chr7:44182812:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:44,182,812-44,229,038 |
| hg38 | chr7:44,143,213-44,189,439 |
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 |
|---|---|---|---|---|---|
| 0.003 | Coronary Arteriosclerosis | GCK gene-body hypomethylation is associated with the risk of coronary heart dise... | BeFree,GAD | 24696842 | Detail |
| <0.001 | Coronary heart disease | GCK gene-body hypomethylation is associated with the risk of coronary heart dise... | BeFree | 24696842 | Detail |
| 0.026 | Diabetes | The 0.1% of the population with glucokinase monogenic diabetes can be recognized... | BeFree | 24550216 | Detail |
| 0.026 | Diabetes | Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-on... | BeFree | 25015100 | Detail |
| 0.026 | Diabetes | Glucokinase MODY and implications for treatment goals of common forms of diabete... | BeFree | 25344793 | Detail |
| 0.042 | diabetes mellitus | The 0.1% of the population with glucokinase monogenic diabetes can be recognized... | BeFree,GAD,LHGDN | 24550216 | Detail |
| 0.042 | diabetes mellitus | In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaem... | BeFree,GAD,LHGDN | 24890200 | Detail |
| 0.042 | diabetes mellitus | Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-on... | BeFree,GAD,LHGDN | 25015100 | Detail |
| 0.042 | diabetes mellitus | Glucokinase MODY and implications for treatment goals of common forms of diabete... | BeFree,GAD,LHGDN | 25344793 | Detail |
| 0.200 | Diabetes Mellitus, Experimental | NA | CTD_human,RGD | Detail | |
| 0.009 | Diabetes Mellitus, Insulin-Dependent | Small, potentially atherogenic HDL content differed significantly with the GCK-M... | BeFree,GAD | 24549415 | Detail |
| 0.009 | Diabetes Mellitus, Insulin-Dependent | The difference between TT homozygotes and other genotypes was similar in magnitu... | BeFree,GAD | 24918535 | Detail |
| 0.009 | Diabetes Mellitus, Insulin-Dependent | Of 58 patients with presumed T1D who underwent genetic testing, four were found ... | BeFree,GAD | 25082184 | Detail |
| 0.009 | Diabetes Mellitus, Insulin-Dependent | We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune... | BeFree,GAD | 25467089 | Detail |
| <0.001 | Diabetic Nephropathy | Out of these 78 people with GCK-MODY and 40 additional family members with hyper... | BeFree | 24804978 | Detail |
| <0.001 | Experimental Autoimmune Encephalomyelitis | NA | BeFree | Detail | |
| 0.081 | Fatty Liver | NA | BeFree,RGD | Detail | |
| <0.001 | Glycogen Storage Disease Type VII | NA | BeFree | Detail | |
| 0.156 | hyperglycemia | A novel heterozygous mutation in the glucokinase gene conferring exercise-induce... | BeFree,CTD_human,GAD,LHGDN | 24503189 | Detail |
| 0.156 | hyperglycemia | Mutations in exons 10 and 11 of human glucokinase result in conformational varia... | BeFree,CTD_human,GAD,LHGDN | 24720358 | Detail |
| 0.156 | hyperglycemia | Out of these 78 people with GCK-MODY and 40 additional family members with hyper... | BeFree,CTD_human,GAD,LHGDN | 24804978 | Detail |
| 0.156 | hyperglycemia | Glucokinase (GCK) mutations cause a monogenic form of hyperglycaemia (GCK-MODY) ... | BeFree,CTD_human,GAD,LHGDN | 25344793 | Detail |
| 0.156 | hyperglycemia | GCK-MODY patients are typically characterized by a moderate fasting hyperglycemi... | BeFree,CTD_human,GAD,LHGDN | 25501962 | Detail |
| 0.156 | hyperglycemia | The principal objective of the current study is to determine the outcomes and cl... | BeFree,CTD_human,GAD,LHGDN | 25935773 | Detail |
| 0.156 | hyperglycemia | Recognition and Management of Individuals With Hyperglycemia Because of a Hetero... | BeFree,CTD_human,GAD,LHGDN | 26106223 | Detail |
| 0.008 | hyperinsulinism | Familial adult onset hyperinsulinism due to an activating glucokinase mutation: ... | BeFree,GAD,LHGDN | 24890200 | Detail |
| 0.008 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| 0.010 | hypoglycemia | Biochemical and structural analysis of this loop variant and GCK variants associ... | BeFree,GAD,LHGDN | 26283387 | Detail |
| 0.085 | Insulin resistance | NA | GAD,RGD | Detail | |
| <0.001 | insulinoma | NA | BeFree | Detail | |
| <0.001 | Ketosis | NA | BeFree | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | Menkes Kinky Hair Syndrome | NA | BeFree | Detail | |
| 0.120 | Liver Cirrhosis, Experimental | NA | CTD_human | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| 0.001 | Nesidioblastosis | NA | BeFree | Detail | |
| 0.084 | obesity | NA | BeFree,GAD,RGD | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| <0.001 | pituitary adenoma | NA | BeFree | Detail | |
| 0.005 | Pregnancy Complications | NA | GAD | Detail | |
| 0.003 | Pregnancy in Diabetics | The 0.1% of the population with glucokinase monogenic diabetes can be recognized... | BeFree,GAD | 24550216 | Detail |
| <0.001 | Retinal Diseases | NA | BeFree | Detail | |
| <0.001 | Seizures | NA | BeFree | Detail | |
| <0.001 | sudden infant death syndrome | NA | BeFree | Detail | |
| 0.002 | Thinness | NA | GAD | Detail | |
| <0.001 | Werner syndrome | NA | BeFree | Detail | |
| 0.145 | gestational diabetes | The 0.1% of the population with glucokinase monogenic diabetes can be recognized... | BeFree,CLINVAR,GAD,LHGDN | 24550216 | Detail |
| 0.145 | gestational diabetes | Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) w... | BeFree,CLINVAR,GAD,LHGDN | 25633883 | Detail |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| <0.001 | Disorder of carbohydrate metabolism | NA | BeFree | Detail | |
| 0.003 | Neonatal diabetes mellitus | Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A wer... | BeFree | 25755231 | Detail |
| <0.001 | Diabetes, Autoimmune | We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune... | BeFree | 25467089 | Detail |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Dyslipidemias | NA | BeFree | Detail | |
| <0.001 | Hemiplegic migraine | NA | BeFree | Detail | |
| 0.004 | Impaired glucose tolerance | NA | BeFree | Detail | |
| 0.154 | Maturity onset diabetes mellitus in young | Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause matu... | BeFree,CTD_human | 24735133 | Detail |
| 0.154 | Maturity onset diabetes mellitus in young | Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1... | BeFree,CTD_human | 25174781 | Detail |
| 0.154 | Maturity onset diabetes mellitus in young | After adjustment, FMD remained lower in HNF1A-MODY (P=0.0005) and GCK-MODY patie... | BeFree,CTD_human | 25501962 | Detail |
| 0.154 | Maturity onset diabetes mellitus in young | The principal objective of the current study is to determine the outcomes and cl... | BeFree,CTD_human | 25935773 | Detail |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | neuropathy | NA | BeFree | Detail | |
| 0.006 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| 0.415 | Diabetes Mellitus, Non-Insulin-Dependent | A case-control design comprising 884 type 2 diabetic patients and 513 control su... | BeFree | 19368707 | Detail |
| <0.001 | Microalbuminuria | NA | BeFree | Detail | |
| <0.001 | Cardiac defects | NA | BeFree | Detail | |
| <0.001 | Hypoglycaemic episode | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | Intima-media thickness and endothelial dysfunction in GCK and HNF1A-MODY patient... | BeFree | 25501962 | Detail |
| 0.002 | Carcinoma, Pancreatic Ductal | NA | GAD | Detail | |
| <0.001 | Arthritis, Collagen-Induced | NA | BeFree | Detail | |
| 0.003 | Glucose Metabolism Disorders | NA | LHGDN | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Steatohepatitis | NA | BeFree | Detail | |
| 0.081 | Hyperinsulinemic hypoglycemia, familial, 2 | NA | BeFree,MGD | Detail | |
| <0.001 | Diabetes in youth | NA | BeFree | Detail | |
| <0.001 | Diabetes in children | NA | BeFree | Detail | |
| 0.127 | Congenital Hyperinsulinism | NA | CTD_human,GAD,LHGDN | Detail | |
| 0.145 | 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 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.005 | atherosclerosis | NA | GAD | Detail | |
| <0.001 | Autoimmune Diseases | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| GCK gene-body hypomethylation is associated with the risk of coronary heart disease. | DisGeNET | Detail |
| GCK gene-body hypomethylation is associated with the risk of coronary heart disease. | DisGeNET | Detail |
| The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical charact... | DisGeNET | Detail |
| Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is prim... | DisGeNET | Detail |
| Glucokinase MODY and implications for treatment goals of common forms of diabetes. | DisGeNET | Detail |
| The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical charact... | DisGeNET | Detail |
| In humans, activating GCK mutations cause familial hyperinsulinaemic hypoglycaemia (GCK-HH), leading... | DisGeNET | Detail |
| Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is prim... | DisGeNET | Detail |
| Glucokinase MODY and implications for treatment goals of common forms of diabetes. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Small, potentially atherogenic HDL content differed significantly with the GCK-MODY group showing co... | DisGeNET | Detail |
| The difference between TT homozygotes and other genotypes was similar in magnitude within the GCK-MO... | DisGeNET | Detail |
| Of 58 patients with presumed T1D who underwent genetic testing, four were found to have GCK and one ... | DisGeNET | Detail |
| We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune diabetes coexist an... | DisGeNET | Detail |
| Out of these 78 people with GCK-MODY and 40 additional family members with hyperglycaemia whose gene... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperg... | DisGeNET | Detail |
| Mutations in exons 10 and 11 of human glucokinase result in conformational variations in the active ... | DisGeNET | Detail |
| Out of these 78 people with GCK-MODY and 40 additional family members with hyperglycaemia whose gene... | DisGeNET | Detail |
| Glucokinase (GCK) mutations cause a monogenic form of hyperglycaemia (GCK-MODY) characterised by fas... | DisGeNET | Detail |
| GCK-MODY patients are typically characterized by a moderate fasting hyperglycemia; however, little i... | DisGeNET | Detail |
| The principal objective of the current study is to determine the outcomes and clinical management of... | DisGeNET | Detail |
| Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase M... | DisGeNET | Detail |
| Familial adult onset hyperinsulinism due to an activating glucokinase mutation: implications for pha... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Biochemical and structural analysis of this loop variant and GCK variants associated with hyperinsul... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical charact... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical charact... | DisGeNET | Detail |
| Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) with gestational diab... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Homozygous mutations in GCK, EIF2AK3 and the distal enhancer region of PTF1A were the commonest caus... | DisGeNET | Detail |
| We report a peculiar case of a GCK/MODY2 family in whom monogenic and autoimmune diabetes coexist an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Heterozygous loss-of-function mutations in the glucokinase (GCK) gene cause maturity-onset diabetes ... | DisGeNET | Detail |
| Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. | DisGeNET | Detail |
| After adjustment, FMD remained lower in HNF1A-MODY (P=0.0005) and GCK-MODY patients (P=0.01) as comp... | DisGeNET | Detail |
| The principal objective of the current study is to determine the outcomes and clinical management of... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Intima-media thickness and endothelial dysfunction in GCK and HNF1A-MODY patients. | 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 |
| 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
- chr7:44,182,812-44,229,038
- Variant Type
- snv
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