chr11:17386719:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:17,386,719-17,410,878 |
| hg38 | chr11:17,365,172-17,389,331 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | celiac disease | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Congenital macroglossia | NA | BeFree | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| 0.008 | Coronary heart disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| 0.136 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,CTD_human,GAD | Detail | |
| 0.003 | diabetic ketoacidosis | NA | BeFree,LHGDN | Detail | |
| 0.003 | diarrhea | NA | LHGDN | Detail | |
| <0.001 | Dyspnea, Paroxysmal | NA | BeFree | Detail | |
| 0.010 | epilepsy | NA | BeFree,LHGDN | Detail | |
| <0.001 | Epilepsy, Generalized | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| <0.001 | Fetal Macrosomia | Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with tran... | BeFree | 25231897 | Detail |
| <0.001 | Heart Diseases | NA | BeFree | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.003 | HIV Infections | NA | BeFree,GAD | Detail | |
| <0.001 | Hypercapnia | NA | BeFree | Detail | |
| 0.014 | hyperglycemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.008 | hyperinsulinism | NA | BeFree,GAD,LHGDN | Detail | |
| 0.083 | Hypertensive disease | NA | BeFree,GAD,RGD | Detail | |
| 0.009 | hypoglycemia | Congenital hyperinsulinemic hypoglycemia (HI) is a heterogeneous genetic disorde... | BeFree,GAD,LHGDN | 25117148 | Detail |
| 0.009 | hypoglycemia | Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with tran... | BeFree,GAD,LHGDN | 25231897 | Detail |
| <0.001 | Neonatal disorder | NA | BeFree | Detail | |
| 0.122 | Insulin resistance | NA | CTD_human,GAD | Detail | |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | Kidney Failure, Acute | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | long QT syndrome | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| <0.001 | Macroglossia | NA | BeFree | Detail | |
| 0.003 | myocardial infarction | NA | LHGDN | Detail | |
| 0.010 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.005 | polycystic ovary syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | We have genotyped three single nucleotide polymorphisms associated with type 2 d... | BeFree | 14988278 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | By using a Cox proportional hazard model, common variants in the PPARG (P12A), C... | BeFree | 17570749 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | In contrast, the well-documented associations of peroxisome proliferator-activat... | BeFree | 15561965 | Detail |
| 0.003 | West syndrome | NA | BeFree,LHGDN | Detail | |
| 0.002 | Starvation | NA | GAD | Detail | |
| 0.009 | gestational diabetes | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Sudden cardiac death | NA | LHGDN | Detail | |
| 0.080 | sciatic neuropathy | NA | RGD | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| 0.003 | Muscle Weakness | NA | LHGDN | Detail | |
| <0.001 | acute myocardial infarction | NA | BeFree | Detail | |
| 0.149 | Neonatal diabetes mellitus | Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with tran... | BeFree,CLINVAR | 25231897 | Detail |
| 0.149 | Neonatal diabetes mellitus | In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n... | BeFree,CLINVAR | 25755231 | Detail |
| 0.002 | Malnutrition | NA | GAD | Detail | |
| <0.001 | Neurologic Symptoms | NA | BeFree | Detail | |
| 0.080 | Parkinsonian Disorders | NA | RGD | Detail | |
| 0.002 | Impaired glucose tolerance | NA | BeFree | Detail | |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic effica... | BeFree | 20054294 | Detail |
| <0.001 | transient neonatal diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Maturity onset diabetes mellitus in young | NA | BeFree | Detail | |
| 0.002 | Developmental delay (disorder) | NA | BeFree | Detail | |
| <0.001 | Wolcott-Rallison syndrome | A 3 year old patient with NDM diagnosed at 3 months of age, who previously teste... | BeFree | 25306193 | Detail |
| 0.002 | Metabolic syndrome X | NA | GAD | Detail | |
| 0.019 | Diabetes | Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... | BeFree | 17259403 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Large-scale association studies of variants in genes encoding the pancreatic bet... | BeFree | 12540637 | Detail |
| <0.001 | Heart failure | A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... | BeFree | 20033705 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 varian... | BeFree | 15842514 | Detail |
| <0.001 | congestive heart failure | KATP channel Kir6.2 E23K variant overrepresented in human heart failure is assoc... | BeFree | 19685080 | Detail |
| 0.060 | diabetes mellitus | Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... | BeFree | 17259403 | Detail |
| 0.060 | diabetes mellitus | It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subje... | BeFree | 15930170 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The relevance to type 2 diabetes of the common polymorphism Glu23Lys in the pota... | BeFree | 12196481 | Detail |
| 0.060 | diabetes mellitus | Association between E23K variant in KCNJ11 gene and new-onset diabetes after liv... | BeFree | 24996284 | Detail |
| 0.014 | hyperglycemia | The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.... | BeFree | 12196481 | Detail |
| 0.019 | Diabetes | The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... | BeFree | 18758683 | Detail |
| 0.019 | Diabetes | These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... | BeFree | 17977958 | Detail |
| 0.081 | prediabetes syndrome | The KCNJ11 E23K variant was associated with the progression to prediabetes after... | BeFree | 22163043 | Detail |
| 0.010 | obesity | Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... | BeFree | 15565284 | Detail |
| 0.060 | diabetes mellitus | The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... | BeFree | 12540638 | Detail |
| 0.019 | Diabetes | The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) ch... | BeFree | 12540638 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | A case-control design comprising 884 type 2 diabetic patients and 513 control su... | BeFree | 19368707 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cr... | BeFree | 22163043 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin resp... | BeFree | 12540638 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-tripho... | BeFree | 16595597 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | KCNJ11 E23K polymorphism was associated with type 2 diabetes in genetic associat... | BeFree | 22385882 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... | BeFree | 18758683 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes... | BeFree | 24332549 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Given the phenotypic overlap between PCOS and T2DM, our objective was to investi... | BeFree | 18958766 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not ... | BeFree | 15930170 | Detail |
| 0.060 | diabetes mellitus | Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... | BeFree | 15565284 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E2... | BeFree | 17922473 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 d... | BeFree | 24460047 | Detail |
| <0.001 | Coronary Arteriosclerosis | The E23K polymorphism in Kir6.2 gene and coronary heart disease. | BeFree | 16455067 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a ge... | BeFree | 17965318 | Detail |
| <0.001 | congestive heart failure | The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the r... | BeFree | 24222218 | Detail |
| <0.001 | congestive heart failure | A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... | BeFree | 20033705 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglyc... | BeFree | 19214942 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Relationship between E23K (an established type II diabetes-susceptibility varian... | BeFree | 17342155 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes... | BeFree | 15565284 | Detail |
| 0.002 | Impaired glucose tolerance | The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not ... | BeFree | 15930170 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The findings of the present study suggest that the KCNJ11 E23K variant is associ... | BeFree | 25115353 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The KCNJ11 E23K gene polymorphism and type 2 diabetes mellitus in the Chinese Ha... | BeFree | 23054005 | Detail |
| 0.060 | diabetes mellitus | KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patient... | BeFree | 17976307 | Detail |
| 0.009 | hypoglycemia | The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglyc... | BeFree | 19214942 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chin... | BeFree | 19498446 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes a... | BeFree | 20033705 | Detail |
| 0.019 | Diabetes | Association between E23K variant in KCNJ11 gene and new-onset diabetes after liv... | BeFree | 24996284 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K d... | BeFree | 22704848 | Detail |
| 0.136 | Diabetes Mellitus, Insulin-Dependent | E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes. | BeFree | 22573428 | Detail |
| 0.060 | diabetes mellitus | Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabe... | BeFree | 25955821 | Detail |
| 0.008 | Coronary heart disease | The E23K polymorphism in Kir6.2 gene and coronary heart disease. | BeFree | 16455067 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians... | BeFree | 22512215 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes... | BeFree | 25165692 | Detail |
| 0.060 | diabetes mellitus | The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D d... | BeFree | 18758683 | Detail |
| 0.060 | diabetes mellitus | Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic... | BeFree | 17965318 | Detail |
| 0.060 | diabetes mellitus | These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may ... | BeFree | 17977958 | Detail |
| 0.009 | hypoglycemia | Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-t... | BeFree | 22591706 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The E23K and A190A variations of the KCNJ11 gene are associated with early-onset... | BeFree | 25725792 | Detail |
| 0.009 | gestational diabetes | Association of the E23K polymorphism in the KCNJ11 gene with gestational diabete... | BeFree | 16320083 | Detail |
| 0.019 | Diabetes | It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subje... | BeFree | 15930170 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S i... | BeFree | 17259403 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of this study was to investigate the association of KCNJ11 E23K and ABCC... | BeFree | 18664331 | Detail |
| <0.001 | Heart failure | KATP channel Kir6.2 E23K variant overrepresented in human heart failure is assoc... | BeFree | 19685080 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Although rare monogenic activating mutations in these genes cause overt neonatal... | BeFree | 22187380 | Detail |
| 0.009 | hypoglycemia | The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in pati... | BeFree | 16142506 | Detail |
| 0.019 | Diabetes | Of particular interest is the Kir6.2 E23K polymorphism, which is linked to incre... | BeFree | 15565284 | Detail |
| 0.136 | Diabetes Mellitus, Insulin-Dependent | The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in pati... | BeFree | 16142506 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The polymorphism E23K on KCNJ11 that is associated with NIDDM was differentially... | BeFree | 17727257 | Detail |
| 0.149 | Neonatal diabetes mellitus | Although rare monogenic activating mutations in these genes cause overt neonatal... | BeFree | 22187380 | Detail |
| 0.019 | Diabetes | Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic... | BeFree | 17965318 | Detail |
| 0.002 | Impaired glucose tolerance | We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin s... | BeFree | 17259403 | Detail |
| 0.466 | Diabetes Mellitus, Non-Insulin-Dependent | The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, foun... | BeFree | 22209866 | Detail |
| <0.001 | Ovarian Diseases | In conclusion, these data (involving >4600 subjects) provide no evidence that... | BeFree | 17342155 | Detail |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Diabetes mellitus, transient neonatal, 1 | NA | BeFree | Detail | |
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes me... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 24468099 | Detail |
| 0.569 | DIABETES MELLITUS, PERMANENT NEONATAL | Sulfonylureas (SUs) are effective at controlling glycemia in permanent neonatal ... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25231897 | Detail |
| 0.002 | coronary artery disease | NA | GAD | Detail | |
| <0.001 | Paroxysmal nocturnal dyspnea | NA | BeFree | Detail | |
| 0.243 | Hyperinsulinemic hypoglycemia, familial, 2 | NA | BeFree,ORPHANET,UNIPROT | Detail | |
| 0.132 | Congenital Hyperinsulinism | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.009 | gestational diabetes | The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A,... | BeFree | 23690305 | Detail |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | Anxiety Disorders | NA | BeFree | Detail | |
| 0.002 | atherosclerosis | NA | GAD | Detail | |
| 0.002 | calcinosis | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Congenital hyperinsulinemic hypoglycemia (HI) is a heterogeneous genetic disorder of insulin secreti... | DisGeNET | Detail |
| Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large t... | DisGeNET | Detail |
| By using a Cox proportional hazard model, common variants in the PPARG (P12A), CAPN10 (SNP43 and 44)... | DisGeNET | Detail |
| In contrast, the well-documented associations of peroxisome proliferator-activated receptor gamma P1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Fetal macrosomia and neonatal hyperinsulinemic hypoglycemia associated with transplacental transfer ... | DisGeNET | Detail |
| In permanent neonatal diabetes (PNDM) patients, homozygous GCK (n=6), EIF2AK3 (n=3), PTF1A (n=3), an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A 3 year old patient with NDM diagnosed at 3 months of age, who previously tested negative for INS, ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... | DisGeNET | Detail |
| Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel ... | DisGeNET | Detail |
| A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... | DisGeNET | Detail |
| The common KCNJ11 E23K gene variant, but not the ABCC8 exon 16 or exon 18 variant, was consistently ... | DisGeNET | Detail |
| KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired ... | DisGeNET | Detail |
| Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... | DisGeNET | Detail |
| It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subjects with an immediat... | DisGeNET | Detail |
| The relevance to type 2 diabetes of the common polymorphism Glu23Lys in the potassium inward rectifi... | DisGeNET | Detail |
| Association between E23K variant in KCNJ11 gene and new-onset diabetes after liver transplantation. | DisGeNET | Detail |
| The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associate... | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... | DisGeNET | Detail |
| The KCNJ11 E23K variant was associated with the progression to prediabetes after a median interval o... | DisGeNET | Detail |
| Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... | DisGeNET | Detail |
| The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... | DisGeNET | Detail |
| The E23K polymorphism of the pancreatic beta-cell ATP-sensitive K(+) (K(ATP)) channel subunit Kir6.2... | DisGeNET | Detail |
| A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the... | DisGeNET | Detail |
| The KCNJ11 E23K variant is associated with type 2 diabetes mellitus (T2DM) in cross-sectional studie... | DisGeNET | Detail |
| The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased r... | DisGeNET | Detail |
| The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive pot... | DisGeNET | Detail |
| KCNJ11 E23K polymorphism was associated with type 2 diabetes in genetic association studies. | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian ... | DisGeNET | Detail |
| Given the phenotypic overlap between PCOS and T2DM, our objective was to investigate whether the TCF... | DisGeNET | Detail |
| The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glu... | DisGeNET | Detail |
| Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... | DisGeNET | Detail |
| Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with... | DisGeNET | Detail |
| Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 diabetes in an Irania... | DisGeNET | Detail |
| The E23K polymorphism in Kir6.2 gene and coronary heart disease. | DisGeNET | Detail |
| Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese popul... | DisGeNET | Detail |
| The Kir6.2 E23K polymorphism in DCM patients of Han ethnicity may increase the risk of negative outc... | DisGeNET | Detail |
| A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... | DisGeNET | Detail |
| The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients wit... | DisGeNET | Detail |
| Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), po... | DisGeNET | Detail |
| Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes. | DisGeNET | Detail |
| The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glu... | DisGeNET | Detail |
| The findings of the present study suggest that the KCNJ11 E23K variant is associated with a greater ... | DisGeNET | Detail |
| The KCNJ11 E23K gene polymorphism and type 2 diabetes mellitus in the Chinese Han population: a meta... | DisGeNET | Detail |
| KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients. | DisGeNET | Detail |
| The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients wit... | DisGeNET | Detail |
| The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian p... | DisGeNET | Detail |
| A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor ... | DisGeNET | Detail |
| Association between E23K variant in KCNJ11 gene and new-onset diabetes after liver transplantation. | DisGeNET | Detail |
| ABCC8 exons 16 and 31 variants increase susceptibility to T2DM and KCNJ11 E23K decreases insulin sec... | DisGeNET | Detail |
| E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes. | DisGeNET | Detail |
| Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type ... | DisGeNET | Detail |
| The E23K polymorphism in Kir6.2 gene and coronary heart disease. | DisGeNET | Detail |
| Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians. | DisGeNET | Detail |
| Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian populat... | DisGeNET | Detail |
| The KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to T2D diabetes, glucose int... | DisGeNET | Detail |
| Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic risk factor for dia... | DisGeNET | Detail |
| These polymorphisms together with KCNJ11 (Kir6.2)-E23K and TCF7L2-rs7903146 may predict diabetes inc... | DisGeNET | Detail |
| Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-treated type 2 diabet... | DisGeNET | Detail |
| The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and... | DisGeNET | Detail |
| Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus. | DisGeNET | Detail |
| It is concluded that the presence of the Kir6.2 E23K genotype in Caribbean subjects with an immediat... | DisGeNET | Detail |
| Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression... | DisGeNET | Detail |
| The aim of this study was to investigate the association of KCNJ11 E23K and ABCC8 exon16-3T/C with t... | DisGeNET | Detail |
| KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired ... | DisGeNET | Detail |
| Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... | DisGeNET | Detail |
| The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 dia... | DisGeNET | Detail |
| Of particular interest is the Kir6.2 E23K polymorphism, which is linked to increased susceptibility ... | DisGeNET | Detail |
| The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 dia... | DisGeNET | Detail |
| The polymorphism E23K on KCNJ11 that is associated with NIDDM was differentially distributed in the ... | DisGeNET | Detail |
| Although rare monogenic activating mutations in these genes cause overt neonatal diabetes, the commo... | DisGeNET | Detail |
| Our findings suggest that the Kir6.2 E23K polymorphism is an independent genetic risk factor for dia... | DisGeNET | Detail |
| We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individu... | DisGeNET | Detail |
| The common ATP-sensitive potassium (KATP) channel variants E23K and S1369A, found in the KCNJ11 and ... | DisGeNET | Detail |
| In conclusion, these data (involving >4600 subjects) provide no evidence that common variants of ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus. | DisGeNET | Detail |
| Sulfonylureas (SUs) are effective at controlling glycemia in permanent neonatal diabetes mellitus (P... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K,... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386597997 dbSNP
- Genome
- hg19
- Position
- chr11:17,386,719-17,410,878
- Variant Type
- snv
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