHL DEAF1 MYLK LEMD3 MMUT SPINK5 CLCN5 NDUFS7 CFHR5 OGG1 NPHP1 VIPAS39 PIGA APOA1 SLC17A5 GLI3 KCNJ5 GPC3 NABP1 RARB PIEZO2 CIT UQCC2 SNRPB KLLN NSUN2 NBN WT1 PPP1R15B FAT4 PEX1 CLDN19 TBX18 FIBP DVL1 GREB1L TRNT MKKS THOC6 ZFP57 CEP63 MYH9 FGA KCNA1 CLCN5 SALL4 TRAF3IP2 OSGEP ITGA2 CEP290 PRODH SLC4A4 ND2 SLC2A2 LETM1 LPIN2 SMC3 IFT172 TBX1 COL4A5 H19 NDUFAF3 CAMKMT RBM10 SRCAP CHRM3 LHX1 EYA1 SRY UBE2T TACO1 TMEM67 F10 CEP290 SCN2A EPG5 INF2 ITPR3 WT1 RPS26 FUZ GREB1L FAH CC2D2A COX20 FANCE POU3F4 DHCR24 NPHP1 RBM10 SLC6A17 KEAP1 CHD7 OCLN DCDC2 EDNRB PTCH1 FGFR3 PIK3C2A GALNT3 SH2B1 SOX9 FGFR1 ARNT2 NOD2 TRIM32 SDHC TBC1D24 NDUFV1 AKT3 SEC23B SPRY4 KIF7 SIK1 GP9 KYNU CACNA1S HLA-B NOTCH2 GRIP1 DACT1 HNF1A BUB1B CEP120 C1QBP WT1 BRAF GAS1 MBTPS2 PLG EIF2AK3 SRC TXNL4A ENPP1 YY1AP1 GPC4 CAV1 DHCR7 ADA2 HNF1A CSPP1 BBS12 TRIP13 IL23R CPT2 FLNA NDUFS8 FLNA COG1 ND1 FANCA POU6F2 SIX5 TTC8 CD151 NSD2 SON FANCM LDLR RET VHL GCM2 RBM8A DZIP1L CTLA4 SOX9 ALOXE3 LIPT2 ADGRG2 HPRT1 SFTPC TRIP13 ZAP70 UBR1 DNASE1L3 DSTYK AKT1 HAAO ARL6 FLRT3 NXN RASGRP1 ATP1A1 PPP2R3C CILK1 CFTR ND5 NDUFB11 ARX HLA-B GTF2I DLC1 TMEM237 SON PTPN22 KCNJ11 CEP135 TREX1 BTNL2 TRAF3IP1 SLX4 KMT2D DKC1 APOE SCO1 TMEM231 PLG FREM2 DNA2 PGAP2 FANCI SLC34A1 TRAF3IP1 PDX1 LRP4 TTC8 IL17RD FIG4 PIK3CA SI GPC3 RET PEX16 CPT1A SLC2A9 OSGEP TRNE DSTYK DICER1 CTU2 HYLS1 FGFR2 ARX HNF4A ALG9 NUP107 TMEM231 HOGA1 CHN1 CLPB GDNF WDR34 SEMA3E TBC1D8B ARL6IP6 RERE LAGE3 WT1 BBS10 SRP54 ABCC8 DYNC2H1 ATRX GPC4 COQ8B SIX1 OFD1 B2M ACTB SCARB2 LEMD3 SPINK1 MUC1 SDHD DDX59 SLC36A2 GABRD PEX12 CTH IRAK1 CLCN5 MST1 PAX1 RAF1 VAMP7 RIPK4 WT1 APC TRIM28 SMARCA4 AKT1 RECQL4 G6PC3 FAM149B1 TP63 ARL3 CDKN1C FLNA GNAO1 FGF8 CFH ARID2 TDGF1 SNRPB FLNA DIS3L2 VPS33B PGK1 PGAP3 COL4A4 CTNS F8 TRNQ POLE PAX4 FGFR2 TRIM8 CC2D2A SLITRK6 COX8A PQBP1 WAS KDM6A FANCE GNB1 SDHD ANLN HLA-DRB1 SHH MKS1 SLC25A20 ALMS1 BRCA2 NRAS TSC1 TMEM67 MAP3K7 DMP1 SMC1A ARID1A FANCD2 DYNC2H1 NEK1 DDX59 VHL GLA CDC42 MAP11 PLCD1 FOXE1 ARMC5 SLC25A11 WDR73 PTPN22 DYNC2H1 STXBP1 RFWD3 ND1 HSD17B4 GRIA3 GATA4 KCNJ10 LRP5 GLA FANCL NUP133 FRAS1 ND6 PHGDH WDR73 FIBP NR5A1 FLT1 FN1 COMT WASHC5 BMPER CFB NAA10 MKKS WAS UMOD SOX10 UMPS CDC42 PIGY TRNS1 RAB3GAP2 NCAPD3 HPSE2 COX1 ALG8 ACTN4 REST ZBTB16 HS6ST1 MAFB MOCS2 SIX3 ND4 C1QA ZNF423 OPLAH MET FKRP NUP107 FANCB HMBS PTPN22 RAI1 C1QA ELN PEX19 PAX6 SLX4 CYP27A1 USF3 MMUT HMOX1 BUB3 H19-ICR NDUFA11 RYR1 FANCA AP2S1 DYNC2LI1 CCN2 RAI1 MASP1 TCTN2 CCR1 MAD2L2 FOXI1 TMEM237 MAGI2 SMARCC2 TRNV WASHC5 HMGA2 C8ORF37 COX14 CEP57 BMP4 MCM5 CLDN19 GSN WNT4 WIPF1 TMEM67 CLCNKB TRNN ZNF592 LMNA SCNN1B F5 BUB1 CTLA4 RARA SCNN1G TFE3 CPT1A GLMN SIX5 SLC25A22 HNF1B SF3B4 COL4A4 FLCN JAM3 MYO1E IFT140 EPAS1 SPECC1L CEP55 COQ6 PHYH KCNQ1OT1 BBS7 NDUFAF4 BBS2 CDKL5 MARS1 PIGT NPM1 BBS9 ABCC6 ALG1 SLC34A3 VHL PEX26 TCN2 INSR SLC12A3 PRDX1 WFS1 ETFDH CISD2 COA8 IFT27 OSTM1 IL6 LIMK1 FIP1L1 TBL2 PAX2 CLDN16 WDR19 CEP164 PNPLA6 TRNT1 SDR9C7 ARL6 NADK2 TGIF1 WDR4 TBL1XR1 NPHP1 INPP5E SLC26A1 ENPP1 MDH2 STRA6 YY1 FBXL4 AFF4 KIAA0586 ASPM FKTN ADAMTSL1 TP53 KRT17 SLC1A1 OFD1 TMCO1 XPNPEP3 HIRA PRKCSH PEX7 BBS10 CCBE1 C3 MCPH1 NEK8 RAD21 NDUFAF3 DPF2 KMT2D SEC63 ADAMTS13 BUB1B CHD4 PIGO ANTXR1 FANCF WDR19 DACT1 CEP152 TBC1D20 PLVAP FAS SIX1 CTNS BMPER SLC30A9 HLA-DPB1 SDCCAG8 DLST PGM3 KANK2 GNA11 ADA TMEM138 SLC35A2 LDHA EYA1 CFI ITGB4 NDUFAF5 COQ7 KCNJ11 C1QC HNF1B TP63 WDR19 PBX1 TMEM216 CC2D2A LMX1B TTC21B ITGA3 RPGRIP1L FAT4 COQ2 HNRNPU RAI1 TRNL1 KIAA0753 CASP10 PRKCSH COL3A1 CHST14 TRIP11 BRF1 SDHB SLC7A7 CYTB SLC3A1 CDH23 CYP4F22 IQSEC2 SAA1 CDC73 ATRX ALOX12B GDF2 ALMS1 GBA PUS3 PIGV TSC2 CASR WT1 SALL4 PUF60 NPHP4 DYNC2LI1 TRIM28 SLC34A1 SNAP29 RAD51C CDC73 PIGL RRM2B PIK3CA FH HNF4A BCOR SMARCAL1 IFT172 MYD88 PDE6D JAG1 IKZF1 PYGM DICER1 NUP107 DMRT3 WNT3 HNF4A BBS4 ZEB2 TNXB PRPS1 MLXIPL LMNA ALDOB PGAM2 KCNQ1OT1 POGZ PACS1 CAVIN1 GCM2 PPARG ELP1 BAZ1B MAX TPRKB PEX1 NDUFV2 ABCC6 GATA3 IARS1 WDPCP ACTG1 SPP1 GANAB CCND1 SDHB TMEM138 RET SDHA MBTPS2 NR0B1 CFH FOXP1 FLNA WT1 NIPBL PTPRJ MECP2 NDUFA1 GTF2IRD1 CREBBP IFIH1 ETFB LAMB2 GP1BA THBD PHYH OCRL CSPP1 IL2RG PORCN CLDN10 MYO5B SOX11 PEX1 KCTD1 KYNU B9D1 TCTN3 NUP133 KCNJ10 MAP2K2 TTC37 CFI SPART CHD7 PIK3CA BRAF NDUFAF3 CLEC7A KIF14 VPS33A COPB2 TRNL1 BAP1 NRIP1 PIEZO2 DSE ADCY10 CCND2 LMOD1 DPH1 GLIS3 CFI CHST14 TRNK TBX1 FLNB PEX11B ND1 ELP1 SETD2 INS HBB AIP CLCNKB COX2 FASTKD2 EYA1 FGFR3 SCNN1B UMOD HABP2 CORIN ALG8 MYH11 FAN1 PPP3CA H19 RMRP PLCE1 PLCD1 CDKN1B NPHP4 ACTG2 VHL DCC SLC6A19 KIF14 REN RPGRIP1L WDR60 ACTG2 RPGRIP1 LMX1B NDUFB8 NSD1 FLCN H19 TMEM126B MEFV MAPKBP1 NCAPG2 INPP5E PIGN CCBE1 TMEM216 HMGA2 CA2 PIK3R2 KANSL1 MITF FREM1 STAT3 CENPF PCK1 APRT SEC24C TSC1 GLI3 CRB2 C1R HPSE2 B3GLCT NF1 POMT1 TAF13 ADAMTS3 PIGN ZFPM2 HLA-DRB1 TRRAP FREM1 MAP3K1 WDR62 TMEM67 FANCC AVPR2 IFT122 SDHB TMEM107 BBIP1 WDR4 LMNA ACVRL1 DIS3L2 PIGA COL5A2 B4GAT1 MKKS MED25 APC BCOR LTBP4 APOE MTRR ERCC4 MME EMP2 LRP2 BCS1L SDHD IFT140 SDCCAG8 MMACHC DISP1 PEX5 IFT80 GLI1 HPS1 DNASE1 LARGE1 ELN TFAP2A PTEN WNT5A AVPR2 CPT2 TREX1 PIGP PEX10 NPHP1 CHRM3 AXIN2 HNF1A SALL4 MMUT TELO2 DCC KIF1B CASK PHEX RREB1 RPGRIP1L IGF2 WDPCP FANCC PEX13 CD46 PGM3 WT1 KLLN PEX2 POMT2 BICC1 NSDHL G6PC AMMECR1 DLL1 WRN AQP2 SARS2 SOX9 SBDS GP1BB PAX2 CA2 VDR DIS3L2 RAD51C NDUFAF1 NPHS2 MAX TMEM231 PALB2 UBR1 PRTN3 MSH2 RECQL4 MEFV PIGL ITGA6 ATP7B USP8 H19 LCAT GRHPR C3 XYLT1 TTC21B HOXD13 CD109 DICER1 CEL KYNU FRAS1 TRNF APRT TBX15 TMEM107 NDUFA6 APOB MITF RAB18 PRDM16 CEP41 FLI1 STAT3 BNC2 INF2 SKI COPA PIK3R2 DHODH IFT43 PKHD1 CC2D2A PPP2R1A PRKAR1A IQCB1 GLI3 CD96 KDM6A KCNJ10 ATRX SCO2 DGKE FGFR2 USP8 ND4 PEX6 SLC29A3 KIF1B MFSD2A PML PPM1B VHL AQP2 PCK2 SLC12A1 SLC3A1 WNT4 SMARCAL1 KITLG SC5D BBS4 RERE NDUFS4 MSH3 ABCC6 SLC4A1 SLC22A12 INTU GSN FANCL PDX1 SDHB PEX14 ATRX PIGW CRTAP B9D1 CASR INSL3 INVS NDUFS6 RAP1A WDR11 CLIP2 ERCC8 PEX5 HSD11B2 NPHP3 MKKS COL4A1 TMEM127 ANOS1 MEOX1 CDK5RAP2 FANCI CEP290 TIMMDC1 TMEM127 GPKOW SHH FOXH1 ALDOB TMEM260 CEP120 TBC1D24 MAP3K7 UBAC2 NLRP3 NOTCH2 TSC2 YAP1 TMEM67 ADA RAG2 WDR35 PRSS1 KCNQ1 PEX7 CEP290 WDR60 FLNA NTNG1 ROR2 SEC61A1 F2 POU6F2 BCOR CDK6 CASR ATN1 RET TMEM231 PIGV NOTCH2 CPLANE1 SF3B4 PDSS2 AMMECR1 TRIM32 SDHAF2 SLC26A4 APC ITGB4 GNAS ATP6V0A4 ANOS1 USP9X PIGN PREPL FANCD2 CYP24A1 BBIP1 ITGA8 CPLANE1 BRCA2 KCNJ1 SEMA3A PAFAH1B1 TPRKB MGME1 TRNW RPL11 RNU4ATAC SLC37A4 BCS1L ARID1B APC2 KMT2A TRNH DNAJB11 CLCNKA RNU4ATAC RPS19 GPR35 TBX1 GDF6 ATP6 TFAP2A PRKCD PIGT TBX3 NPHP1 NUBPL TCTN3 SCARB2 AKT1 NLRP3 KAT6A B9D2 PTCH1 IL17F NPHP3 CDC73 H19 NFIA IRF5 FAS NPHP4 LRP4 DPH1 ATP6V1B1 COL4A3 RBBP8 BBS5 PDSS2 VAC14 NPHP3 MDM2 KLF11 AGTR1 WDR19 CEP290 GABBR2 CPT2 FREM2 AGXT C8ORF37 TSC1 AGPAT2 RNF139 MEFV PEX13 ESCO2 AMMECR1 COQ2 YWHAE APPL1 SCNN1A STIL CPT2 PEX6 CCDC141 DCLRE1C PREPL EVC2 FXYD2 BSCL2 FEZF1 LYZ SLC6A20 XRCC4 NUP85 IL12A FASLG RSPO2 ERCC6 SASS6 CLCNKB FOXF1 STOX1 PTPRO BUB1 ENG CTNNB1 HSPA9 PKD2 COG7 THOC6 TRNL1 HOGA1 STS FGFR3 IL12A-AS1 WFS1 NELFA LMNB2 GPC4 SUFU TRIP13 AMER1 COX10 HDAC8 PEX2 CFH KISS1R SETBP1 KIAA0753 KMT2A PEX3 NEUROD2 CSPP1 WDR19 KRAS DCHS1 NIPAL4 MOCS1 UFD1 GPC3 FLNB B3GLCT C4A FGFR1 HGD TMEM216 DNAJC21 ITGA2B YAP1 FOS SERPINH1 BRCA2 HELLPAR CACNA1D FGFR3 JMJD1C HOXA13 CD46 IFNG PALB2 FAT4 FCGR2A ITGA2B ND3 TBCK KRAS GLIS2 HPRT1 FUT8 RAD21 RMND1 NSD1 NDUFS2 RTTN CDK4 RAD51 PHC1 CD2AP PIGL NUP205 PEX19 PORCN SEMA3E PIGQ ZIC3 PROKR2 HYMAI SERPINA1 NPHP3 FGF8 TP53RK SMOC1 EVC LRP5 SMARCB1 CCND1 OCRL ABCG8 PLD1 WDR34 SPECC1L FLCN ERCC4 MKS1 IRF2BP2 STAT4 CTNNB1 MAFB STK11 LEMD3 ETFA ND2 ABCA12 ACP5 MYMK STRADA RPL26 WNT4 TTC21B CDKN1C ROBO2 PRCC TMEM231 ABCC8 AGGF1 RAG1 ANKS6 LRIG2 SDCCAG8 CDKN1B ALPL TRIM37 ADCY10 FANCB ABCC8 SMARCE1 LMX1B DYNC2LI1 NDUFAF2 LMX1B CDC73 MEFV CACNA1D NDUFB9 ITGA8 MSH6 FOXRED1 AHI1 TAPT1 STXBP1 TMEM216 PDE6D RFC2 ERBB3 HNF4A STRADA PUF60 ZIC3 CCNQ ND6 PET100 EP300 XYLT2 SOX18 GNA11 TRNW DLL4 NODAL CENPJ TBX22 MBTPS2 MICOS13 SC5D PMM2 PAH CIT FOXC2 IQCB1 KLRC4 PLAGL1 PEX10 KCNAB2 CHD7 BRAF AGPAT2 LPIN1 HBB ENPP1 SF3B4 ARID1B PIGY FGFR2 LZTFL1 COLEC11 ACE INS SHANK3 SLC37A4 MCFD2 FH CEP290 SLC9A3R1 GATA3 SHPK EP300 TMEM67 WNT3 OFD1 CAD IL7R FGFR2 NDUFS3 ESCO2 TKT GDF6 COL14A1 APC SLC5A2 WT1 DZIP1L SLC7A9 DUSP6 RAI1 AFF4 LIG4 SURF1 CEP83 GDF3 LAGE3 KCNH1 ITGB3 SPRY2 SHANK3 BBS1 STAG1 CYP11B2 NPHP1 WT1 BRIP1 WT1 ALDH18A1 IGF2 NIPBL AGT TMEM126B CLCN5 TALDO1 ARHGDIA NUP160 DHCR7 BUB1B IFT172 HIC1 CD81 GCK HSPG2 UMOD EHMT1 SMAD4 STAT1 TTC37 NPHS1 C4A PEX12 POR INVS MINPP1 PTPN22 TRNK ATP7A TRPC6 TTR OFD1 WNT4 EHMT1 IGF2 NARS2 MKS1 FLII TMEM237 PKD1 CC2D2A PKHD1 NSMF HNF1B SKIV2L MED25 SLC12A3 TCTN2 GBE1 CCDC28B SCN1B ANKLE2 TLR4 IFT27 PIK3CA RBM8A FANCB NDUFB10 MCTP2 CCND1 IL10 NOTCH3 TSC2 COA8 BSND GEMIN4 CASP10 KIF14 TCTN3 ZNF148 STAT4 NPHS1 PLEC ARVCF ZNF687 ROR2 COX3 ZAP70 PDGFRB POLR3A CDKL5 COL4A1 CCNQ TNXB COL5A1 TREX1 FH COG6 LZTFL1 SLC7A7 CFHR1 NUP93 PUF60 LRIG2 COL4A3 FAM20A AIRE GRHPR TRNS2 HRAS HDAC4 FANCG WDR35 KLHL7 CFHR3 TGM1 PYCR2 NLRP3 C1QB FLCN BLK NRAS CYB561 IFT80 AAGAB REN NEUROD1 PHF21A RAB3GAP1 MLH1 FANCB WDR34 EXTL3 GP1BB KAT6B TMEM216 IGF2 NPHP3 STX3 DCHS1 PTH1R HPRT1 SALL1 KAT6B LAMB2 GP1BA PNKP IFT43 NDUFB3 PCSK9 FAS SALL1 TP53RK VPS33A CDON CD96 ABCG5 SNAI2 VANGL1
Protein Mutations 4
C282T C677T K55R Y93H
HP:0000819: Diabetes mellitus
Genes 530
IL2RA HGSNAT ABCC8 RP1 APPL1 ND5 TCF4 GPR101 TRNS2 INSR IER3IP1 TWNK RRM2B HYMAI MAK BSCL2 IFT172 SPINK1 BEST1 XRCC4 HNF1B FSCN2 CTRC PWRN1 TRNL1 KCNJ11 ATM STOX1 ABCC8 ENPP1 CRX COX3 BBS2 CRB1 IGF1R PRKACA TINF2 FOXP3 KCNJ11 TRNS1 IRS2 MAFA HNF1B RP9 PDE4D MST1 TRNL1 WFS1 LMNB2 KLF11 GLIS3 SUFU PDE4D ATP6 DNAJC21 PRPF4 KCTD1 ND1 TUB CYTB RHO INS HBB NDUFS1 CLCNKB ZFYVE26 HFE COX2 CTRC INS GCK EIF2AK3 SAG KRAS GLI2 PALB2 CORIN USH2A NHP2 BSCL2 PRPF6 FGF8 PDX1 LIPE RNASEH2A CNGA1 TDGF1 MERTK AEBP1 PDE11A CP PPP1R3A FOS ARHGEF18 PLCD1 SLC29A3 IDH3B LMNA ND1 TRNQ PRPF3 SLC7A14 NDP XRCC4 PAX4 PDX1 MAPK8IP1 ND3 SNORD116-1 SLC2A2 IPW PTF1A INS CEL PAX4 PTF1A LIG4 HMGA2 HMGA1 NDUFS2 TRNS1 RETN POLD1 PPARG ALMS1 PROK2 FGFR1 PCNT INS LRP6 CAT HNF1A CTNNB1 COX2 INSR POLG2 SCAPER PRCD PCARE HYMAI CFTR DHDDS ZIC2 SLC25A4 LEPR BLM GJA1 KCNJ11 ZNF513 FBN1 AKT2 MMP2 LEP ARMC5 CAV1 PTPN22 GUCA1B GCK GCK PDE8B LMNA NEUROG3 FXN GATA6 SLC16A2 SNORD115-1 PAX4 BMP2 TRNL1 AMACR PTPN1 RAC1 PPARG GJA1 FLT1 PNPLA2 ZFP57 BRCA2 STAT1 SLC30A8 SBDS PDX1 POC1A ROM1 C8ORF37 PDE6B DISP1 CTNS PDE6G COX1 ZMPSTE24 IRS1 GCK LIPE ELN ABCC8 FXN DKC1 RGR HNF1A ND5 SIX3 ND4 TREX1 PROM1 SEMA4A CNBP ARL6 MEN1 TRNQ CPA1 HNF1A CAV1 ABCA4 MAGEL2 ELN TULP1 COX1 REEP6 ABCC8 NDUFA11 PLIN1 NDUFAF2 GCK DHX38 WRN HLA-DRB1 GJB4 NDUFB9 FOXP3 LEMD3 PPARG FOXRED1 DLL1 NDUFS7 MMP14 RP2 WRN RLBP1 SARS2 WRAP53 EFL1 RFC2 SLC19A2 NDUFAF1 TERC CFTR ND6 CDKN2A LMNA SPINK1 STAT3 UBR1 CIDEC ND6 DNAJC3 PLIN1 WFS1 ZFP57 ATM STUB1 HNF1B ARL3 IFT88 BRCA1 CEL TRNC OFD1 TERT DCAF17 TRNF NODAL MKRN3-AS1 NDUFA6 PNPLA2 SPINK1 NDUFAF4 PIK3R1 RDH12 STAT3 ND2 ITCH HNF1A FOXC2 APPL1 IDH3A CASR CNOT1 EDA2R PLAGL1 CYP19A1 POMGNT1 INSR AGPAT2 SLC12A3 WFS1 CISD2 GLRX5 HNF4A IL6 LIMK1 LHX1 TBL2 INS BLK PNPLA6 USP8 SLC29A3 RNASEH2B ZMPSTE24 ARL2BP IMPG2 TWNK TRNF TGIF1 GATA3 ZBTB20 RBP3 KIZ SRP54 PRPF8 TOPORS PEX10 DNM1L GJB3 NDUFS4 DNAJC3 ITPR3 RPGR FUZ NDUFS3 SOX2 GATA6 HERC2 PEX1 TRNW PDX1 TKT FAM161A AR LEPR HNF1A NSMCE2 WFS1 IFIH1 ELMO2 ARNT2 TP53 CEP19 NDUFS6 BBS1 FGFR1 HYMAI NDUFAF3 CLIP2 NDUFV1 SLC19A2 INSR NR2E3 MKKS KIAA1549 TMEM126B CP PPP1R15B KLHL7 CNGB1 GCK GCGR PTRH2 MC4R ADAR APOA5 GAS1 TIMMDC1 STAT1 AGBL5 PARN EIF2AK3 SHH FOXH1 NDUFAF5 PROKR2 WFS1 CA4 KDSR SPINK1 HNF1A TRNK KCNJ11 USB1 PAX4 EYS NEK2 PRSS1 CERKL NDUFS8 ND1 LMNA TRNK MKRN3 ERGIC1 BRAF HNF1B MOG RTEL1 POLG CCDC28B CDH23 PEX6 TRNV NDN LMNA NDUFB10 PIK3R1 KCNJ11 ZNF408 HESX1 KCNJ11 UBR1 GNAS PRSS1 ALMS1 HBB BBS2 GCK CDHR1 PRPF31 SMAD4 AIP NEUROD1 HAMP NDUFB11 TTPA TRNE AKT2 ABCC8 DMXL2 GTF2I CTRC TRNW COX3 POLR3A MTNR1B IL2RA LRAT PRKAR1A KCNJ11 HNF4A PRPH2 RNASEH2C LMNA CLRN1 TRNH OPA1 NPM1 ABCC8 HFE NRL PDE6A APOE GPR35 HNF4A AIRE TRNS2 MLXIPL GPD2 LMNA TTC8 SAMHD1 EDA TP53 NUBPL SNRPN TRMT10A NKX2-5 PWAR1 RPE65 PDX1 IGF2BP2 PRSS2 PRKACA AHI1 CAVIN1 PTCH1 BLK PPARG SPATA7 NPAP1 EIF2S3 BAZ1B SNRNP200 HNF4A POLA1 AHR NEUROD1 NDUFV2 PDX1 PSTPIP1 HJV AIP PALLD HLA-DQB1 TRNE TCF7L2 CTC1 NSMCE2 TTC7A NOP10 OTX2 PRSS2 PRKAR1A XRCC4 SOX3 HNF4A IMPDH1 NDUFB3 IFT140 DCAF17 KLF11 NEUROD1 FOXP1 CDON LIPC PLAGL1 CISD2 NDUFA1 PRSS1 GTF2IRD1 VANGL1 AGPAT2
HP:0001513: Obesity
Genes 469
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R HESX1 MTTP SLC25A4 CCDC141 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CUL4B HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 DHDDS ALB ADRB3 SYNE2 MYT1L LEPR BBS12 ZNF513 NIN ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 BBS1 MOG SYP COMT GNAS-AS1 MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY PDGFB DHX38 DEAF1 HDAC8 NPHP1 RP2 RLBP1 RNPC3 C8ORF37 GP1BB AGRP SETD2 RFC2 PHF6 MC4R FRMPD4 IGF1 USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 POU3F4 FAM161A LEPR ARNT2 HIRA BBS9 GNAS DUSP6 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP MKS1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 PWAR1 RPE65 ATRX PDX1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 3
G20210A P12A W64R
HP:0001824: Weight loss
Genes 325
TRNF SCNN1B WT1 EPAS1 SCNN1A GABRA3 TRAIP COL1A1 PTEN MLX LIPA TCF4 STAT3 INSR LPIN2 HAVCR2 KLRC4 MC2R NPM1 JPH3 KIF1B H19 NOD2 PLAGL1 IL6 MECP2 IL12A WT1 TRNL1 POLG PRKAR1A BCL10 MRAP FOXP3 FIP1L1 KCNJ11 SDHD UBE2T INS CNTNAP1 KIF1B DAXX MST1 PML MALT1 VHL TBL1XR1 IL12A-AS1 TSHR PRNP CDH23 ERAP1 RPS20 MDH2 FLI1 BMPR1A CUL4B TP53 GJB3 FOXP1 TRIM28 B2M ND1 FANCL PDX1 SDHA ATP7B SCNN1G RHBDF2 RBBP8 MPL AKT1 NAB2 JAK2 ERCC5 WT1 COX2 EDN3 TP53 BCL2 JPH3 STAT6 TYMP EIF2AK3 KRAS PALB2 SNCA SEMA4A SDHC LRRK2 BRIP1 DCTN1 ACADM CACNA1S NBN FANCF IGH RET XRCC2 COL6A2 PRNP TSHR BRCA2 IGH HLA-B TRNQ NDP EDNRB UNC80 HLA-DPB1 DLST VPS35 PALB2 HSPG2 MLH1 TRIM37 TMEM127 STAR MEFV KCNJ18 FANCE C4A BMPR1A UBAC2 SDHD CALR PTPN22 KDSR POLG HLA-DRB1 KCNJ11 TRNS1 ERCC2 PTEN TRIP13 PLK4 TP53 RAD51 TTR EWSR1 IL23R PMS1 GIGYF2 F5 STAT3 ATR CHEK2 DNAJC13 BTK HYMAI FANCA MSH6 KRT1 POU6F2 HTT SLC9A6 PLA2G6 SUCLA2 FANCD2 TET2 SLC6A8 GJA1 ATRX PIK3CA PRNP KRT10 FANCM RET VHL CFTR SLC52A2 SDHAF1 SDHB SLC25A11 TLR4 BIRC3 ERCC4 SDHB GCK EPCAM IRF2BP2 LMNA KCNJ18 PIK3R1 HLA-DPA1 KRAS GDNF ACAT1 STAT4 SDHAF2 LRP12 SDHB DIS3L2 IL10 ATM COL5A2 IGH RB1 NNT NALCN PMS2 CYP24A1 BCOR SMAD4 ERCC3 BRCA2 ERCC4 TRIM28 PCNT SDHC BRCA2 RAD51C HLA-B JAK2 VPS13A SLC39A4 SDHD GBA SEMA3D AK2 TRNW COX3 RRM2B TGFBR2 HMGCL POLG UNC80 BRCA1 TYMP GATA4 COL5A1 RFWD3 SNCA BTNL2 SLX4 TRNH COX1 FH IKZF1 NOD2 GATA2 JAK2 REST ZBTB16 ABCC8 NUMA1 GPR35 TXNRD2 ND5 MAFB ND4 SLC11A1 BCL6 CENPJ TRNS2 COL12A1 HMBS PTPN22 FANCG STAT5B FANCI TP53 TGFB1 CENPE SEMA3C CEP152 AVP ABCC8 MPL RRM2B FAN1 FANCC CDC73 IL12B MAX ERCC4 FAS HLA-DRB1 CCR1 MAD2L2 FANCB TRPV4 GJB4 PALLD HLA-DRB1 HLA-DQB1 SLC52A3 EIF4G1 ATRIP PTEN CCND1 HLA-DRB1 RNF168 GPC3 NABP1 SDHB MSH2 ECE1 COL6A1 IFNGR1 JAK2 COL6A3 RET SDHA NRTN PANK2 CDKN2A GALT CACNA1S MLH3 ND6 CTLA4 PRTN3 RARA HLCS CCND1 TET2 ZFP57 HLA-B BRCA1 MPL THPO GNPTAB DCTN1 SDHD
Protein Mutations 2
I148M P12A
HP:0001626: Abnormality of the cardiovascular system
Genes 4077
WHCR CTC1 ABCA12 NAA10 ALOX12B TET2 UBE3A NAA10 MC2R SERPINF2 KCNH2 ZNF423 TSR2 EXT2 NOD2 ATP2C1 SDHC ZNF469 SETD5 IGSF3 PSMD12 BCL10 OTULIN GYG1 FGF17 SGO1 HESX1 FOXP3 CCDC141 PACS1 PRKCD RET PLEKHM1 FCGR2C KCNJ2 GCDH HADHA LMNA MAFB KIF7 RECQL4 MAP2K1 CDH23 PTCH2 ERAP1 GATA4 F5 GGCX ND4L IL17RA TGFB3 CACNA2D1 TMEM70 KCTD1 TUB NDUFS1 VPS13B RAP1B EIF2AK3 EFEMP2 ACTA1 SIM1 CCDC39 GP9 PRPF6 SHOC2 SDHA CNGA1 ANO5 ACTG1 WWOX PDE11A SMG9 PROK2 GNE CHCHD2 XRCC2 LARP7 ARHGEF18 SLC29A3 FGFR3 ELAC2 GDF1 STAMBP PRPF3 CDKN2B KCNE1 VHL KCNH2 KDM5B SPARC BIN1 MLH1 POLG POR GNAT2 FCGR2B F13B SLC26A2 EPHB4 H19 PTEN MPL STAT3 TEK SERPINF2 FBN1 SLC2A1 CDK4 SDHC SYNE1 MYL3 BVES GBA ALB LDLRAP1 LEPR ACVRL1 PIK3CA THOC2 ANKRD11 PDE3A KCNE2 FHL1 SH2B3 PIGS USP9X RPL35A B4GALT7 PAM16 HLA-DPA1 DMD FLNA GUCY1A1 SDHB ECHS1 AKR1D1 BBS1 CFAP410 MYH7 LDB3 TOP3A MAN2B1 POMT1 ACSL4 POLE CFAP300 CWC27 CSRP3 MVK PEX16 PROS1 FN1 GYG1 JAK2 STK36 C8ORF37 CCDC22 TSFM CALM2 SOX2 GATA1 SUGCT GATA4 POR NDUFS2 HRAS TGFB3 DTNA ASXL1 LMNA COL7A1 JAK2 MPI RPS17 HMBS HSD11B2 TBX1 ABCA1 NUMA1 LIG4 NBAS ITGB3 FGFR1 ND5 SDHD PEX3 TRNE DSP AKT3 ACADVL BCL6 FKRP CNBP ATAD3A ERCC2 CAV1 RPGRIP1L ABCA4 ADAT3 MYC STAT5B DNAAF5 GBA CEP57 LMAN1 TULP1 FGF20 SDHB COL1A2 FOXA2 JAK2 SMAD6 STIM1 MTOR MRPS16 HJV ERCC4 DEAF1 MYLK EDNRA KBTBD13 ND5 HDAC8 PEPD LEMD3 F13A1 PIGA VCP SLC17A5 GPD1 KCNJ5 ORAI1 GATA6 NABP1 TKT ARHGAP31 SLC19A2 SNRPB NSUN2 TXNRD2 DSG4 MCIDAS PEX1 PRF1 SYT1 MKKS FERMT3 ANKRD11 ZFP57 ARMC9 LMBR1 NDUFA10 FGA IRF6 TRNC MIF AKAP9 TGM1 DNAJB13 DCAF17 TF CLCN7 ZMYND10 SALL4 NID1 PIGT SCNN1A CACNA1C TRAPPC11 NDUFS1 TRAF3IP2 SLC18A2 FBN2 CEP290 LETM1 SMC3 SDHC TPP2 GLI2 PLCB4 COL4A5 NR2F2 TTN MECP2 SRCAP TBX4 SRY SETX TACO1 COL7A1 RNASEH2B SPAG1 ARL2BP NDUFA9 NDUFS2 SMAD4 F10 TGM5 SCN2A LMNA EPG5 RPS26 FUZ KCNJ5 FAH COX20 COL2A1 UVSSA HBA1 RBM10 WDPCP OCLN RRM2B PPOX TPI1 PSAP TBX1 PIK3C2A GALNT3 SLC35A1 CHRNG ARCN1 FGFR1 ACADL SDHC NDUFV1 HTRA2 SEC23B SPRY4 PARN BAG3 LYST SETD5 POMGNT1 SIK1 GP9 NRXN1 FECH FGFR1 KIAA1549 CACNA1S HLA-B ADAMTS10 NOTCH2 CIITA DACT1 MC1R WNT10A PROC DLL3 CBL C1QBP ARID2 SCNN1B FN1 GAS1 GTF2E2 RPS17 GNAI3 FKRP CRYAB YY1AP1 BMPR1A KDSR CSPP1 BBS12 RNASEH1 TRIP13 IL23R CPT2 ND6 SLC52A2 NEK2 FOXC2 CERKL FLNA ADNP MTAP FANCA MSH6 NDUFA13 SAMD9 COL5A2 POU6F2 SERPINC1 TTC8 NSD2 BRAF PIK3CA KCNE1 KCNJ11 RBP4 SDHAF1 PIEZO1 RBM8A BAG3 SCN4B RAF1 GFI1B MEN1 TERT HESX1 TRIP13 UBR1 PEX13 ELOVL4 TBX5 RAG1 MYLK MYH7 HAAO NXN PRPF31 ALG1 ND5 ATP6V1E1 LRP2 CD79B OTUD6B GJA1 GTF2I PLOD3 TMEM237 PTPN22 PRPH2 LMNA GUSB TRAF3IP1 SLX4 TNFRSF13B D2HGDH GATA1 RAD21 KCNN3 DKC1 SCN5A TCOF1 ALG12 APOE SCO1 PTH1R SLC26A2 CR2 TNNC1 SRCAP VWF SMAD3 CTNNA3 RPS15A WDR26 APOE FANCI TET2 ATOH7 ABCC9 KCND3 TRIO MMP1 TTC8 SCN4A FIG4 MUC5B LMNA GPC3 RET HJV TPM3 KPTN PEX16 CPT1A ATP6 PLCG2 DPP6 DSP OSGEP COL1A2 TRNE MAPRE2 F13A1 LRRC6 FLNA CTU2 OTX2 DDRGK1 HYLS1 MED12 LIMS2 ARL3 NONO PRKAR1A KRT14 DCAF17 APOB MLH3 TMEM231 AHI1 CHN1 CLPB GDNF TAF1A GBA ARL6IP6 RERE NOS1AP TBX6 TRDN TERT LMNA IL2RG TP63 BBS10 HGSNAT SRP54 SLC20A2 NXN NOTCH3 CYTB PCCB HLA-A RPGR TAZ TMPO SCARB2 AKAP9 CD70 TRPM4 BEST1 ABCC8 FSCN2 GABRD ND4 TBX19 MYO18B ERCC6 COX3 ROM1 SIX3 LAMC2 MKS1 IRAK1 CTSH JUP DAXX MYBPC3 CRYAB ALG10B RAF1 EXOC6B ATF6 VAMP7 MYH7 RIPK4 HSD17B10 PIK3CA FTL KDSR SARDH C12ORF57 SLC39A13 CCM2 CYTB DNAI1 SMARCA4 TWIST1 AKT1 PDGFRB RSPH3 FLNA G6PC3 FAM149B1 ANK1 FAM13A CDKN1C SAG KRAS RYR1 KIAA0586 FGF8 RIT1 ARID2 ATP5F1D SNRPB MERTK HNRNPA2B1 STEAP3 PPCS IGH DIS3L2 VPS33B SCN5A PGAP3 F8 LMNA NDP TP63 LONP1 COL7A1 VPS35 TRIM8 CC2D2A ND6 KCNJ18 FANCE ICOS SDHD DUX4 LIG4 KIF23 MKS1 LAMP2 TWIST1 TSC1 SLC4A1 NDUFS2 TNNT2 PRDM6 ABCA1 XRCC2 NAGA ARID1A DHDDS COX7B PEX7 TFAP2B WNK4 ELN DSP FGFR2 FOXE1 ARMC5 NDUFA2 MAP1B BIRC3 GLB1 CNGA3 RFWD3 NEUROG3 NAXD GATA4 GLA SPEG SHOC2 TRDN ND6 F7 PHGDH GBA AKT1 RPL27 SKI NR5A1 PPARG GJA1 COMT ATP6 MVK CFB NAA10 MKKS WAS NFKB2 CYP11B1 AK2 SELENOI TMTC3 ROM1 SOX10 PTEN TGFBR2 CYLD UMPS PIGY ND2 TNNI3 FADD MRPL44 COX1 ANGPTL6 EXT1 CIZ1 DHPS REST ND4 PCNA KCNN4 SDHD TMEM126A GAS2L2 ZNF423 SLC2A1 NUP107 TRNQ FANCB RPS26 CDK13 GJB6 PEX19 TGFB1 KCNQ1 RPS6KA3 USF3 CAV1 KRT16 H19-ICR CYP11B2 LDB3 RYR1 DHX38 PET100 ABCA4 MTMR14 SCN9A GATA5 TMEM237 ERCC2 PCARE DMPK RLBP1 WASHC5 KIT CSRP3 ACAD9 TREX1 DNAAF5 GTPBP3 GSN CD3D PTGIS TMEM67 TERC TRNN CDKN2A NDUFV1 SCNN1B PTPN11 SMARCB1 GJB2 IL7R FGF23 MYL2 RHOH F5 CTLA4 RARA SCNN1G RARB ALDH18A1 PLIN1 HLA-DQB1 IFIH1 CPT1A GLMN SLC25A22 HLA-B IFT88 BRCA1 SDHD ARID1A JAK3 PQBP1 KCNQ1 EPAS1 SPECC1L NDP PHYH BBS7 ITK HEXA PRKCD ACTA1 LAMA4 RDH12 SUFU ABCD4 IDH1 FOXE3 IDUA ATRX GDF1 IDH3A PIGT NPM1 ABCC6 COL1A2 JAG1 MCCC2 EDA2R ANKRD26 ELN SCN5A INSR SLC12A3 BRAT1 FBN1 LIMK1 SERPING1 CEP164 TRNT1 CALR ARL6 TRNF TGIF1 KIZ CDC45 MEIS2 CPLANE1 PTEN TRDN COX3 TOPORS TNNC1 CLIC2 ATR GREM1 RTEL1 VCL PRKAR1A PEX1 MMP1 ADAMTSL1 ATP7B FKTN RGR TGFBR1 TECRL OFD1 TMCO1 SCN11A HIRA FHL1 DCAF8 NEK8 APP KIF7 KMT2D POLG GATA4 HTRA1 SEC63 SCN10A KRAS CHD4 ANTXR1 PTH1R XYLT2 F5 GJA5 SDCCAG8 AUTS2 PGM3 TGDS ELN EGFR RLIM GDF2 IRF5 POLR1C SIK3 CACNB2 SEC23B RPL31 AGL PBX1 HBG1 DPP9 NEXN PIK3CA NLRC4 BMPR2 PTDSS1 ITGA7 COQ2 HNRNPU BTK NBEAL2 KIAA0753 TTC25 TBX2 CRLF1 COG2 MAT2A CASP10 ATRX PRKCSH SOS2 CCDC174 MYH6 RRAS2 CFAP53 COL3A1 TSC1 AHCY RHO BRF1 ECE1 ITGA2B CYTB SLC26A2 PEX6 GJB2 ACTA2 LRP1 GJB6 GATA6 ATM NEB ETHE1 PMS2 MEOX1 SOX10 PIGV TSC2 GP1BB ADA2 AIP NKX2-5 DSP LETM1 SGCG NDUFS4 ETHE1 TP53 SNAP29 RAD51C CDC73 CACNA2D1 MYMK EFTUD2 CEP120 GJB4 SOS2 BCOR FAM111A MYD88 ABCA3 JAG1 TMEM70 APOE IFT81 PYGM PHKA2 PSEN2 NUP107 GNAQ NRL DMRT3 NSD1 HPS3 NDUFA2 KRT5 BBS4 PLEKHM1 BAP1 CFAP221 B3GALT6 TNXB GUCY1A1 PGM1 AP1S1 SCN9A ALDOB ADK KCNQ1OT1 POGZ CAVIN1 CTLA4 FRG1 PRDM16 TGFBR2 SLC29A3 NDUFV2 GNB5 ABCC6 IDH1 NDUFS8 FBN1 GATA1 KRAS SPP1 GANAB CYP21A2 NBEAL2 CCND1 NOP10 MSH2 MUC5B FBN1 PLEC KCNQ1 UNC13D CCM2 LTBP2 JAK2 MMEL1 MYH6 SDHA FZD4 FOXP1 FLNA SPIB NF2 HOXA11 BMP2 FOXC1 WT1 MYH6 SMAD4 CALM1 CCDC151 CLCN2 MPL GNAQ SDHD CREBBP IFIH1 THBD PHYH SRD5A3 EPG5 IL2RG PORCN IDH2 ERCC4 TGFB2 MYO5B PEX1 KCTD1 MLX COX3 KYNU B9D1 SMAD9 TCTN3 GPR101 VCL MAP2K2 TTC37 IARS2 PIK3CA BRAF PDE6H TNNC1 DOCK6 SERPIND1 VPS33A TRNL1 TGFB1 TINF2 CERKL PRKG1 PHOX2B EBP GM2A AGT PDCD10 CHKB DNMT3A BAG3 LMOD1 GBA CPN1 AIP MYOT ALKBH8 TACO1 AGA GJA1 RPS20 ACTN2 IL7R BMPR1A BMPR1A LAT DNAAF4 NDUFB11 LCAT PEX11B B2M ND1 MAP2K2 DOCK6 PIK3CA NFIX POMT2 ELP1 SETD2 DCLRE1C HBB MEN1 CAV3 COL4A1 RPS10 HFE TSC2 FASTKD2 GCH1 FGFR3 IRF8 SCNN1B HABP2 RHAG SCNN1G ACADM OTX2 FBP1 PDSS1 NDUFA11 MTM1 KCNQ1 MARS2 TUBB DSG1 COG8 ND1 SLC7A14 CASQ2 TJP2 NDP WDR60 ACTG2 LMX1B MYOC MAF NSD1 TGFB3 EIF2AK4 FGG TMEM126B MEFV NCAPG2 CDKN1A CCBE1 TMEM216 IRF8 CA2 PSEN2 RAG1 PIK3R2 NEK1 RAF1 FGFR1 FGA APOA5 STAT3 FBN1 CENPF TAZ POLG2 SCAPER SEC24C RAB3GAP2 FLNA CRB2 C1R HPSE2 APOA1 B3GLCT NF1 NF1 CIB1 AGK POLG ADAMTS3 SCN5A MAP3K1 CAV3 KCNH1 MMP21 CFTR FANCC AVPR2 ZNF469 TNFSF11 SDHA SDHB SDHB BBIP1 SPTA1 FBLN5 RS1 KIAA0319L NDUFA12 MKKS NPPA MED25 CHST3 GP6 BCOR LTBP4 SLC25A4 MTRR ALAS2 DLEC1 B3GALT6 PIEZO1 SGCD COQ2 ARX AKAP9 BRCA2 VPS13A PTPN11 GNB5 DISP1 AGK SH2B3 IFT172 MAP2K1 SMARCE1 STIM1 PDE6G FIG4 KRAS DNAH5 PRKAG2 PSMB4 DNASE1 DMD ADGRE2 ELN LRP5 PTEN LMNA WNT5A DCHS1 CAV3 COQ9 PROM1 PIGP PSMD12 PEX10 NPHP1 MEN1 CHRM3 HADHB SALL4 TELO2 FHL1 TTC25 GPX4 ALB DCC KIF1B RAB27A KIAA0586 CASK SLC2A10 REEP6 SLMAP RREB1 FOXE3 TWNK CST3 CLDN1 LFNG RAF1 SLC35A1 IGF2 FANCC CD46 PGM3 KLLN LRP5 RPS7 RAI1 POLH COL2A1 WRN SARS2 GP1BB KCNA5 KRAS CDKN2B CA2 RPE65 DDRGK1 COG5 ND6 USP18 CACNA1S TMEM231 HYLS1 PALB2 UBR1 C1R PRTN3 MEFV USP8 FGFR2 ABCC9 HOXD13 ENG CD109 C8ORF37 DSG2 TBXA2R OFD1 TP63 TMEM107 COL3A1 PTEN SMPD1 MITF SDHC PRDM16 FLI1 CRPPA STK11 STAT3 MYL4 NFE2L2 CALR ITCH PEX6 ZAP70 PTPN22 COPA PIK3R2 CC2D2A HFE PRKAR1A SCO2 KIF5A PEX2 BAP1 PSAP USP8 SLC29A3 HLA-DRB1 PML NKX2-5 ARFGEF2 SFTPA2 GATA4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 RERE BACH2 NDUFS4 MYH11 SGCD RPGR IGF2 TDP2 TERT INTU GSN FANCL SDHB ATRX FUCA1 MEF2A ELMO2 CRTAP SERPING1 NSD2 MECP2 GLRX5 MNX1 CASP8 TTN HADH CYSLTR2 SMARCB1 RAP1A WDR11 KLF13 SERPING1 FLT4 PEX5 USB1 SLC22A4 FSHR ALOXE3 HBB PSMB9 NRXN1 ANOS1 CHST3 KRAS IGH ACVR2B FANCI HSD3B2 SCN1B GNS POLG2 IRF8 TIMMDC1 ATP11A TNFRSF13C CEP120 PROKR2 MAP3K7 CD27 SGSH ACAD8 NFIX NOTCH2 USB1 TMEM67 ADA WDR35 COQ2 CEP290 CCDC115 NGLY1 CCDC22 TF POMT1 IL2RG NCF1 SCN9A F2 ERMARD TGFB2 INTU RB1 MYH11 ACTA2 LIFR FGA TNFSF11 SCN2B TMEM231 PIGV NT5E MYL2 PROP1 SF3B4 COL1A1 CHRNA7 PDSS2 LMNA CNGB3 AMMECR1 TRIM32 SDHAF2 HBB TNNI3 GNAS MGME1 SDHA TPM1 FANCD2 COL3A1 LTBP4 CYP24A1 BBS2 POMT2 SMAD4 NHLRC2 PRKAR1A ITGA8 MIB1 SEMA3A SDHB PAFAH1B1 SDHC TRNW PPP1CB THPO PEX6 RPL11 MYPN IL2RA BCS1L CYLD APC2 MYPN RSPH9 SAMD9 TMC6 PACS2 TRNH ATP6V1A GATAD1 DNAJB11 NLRC4 GPR35 TBX1 ATP6 TFAP2A HCCS NEB JAK2 KCNJ5 FLNB PIGT TBX3 NPHP1 MEGF8 TTN ACTA2 NLRP3 TBX3 APOE TCIRG1 AHI1 PLN IL17F PKLR NPHP3 CDC73 IRF5 FAS MRE11 NPHP4 FBN1 ALOXE3 PROC HADH MYPN RBBP8 BBS5 PRKACG AIRE COLGALT1 GTPBP3 SFTPB FADD RYR2 RNF168 IFNGR1 GAS8 PEX16 COL1A1 XRCC4 SOX3 DSP AGTR1 KCNJ2 TRPV3 CRKL SURF1 TNNI3 CYP11A1 MYH11 TALDO1 TPM1 LHX4 POLG NR3C2 ENG C8ORF37 ARID1B PEX5 SGCB SCARF2 PEX13 ESCO2 ISG15 AMMECR1 JAK3 FGA XK TNFSF15 CEP104 XPR1 TNFRSF1B DDB2 AVPR2 EVC2 COL5A1 PRKAG2 BSCL2 AHCY LYZ PLCG2 SOX10 MYH7 IL12A LRRC56 FASLG ERCC6 STOX1 HSPG2 BUB1 BBS2 IGF1R FMR1 KRT5 BSCL2 RP9 HSPA9 FGFR2 SCYL1 COG7 MYH7 HYDIN PSMB8 SLC2A10 CPS1 IL12A-AS1 SOX18 WFS1 PPA2 GPC4 SUFU MKS1 COX10 DOLK PEX2 POLA1 ESR1 RPL15 HBA1 WNK1 KMT2A NEUROD2 WDR19 ASCL1 CRELD1 NDE1 DNMT3A NEDD4L UFD1 SCNN1A RNF135 SMAD4 LRBA FGFRL1 FGFR1 HGD CSNK2A1 DHCR24 TPM3 RBCK1 TNNT2 NFKB2 CASR TBX20 SLC25A26 FGB IFNG HMCN1 PALB2 RAG2 FAT4 FCGR2A C2CD3 WNT5A POMP ABL1 ATP6 ZDHHC9 DES RMND1 NSD1 SCYL1 NDUFS2 RTTN ARSB EWSR1 AAAS CAT LORICRIN FGA CTNNB1 COX2 PEX19 PRCD PORCN SEMA3E FGB CACNA1D EPB41 EED NPHP3 FGF8 ASXL2 EVC TNPO3 SLC25A4 VWF SMARCB1 ZNF513 RPL5 AQP5 IDUA GJC2 MMP2 HBA2 MRAS SPECC1L LAMA3 ERCC4 MKS1 STAT4 F2 MAFB KCNH2 STK11 CSPP1 NRAS BTD BTK ND2 RPS6KA3 SF3B1 RAC1 NAA10 CD19 STRADA RPL26 DLD DTNBP1 SUFU NEBL NLRP12 ABCA1 GBA PDE6B RPS24 HMGCL FAT4 GBE1 PCCA SNCA DNAL1 KRT1 TNNT2 OTC BTK CYP11B2 AGGF1 UROS F8 LRIG2 SALL4 CANT1 IL36RN KIT ALPL LMNB1 ERCC5 DNAAF3 BMPR1A CYBB FRA16E GPC6 SMARCE1 ELN RPS28 PDGFB NDUFAF2 LMX1B HLA-DRB1 FKRP PAX3 KAT6B NOTCH1 HLA-DRB1 MYH7 FOXRED1 NECTIN1 EIF4G1 PLN TAPT1 WRAP53 SCN5A KDR DST SLC25A24 RFC2 SMAD3 ERBB3 ERCC3 KIT PUF60 ETV6 STK4 CCNQ F2 ND6 INPP5E CCDC40 ADAMTS10 NEK9 FKTN BEST1 XYLT2 PEX3 SOX18 DSG2 DPM3 TRNL1 GNPTAB CRELD1 GNA11 TRNW DLL4 TBX22 CTNND2 MICOS13 PNPLA2 PTPN14 ZFPM2 LIPA POLR1A PPCS HAVCR2 IL10 TMEM237 SUMF1 POMGNT1 KCNAB2 GUSB CHD7 BRAF AGPAT2 HBB ENPP1 SF3B4 MAB21L1 ARID1B MYH7 NLRP3 RIT1 HPS5 INS LAMB3 CALM3 SHANK3 SLC37A4 CSRP3 CHRND CEP290 AARS2 JAK2 ATP8 ARMC5 SHPK TOPORS ISCU GJB3 IDH2 GNA14 STX16 OFD1 CPT2 FGFR2 PIBF1 ESCO2 TCTN2 LRP5 TKT USP45 SCNN1G NSMCE2 MPL TWNK PRKCH CYP3A5 SFTPB DNAH9 SLC40A1 NCF2 DUSP6 TP53 RAI1 AFF4 PDE3A SURF1 TRIP4 GDF3 BANF1 BBS1 DNAAF1 CYP11B2 NPHP1 RIPPLY2 CD79A SIM1 BRIP1 DCTN1 DSG2 CCDC114 KRIT1 PDGFRA ALG8 NKX2-5 AGT ADCY5 APP HGD TALDO1 RNF6 BRAF DHCR7 BUB1B RSPH1 TNFRSF11B ACTA1 TPM2 ND1 ERCC2 STIM1 HSPG2 OBSL1 ADCY5 STAT1 CCDC114 IL12RB1 CD244 C4A CALR POT1 INPP5E CA4 TRNK CD28 TTR GALNS ABHD5 EYS KCND3 EHMT1 PROS1 MFAP5 CALM2 LIPA CDSN MKS1 PRRX1 FLII TMEM237 PKD1 SLC4A1 SP110 F10 TMEM43 MGAT2 CXCR4 MED25 POLG CD55 CCDC28B SCN1B FOXJ1 TBX1 TLR4 IFT27 PAFAH1B1 NF2 RBM8A FANCB NDUFB10 NDUFAF5 COG4 SDHB ZNF408 ITCH MCTP2 RANGRF ITGB3 PSEN1 TSC2 FLT4 RASA1 COA8 TFRC TCTN3 KDSR ZNF148 KCNE2 KCNQ1 NKX2-5 STAT4 EZH2 ARVCF ND4L ZNF687 ZAP70 TFAP2B RNU4ATAC POLR3A CDKL5 COL4A1 RNASEH2C TBX1 COL5A1 TREX1 MYOC SEC23A SLC7A7 CYBA HFE NLRP1 MS4A1 MYH8 PUF60 COL1A2 BTNL2 BPGM TRNS2 NR3C1 HRAS HDAC4 KLHL7 NMNAT1 TNFRSF4 CFHR3 FGFR2 NLRP3 PRKG1 HBA2 KIT IFT80 CITED2 PHF21A NR3C2 ELOVL4 FKBP14 KLHL41 EXTL3 GP1BB MYRF KRAS SLC52A3 PIK3R1 STX3 DMD JAK2 HCCS SMARCA4 C12ORF57 SLC25A4 PLOD1 SDHD SALL1 GP1BA IMPDH1 IFT43 NDUFB3 PCSK9 FAS KRT14 CDON IL6 GP1BA ASS1 ABCG5 VANGL1 TRNK ERBB3 A2ML1 TCAP GJB3 DNAI1 MYH9 COL1A1 COL5A1 IL17RC TCF4 TRNS2 XYLT2 RRM2B OTUD6B NFIX TRPS1 CFC1 ALX4 TACR3 MPL TNFRSF11A IFT172 EDN1 NKX2-6 LIPT1 ATM CAP2 CEP290 NDUFA10 CCDC39 DNAH11 CHD7 KCNJ11 PROS1 SOX10 SETBP1 DES PEX10 MALT1 PKLR ASXL1 PLP1 SERPINC1 SLC4A1 SPAG1 HADHA DNASE1L3 SUFU FOXP1 PIEZO1 ATP6 PRPF4 GMPPB SCN5A NKX2-5 VWF NFIX KLF1 MED13L EVC LOX ALG9 PTPN11 SOS1 HEPHL1 GINS1 GLI2 SEMA5A FASLG SNRNP200 BSCL2 F2 TNFSF12 KIT ARMC4 NDUFS3 SMN1 AEBP1 KIAA0556 EPHB4 ND3 CHRNA1 EMD ACTA1 COX6B1 TCOF1 SPTB ANTXR1 KCNK3 HSPG2 RPGRIP1L KCNE1 ABCC9 AEBP1 RPL10 EPHB2 TGFBR3 CAV1 NFKB1 DNAH11 KDM6B P2RY11 FBLN5 NDUFS2 TRNS1 SOX4 PTPN11 ARMC4 RAB23 PSAT1 STAT3 FKTN JAG1 MNX1 NRAS MYH7 HIBCH SSR4 ZIC2 KCNJ8 BLM GJA1 FBN1 GNAS SYNE2 ESCO2 TPM2 AGXT GCK IFNG RPS19 MRPS22 B9D2 GATA6 POLH ARL13B TNFRSF1A IDUA GPI NNT GPX4 SOX4 MPL STRA6 RUNX1 ERCC3 PNPLA2 FOXF1 SOX3 GP1BB CTNS PPP1CB KCNE5 CYP17A1 CDK10 BRCA1 CFAP298 RERE DVL3 STXBP1 RFWD3 COL4A2 SMPD1 ICOS F12 DKC1 TXNRD2 SCN2B SMAD4 NRAS GPC3 XPC PRPH2 ARL6 LMNA SULT2B1 CSF2RA PMM2 EXT2 EXT2 FLNA SRY GGCX HYLS1 SCN5A CCR6 FLNC COX7B TPI1 WRN VHL BCOR AP1B1 MAPT EPHB4 MMUT COG4 SPINK5 NDUFS7 NPHP1 VIPAS39 SCN5A APOA1 GLI3 GFI1B GPC3 RARB GDAP1 PIEZO2 MAPK1 TAB2 DSC2 PHKG2 KRAS PPP1R15B FAT4 FIBP DVL1 EOGT TRNT HLCS EDN3 CDON TANGO2 THOC6 RET TAF2 ATM IL6 ARL3 AKT1 MYH9 THPO LONP1 CYP27A1 TERT KCNA1 TPM2 ITGA2 RYR1 FBLN5 ND2 EYA4 MLYCD LPIN2 RB1 IFT172 TBX1 SP7 GNE H19 PDE4D NDUFAF3 ABCG8 RBM10 LMNB1 GAA CHRM3 UBE2T DMD SERPINA6 FLAD1 TMEM67 SCNN1G CD79B PIGO RPL18 WT1 LDB3 MAP3K20 FBN2 IKBKG JUP GREB1L CC2D2A GDNF GATA6 FANCE RIN2 ACAD8 FLNB SCN1B ARF1 KIF11 POU3F4 DHCR24 FAM161A GJA1 CHD7 TERC DCDC2 EDNRB PTCH1 MPIG6B CYP1B1 GNAS MYH7 FOXRED1 MAP2K2 SRD5A3 CARD9 SOX9 SNCA MED13L DNAAF4 RRAS NOD2 KCNE3 TBC1D24 SLC19A2 AKT3 RIN2 MGMT RPL10 RPL5 KIF7 WDR60 PRRX1 TCF3 COA6 KYNU GRIP1 ACTC1 HAMP CDAN1 BRAF ADAR TRPM4 PARN MYLK COL3A1 TXNL4A TPM2 ENPP1 TRMT10C ZNF365 CAV1 SLC25A24 STX11 DHCR7 ADA2 TSPYL1 COL6A1 RLBP1 SH3PXD2B DNAH1 PMS1 FGG SLC25A20 MTFMT COA5 RPS6KA3 COL4A1 SAMHD1 TAB2 GPR101 NDUFS8 COQ2 ND1 LMNA MYH7 NT5E ADAMTSL2 GTF2H5 SON FANCM LDLR RET GGCX VHL ABCA1 ADD1 ARHGAP31 HCN4 PSEN1 SOX18 CTLA4 RPS15A SOX9 ZMYND10 EPCAM KAT6B MPLKIP GLI3 AKT1 ARL6 LZTR1 MYF6 FLRT3 RASGRP1 MTHFR PDHA1 CENPE NDUFB11 TNFRSF11A TTPA IL10RA PCNT HLA-B PEX1 COL2A1 CACNA1C SON UPF3B IRF5 BGN BCHE TFR2 TREX1 SMAD6 BTNL2 CLRN1 FGFR1 SCN5A KMT2D NEXN CYBA KAT6A CPOX ARPC1B PPP2R5D FGB VPS45 PLG TAB2 PGAP2 DNAAF6 PYCR1 LYST TP53 ND4 RPE65 RPSA TANGO2 TBX1 JAK2 MRPS14 IL17RD LYST RNASEH2A SPATA7 LMNA ACTC1 DSE PIK3CA RPL10 AHR C2 SDHAF1 CYP7B1 CACNA1C PALLD GATA6 HPGD GNAS TTC7A FARSB PRCD FGFR2 GATA1 MED12 ARX ALG9 BPTF ABCC9 PEX5 CLCN7 FMR1 TPK1 SEMA3E CCN2 NUP155 G6PD EED MTHFR DMD CCDC103 LIPC TPM1 KLF1 WT1 RNASEH2C DOLK GABRA3 DYNC2H1 GPC4 OFD1 ND5 IGHM HEXB ATP2C1 PDGFB CTSA B2M PHOX2B SDHA ABCC9 ACTB BCR TRAF7 RRM2B NOTCH3 MUC1 SDHD DDX59 MAP3K7 CTBP1 NOTCH1 CRX DPM1 ATP8B1 CRB1 NKX2-1 PEX12 MTTP TRNS1 ESS2 DPF2 CAV1 IDUA RNU4ATAC ELN SACS MST1 TGFBR2 ECE1 HADHA DNAH9 TCTN1 TNFSF12 GATA6 PEX19 KCNQ1 NAGA WT1 APC TRIM28 DES NLRP3 CTSK IDH3B LOXL1 RYR1 LMNA BMPR2 DPM3 RECQL4 MVK KCNQ1 SFTPC FLNA COL11A1 GNAO1 PALB2 EBP PAX8 TK2 TMEM67 TEK NHP2 CFH HBB DCDC2 TDGF1 PARS2 FLNA DCLRE1C CLCF1 COL4A4 NR3C1 CYP11A1 TRNQ COL6A2 CHRNA7 COX8A PQBP1 PTF1A WAS KDM6A TGFBR1 ATP6AP2 IL12A NTRK1 HLA-DRB1 SLC25A20 FZD2 FGD1 ALMS1 GALE NRAS HES7 PCNT MAP3K7 COQ4 ADA2 SMC1A TGFBR2 GMPPA GFI1 HACD1 RNF125 FANCD2 FKBP14 SOX2 SCN3B NEK1 VHL GLA CDC42 TERT FERMT1 ERCC2 SLC25A11 KCNE2 GUCA1B ABL1 STXBP1 ASAH1 ATP6V1B2 PDE8B ND1 FXN CDKN1B NEK9 FRAS1 DNAAF6 IL1RN PDE6C FSCN2 PLOD1 FIBP EXT2 FLT1 FN1 FBN1 DGUOK GJA1 GBA WASHC5 MTFMT GATA6 GLUL GJA1 FLNC KRT2 CDC42 SLC4A1 CCDC8 TRNS1 TRDN KCNMB1 TFAP2B LIPA CFAP298 GATA2 TP63 ACTN4 AHI1 CKAP2L ZBTB16 NOS3 FUCA1 KIAA1109 HS6ST1 BMPR1A DNAAF1 ACTG2 SIX3 CAPN5 PTEN TREX1 SEC23B APOC2 XPA GLB1 RPS27 PCNA HMBS LDLRAP1 PTPN22 RAI1 INPPL1 HYOU1 MGP HPGD C1QA ELN CBS CYP27A1 RAG2 TERC LOX COX1 XPC KCNN4 ENG BUB3 NDUFA11 FANCA DYNC2LI1 GJA5 CCN2 ELANE NEXN GPD1L RAI1 MASP1 CCR1 MAD2L2 PKP1 CCDC103 GJB4 KRAS FOXP3 CD3E CD19 SMARCC2 TRNV KCNE3 PCCA HLA-DRB1 GCLC COX14 CTSB CEP57 TLL1 WNT4 WIPF1 SLC25A13 BCL11B TTN LMNA CDKN2C GPC1 F13B SF3B4 JUP SCN5A GJA8 OPA1 CEP55 NLRP3 KCNQ1OT1 ALPK3 KDM6A NDUFAF4 BBS2 NGLY1 ATXN7 CCNO GATA1 BBS9 NDUFAF1 ALG1 PEX26 TAZ POLR1D ATIC EPB41 ACADVL SLC25A3 SIN3A CPT2 PITX2 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SELENON SH2B3 OSTM1 POMT1 SMOC1 MRAP FIP1L1 TBL2 CPOX PNPLA6 SPTB TWNK PMPCA SFTPC MSX1 ITPR1 TBL1XR1 XPNPEP2 ATPAF2 TWIST1 MDH2 PRPF8 ICOS STRA6 SCN3B YY1 FCGR2A FBXL4 XPA AFF4 CLIC2 RASA2 SLC20A2 SOX2 TRNW NDUFAF2 GMPPB CLCN7 KLHL3 SOS1 XPNPEP3 ARNT2 PRKCSH GNE ARSA PEX7 COX15 USH2A CCBE1 SMCHD1 SNX14 ELANE ADA2 COL18A1 NME8 RAD21 NDUFAF3 DPF2 PIGO ERCC3 ALDH18A1 FANCF CARD11 WDR19 COL2A1 PLVAP FAS CTSB PDGFB CLCN7 ADAMTS2 DNAL1 IGFBP7 PCCB HLA-DPB1 HCRT DLST CSTA MC4R ADA TMEM138 SLC35A2 AMER1 CFI HOXA13 RSPO2 NDUFAF5 COQ7 CYP26C1 MECP2 KCNJ11 ERCC2 TP63 LMX1B ITGA3 ENPP1 RPGRIP1L TRNK RAI1 TRNL1 SPEF2 SYNE1 NDUFS4 RASA1 SLC26A2 COL6A3 F9 PIK3R1 CHST14 GNAQ ERGIC1 PRDM5 SDHB PRKAR1A SLC7A7 KCNQ1 CDH23 ZNF513 IQSEC2 SAA1 ATP6V1A LBR CEP120 MYH6 ANK1 RNF113A TNXB ANK2 IRX5 GDF2 ALMS1 TRIP11 GBA HBB CASR WT1 SALL4 PUF60 PNP HOXA1 TRIM28 PSMB8 MCCC1 LARS2 NOTCH3 PIGL CYP11B2 DNAAF3 KIT AGA IFT172 PDE6D TRAC ASAH1 NPM1 IKZF1 GATA6 TTC8 TPM3 GLB1 WNT3 CLRN1 EOGT ZEB2 NAGLU MLXIPL SCN10A EDA SCNN1A LMNA CDH23 IKBKG PACS1 TXNL4A ALX1 TGFBR1 PPARG CYP7A1 EBP ELP1 NDP BAZ1B MYH7 IL12B MAX POU1F1 TMEM43 SCN5A CHRNG MEN1 SLC22A5 ATP5F1E CPLX1 CUL7 WDPCP ACTG1 YY1AP1 ADAMTSL4 AIP BOLA3 CYBB PTEN ROR2 PQBP1 SDHB OTX2 ABCB6 GLB1 RET ANK2 POLR1A IGHM IFT140 POGZ ANK1 NR0B1 MAP3K7 CFH LBR PPARG MYOT LIPN NIPBL TET2 NDUFA1 DOCK8 LRRC6 GJA5 GTF2IRD1 ATP6V1E1 LMNA GP1BA PRKAR1A CCDC65 NDUFS7 GATA6 ATP7A RP1 MYORG SOX11 CD40LG GATA1 IFNGR1 GMPPB TWNK DNM2 CFI IVD SIX6 CHD7 NEU1 RBPJ CLEC7A PSAP HSD3B7 EXT1 PKP2 IDH2 ANTXR2 TP63 STN1 NF1 PLEC VCL NDUFV2 CALM1 CR2 PIEZO2 LACC1 ABCB11 DSE KRT8 CASK ZMPSTE24 GBA CCND2 PPP2CA LRP5 TMEM43 TOP3A SCN1B RPL35A DPH1 TCIRG1 GLIS3 CFI MYLK2 CHST14 ADA GATA4 DNAI2 DNAH5 CTSA TRNK MRPL3 TBX1 KCNJ2 DNAH1 RHO COL1A2 AIP CLCNKB COX2 ITPA KRT18 FKTN MID1 PRPH2 UROS PAX3 PIK3CD CORIN USH2A SBDS GNPTG CD81 MYH11 LRP5 LRRK2 NCF2 FHL1 VEGFC H19 KCNH2 TNFRSF1B TGDS RMRP SH2B1 ANAPC1 NKX2-1 CKAP2L VHL SNIP1 SPINK5 CACNA1S SMPD1 HRAS GNAI2 RPL35 DNM2 CBS RPGRIP1 UBE2A NDUFB8 COX7B ACADS CEP41 LDB3 INPP5E PIGN DGCR2 HADHA HMGA2 TTR ALOX5AP RPL26 POLD1 SMC3 KANSL1 F5 IL7 SOX5 SLURP1 TSC1 RAF1 HNRNPA1 GLI3 ACTC1 AKT2 TNFSF4 FLNA PIGN ZFPM2 TET2 UMPS HLA-DRB1 TRRAP SLCO2A1 BMP2 SELENON CAV1 IFT122 HAVCR2 PEPD ACAT1 LMNA ACVRL1 LPL DIS3L2 PIGA GNPTAB PHKG2 COL5A2 KRIT1 CCR6 BMP2 TBCK SNX10 COG7 APC GATAD1 MITF FGB FHL2 NDUFV2 CALM2 TERT ERCC4 TSPYL1 LRP2 DRC1 SDHD SDCCAG8 GBA NPC1 FZD4 PEX5 ZFPM2 LIPC HES7 LAMA4 GLI1 HPS1 HBA2 ALDOA TET2 DVL3 RAB23 TFAP2A CALR FGFR3 NDUFAF6 FBLN5 EMD LPL KCNJ5 TREX1 SEMA4A PKP2 RPL15 FMO3 SMCHD1 MEGF8 HGSNAT MMUT PEX26 NONO DGCR6 SMARCA2 SLC19A3 GPC4 RPGRIP1L MPL FOXRED1 CACNB2 WDPCP CCDC40 SLFN14 PEX2 NFKBIL1 XYLT1 NSDHL G6PC F11 MCM4 ANTXR1 HLA-DRB1 AMMECR1 PPARG DLL1 SOX9 SBDS OTC COX4I2 SH3PXD2B STING1 DIS3L2 RAD51C NDUFAF1 ABCC6 LAMP2 CYBC1 MAX WAS FOXE3 SP110 DVL1 RECQL4 IL2RB PIGL RPL27 LCAT NKX2-6 CCND1 C3 XYLT1 DGCR8 KYNU PKD1L1 FRAS1 TRNF CD247 COL1A1 NDUFA6 B3GAT3 DNAJC19 APOB DHODH AK2 RSPH4A COLQ BEST1 BNC2 RPL11 CRYAB CNTNAP2 SKI CYTB CYP17A1 COL1A1 MESP2 PKHD1 TNNI3 PPP2R1A CFHR1 CTCF GLI3 CD96 KDM6A FRG1 RPS29 PRKAG2 MYSM1 DNAI2 GJA5 ND4 KIF1B ZMPSTE24 COL11A2 VHL AQP2 LBR DDC SRP54 SMAD3 SLC12A1 WNT4 SLC39A4 KITLG NF1 WWOX ABCC6 COL3A1 GATA5 BIN1 PDX1 SDHA PEX14 SNTA1 PIGW MYCN CASR BCL2 CEP19 SF3B1 GMPPB INVS NDUFS6 POU2AF1 F7 CLIP2 ERCC8 MED12 KRT9 HSD11B2 JUP GYS1 TNNI3 NPHP3 CAVIN1 MVK COL4A1 CP TMEM127 GYPC MEOX1 ATP5F1A CD28 ACTC1 NDUFB11 HTRA1 CEP290 TMEM127 SHH STAR LMNA FOXH1 RHAG TMEM260 CRYAB MYOZ2 TBC1D24 UBAC2 FBN1 GATA4 NOTCH1 MED13L NLRP3 SNTA1 PNP MBTPS2 TSC2 IDUA NDUFS8 GNA11 UBE3B HSD3B7 RAG2 RMRP KCNQ1 PEX7 HLA-B NAGA KRT10 DNAJC13 PRKAR1A ATRX NEU1 FLNA BCOR ROR2 TRPM4 ACD SEC61A1 STEAP3 BCOR TARS1 ATN1 RET DLD OFD1 NOTCH2 APP P2RY12 KCNJ18 EFEMP2 B9D1 KRAS RNASEH1 POLG PLEC PDGFRB MYBPC3 IGH USP9X PIGN SDHA XIAP TBX5 TCIRG1 CPLANE1 ACTA1 BRCA2 KCNJ1 DLL4 MYPN TRPM4 DSP POMT1 CALM1 MGME1 SLC39A4 EPB42 C1S EMG1 RNU4ATAC LRAT SLC37A4 FTO ARID1B MYPN KRT14 TECRL NFU1 PDE6A DDX11 RPS19 ARL2BP HPS4 GDF6 PRKCD AIP NSMCE3 UNG SGCG SGCD LMNA CASQ2 TTC8 SLC25A11 NUBPL TCTN3 RBM20 FMR1 CCDC47 KAT6A PTCH1 HESX1 RAG2 RPGRIP1 HIBCH NOS3 DES FAN1 H19 NFIA FERMT1 RYR2 DPH1 CYP7B1 ERF TULP1 CUL3 COL4A3 ADAM17 VPS13B ND1 BLOC1S3 COL1A1 ATP6V0A2 CTC1 GATA4 TCAP LIPT1 VAC14 SUZ12 CFTR MANBA FGFR2 KCNJ2 GNAQ IGLL1 KCNE1 TMEM94 FREM2 PRDM16 FGG BTD PLAGL1 AGXT PDCD10 HK1 GP1BA FOXC1 PTCH1 TSC1 AGPAT2 SMC1A MEFV PDGFRA PDE11A SPEG AGTR1 GNB3 BAP1 ATP7A IGBP1 POLR3A DNAAF2 TRAIP GGCX COQ2 YWHAE ABCB4 SCNN1A CPT2 PEX6 RORC CCDC141 YARS2 DCLRE1C HYMAI MAK HABP2 KCNE5 GATA5 FEZF1 XRCC4 SKI IDUA APP WT1 CLCNKB FOXF1 FLT4 NKX2-5 PRKACA SLC25A4 ENG SDHD UCP2 MFAP5 TNNI3K PKD2 THOC6 TRNL1 GPIHBP1 RYR2 NELFA LEMD3 MYH3 SMAD4 AMER1 HDAC8 GNAS ERCC6 ATP6V0A2 BRAF WNT10A KISS1R SETBP1 RANBP2 KRAS ERCC5 POMT2 TGFBR2 RFT1 LZTR1 DVL3 EVC2 STN1 PTEN ND2 SEMA4A EPB42 AKAP10 APP RNASEH2A B3GLCT HCN4 C4A KDM1A LTBP2 DNAJC21 ITGA2B GDF1 NDUFB11 ABCC9 GPC6 FOS RAG1 TTN BRCA2 IDH3B DDX58 HELLPAR CACNA1D HCN4 FBN1 SFTPA2 CASQ2 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 PROP1 CD46 RSPRY1 DGUOK MBTPS2 PHGDH ITGA2B GPD1L ND3 KRAS CTCF NODAL DSP STAG2 KCNQ2 FUT8 RAD21 ND5 FAS NCF1 PROC CITED2 RAD51 CALM1 SCN1B GIGYF2 CACNA1H LRP6 INHBA CD2AP PIGL LTBP3 DYRK1B PIGQ SGCB ZIC3 PROKR2 PCARE HYMAI PRPF3 FBP1 SMOC1 SYNE2 LBR LRP5 CCND1 ITGB3 ABCG8 CST3 TRMU PLD1 LAMB2 WDR34 SLC52A2 ADNP CCDC151 LEP KRT5 IRF2BP2 TCIRG1 LRRC56 CTNNB1 C2CD3 SPATA5 CALM2 FKRP NKX2-5 COG1 CYP11B1 NDUFAF4 TRNL1 FGFR2 FGG MOG ASCC1 LEMD3 ACP5 MYMK HADHB ALDH3A2 LAMA2 WIPI2 SCO2 MGP POMK RNF113A MYH6 ALX3 BLM CDKN2A HBB TNFRSF1A FLI1 KIF15 RPGR RYR1 SH2B3 ABCD3 FGFR3 BRAF ABCC8 FXN SUMF1 PITX2 RGR CSF2RB KRT1 PEX14 RAG1 WARS2 ZMPSTE24 ANKS6 CDKN1B FGFR2 TRIM37 PSAP FLNC ABCC8 STAC3 EYS PLN CYP11B1 AICDA ARX PLIN1 SPECC1L TERF2IP DYNC2LI1 ACTA2 PDGFB TRPM4 SLC25A3 CACNA1D NDUFB9 TRIP11 ITGA8 PAX6 SEC23A RUNX1 DOLK HBG2 MMP14 PADI4 RP2 PIK3R2 HNF1A NKX2-5 ATP6AP1 TMEM216 HNF4A CEP41 STRADA CTLA4 ZIC3 KRAS IDS NOTCH3 FOXC1 PET100 EP300 NKX2-5 NLRC4 COX15 SCN10A SCNN1B NODAL GATA4 MBTPS2 DNAJC19 PRF1 NAGA PIGM PMM2 LMNA HLA-DRB1 PAH FOXC2 IQCB1 KRT83 KLRC4 NOS3 SAMD9L MYBPC3 CITED2 KIF1B SLC30A10 TAF2 PLAGL1 PIGY FGFR2 LZTFL1 PDE6A ACE PDE6G ACTN2 MCFD2 PERP IMPG2 GATA3 RBP3 MPLKIP ALDH18A1 HBA1 ROBO4 MTO1 IL7R NDUFS3 ACAD9 HRAS HPS6 NLRP3 GDF6 RHBDF2 ACTB RYR1 IFIH1 JAK2 WT1 POMT2 LIG4 TTN SELENON DBH KCNH1 ITGB3 SPRY2 STAG1 FBN1 EFTUD2 WT1 BCR TNNT2 ALDH18A1 CACNA1S IGF2 NIPBL NR2E3 BLNK ANKRD1 SLC26A3 PCGF2 TMEM126B LIAS EYA4 KLHL7 DNAAF2 CTLA4 CNGB1 HIC1 DYSF CD81 DSP NOTCH1 ATAD3A DBH PRG4 EHMT1 NCF4 SMAD4 AGBL5 TTC37 TMC8 TNFRSF13B PEX12 POR INVS RDH5 MINPP1 PTPN22 ATP7A TRPC6 F13A1 ACTA2 OFD1 TET2 CFAP300 CFHR3 TUBB IGF2 ANO10 CC2D2A TNFRSF13C NSMF SKIV2L SFTPA1 AIPL1 CLN3 SLC12A3 RTEL1 TCTN2 TPM3 GBE1 DDB2 TRNV PIK3CA NPC2 KCNJ8 SMAD4 AP3D1 SGCA IL10 PEX11B RAG1 RBM20 F5 CDHR1 CASP10 CHST3 HAMP SH2D1A GBA ATP6V0A2 ROR2 COX3 C15ORF41 PPA2 SCN4B CYP11B1 CCNQ TGM5 NDUFA4 FH COG6 COG4 LZTFL1 LMNA CBL CFHR1 PLAU COL4A3 DMPK AIRE RNF213 ZFPM2 FANCG WDR35 SAMHD1 NKX2-5 LIG4 WDPCP TSHR COX1 NR2F2 SLC4A1 SELENON PRKACA CD19 FLCN SNX10 MIPEP CYB561 SNRNP200 REN FAH FHL1 ITGA2B CD40 KRT5 FANCB PRNP MAP2K1 PSTPIP1 NPPA KAT6B TMEM216 XIAP ECHS1 HLA-DQB1 SPTB NAGS DCHS1 TTC7A CAV3 APC FGFR2 KAT6B PNKP MRAS JPH2 STXBP2 SALL1 PTPRC VPS33A CD96 FECH PEX12 SNAI2 AP3B1 MED12 TBXAS1 GNPTAB