chr7:134442356:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr7:134,127,108-134,143,852 |
| hg38 | chr7:134,442,356-134,459,100 |
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 | However, until now only a handful number of genetic variants were reported to be... | BeFree | 25169573 | Detail |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.003 | Colonic Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| 0.002 | Coronary heart disease | NA | GAD | Detail | |
| 0.004 | Diabetes | However, until now only a handful number of genetic variants were reported to be... | BeFree | 25169573 | Detail |
| 0.004 | Diabetes | AR-TG mice homozygous for the transgene demonstrated a conditional cataract phen... | BeFree | 25541468 | Detail |
| 0.007 | diabetes mellitus | However, until now only a handful number of genetic variants were reported to be... | BeFree,LHGDN | 25169573 | Detail |
| 0.007 | diabetes mellitus | AR-TG mice homozygous for the transgene demonstrated a conditional cataract phen... | BeFree,LHGDN | 25541468 | Detail |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.008 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| 0.026 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD | Detail | |
| <0.001 | Diabetic Angiopathies | NA | BeFree | Detail | |
| <0.001 | diabetic cataract | NA | BeFree | Detail | |
| 0.021 | Diabetic Nephropathy | NA | BeFree,GAD,LHGDN | Detail | |
| 0.084 | Diabetic Neuropathies | NA | BeFree,GAD,RGD | Detail | |
| 0.112 | diabetic retinopathy | The Relationship Between Aldose Reductase C106T Polymorphism and Diabetic Retino... | BeFree,GAD,LHGDN,RGD | 25722213 | Detail |
| 0.120 | Endometrial Neoplasms | NA | CTD_human | Detail | |
| 0.120 | endometriosis | These cell models characterized in this study will enable further investigations... | BeFree,CTD_human | 25446850 | Detail |
| 0.080 | Galactosemias | NA | RGD | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.003 | Nodular glomerulosclerosis | NA | BeFree,GAD | Detail | |
| <0.001 | Focal glomerulosclerosis | We observed that podocyte-specific deletion of Klf6 increased the susceptibility... | BeFree | 25689250 | Detail |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| 0.080 | Hyperalgesia | NA | RGD | Detail | |
| 0.083 | hyperglycemia | These results indicate that high AR expression in the context of hyperglycemia a... | BeFree,RGD | 25541468 | Detail |
| 0.083 | hyperglycemia | We present a novel mechanism for miR-24 downregulation through hyperglycemia-ind... | BeFree,RGD | 25814526 | Detail |
| 0.003 | Hyperlipidemia | NA | BeFree,LHGDN | Detail | |
| 0.080 | Hypersensitivity | NA | RGD | Detail | |
| <0.001 | Hypertensive disease | NA | BeFree | Detail | |
| 0.080 | hypokalemia | NA | RGD | Detail | |
| <0.001 | Intestinal Diseases | NA | BeFree | Detail | |
| <0.001 | irritable bowel syndrome | NA | BeFree | Detail | |
| 0.004 | ischemia | NA | BeFree,LHGDN | Detail | |
| 0.004 | Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Fibroid Tumor | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | prolymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | In this study, we investigated the mechanism underlying multidrug resistance and... | BeFree | 25449432 | Detail |
| <0.001 | Microangiopathy, Diabetic | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | nephrotic syndrome | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | neutropenia | NA | BeFree | Detail | |
| 0.001 | obesity | NA | BeFree | Detail | |
| 0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Peripheral neuropathy | NA | BeFree | Detail | |
| <0.001 | pneumonia | NA | BeFree | Detail | |
| 0.003 | kidney failure | NA | BeFree,GAD | Detail | |
| 0.004 | Retinal Diseases | However, until now only a handful number of genetic variants were reported to be... | BeFree | 25169573 | Detail |
| 0.004 | Retinal Diseases | Aldose reductase (AR) is thought to play a role in the pathogenesis of diabetic ... | BeFree | 25541468 | Detail |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| <0.001 | Giant Cell Arteritis | NA | BeFree | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| <0.001 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | vasculitis | NA | BeFree | Detail | |
| <0.001 | Synovial Cyst | NA | BeFree | Detail | |
| 0.201 | cataract | Aldose reductase expression as a risk factor for cataract. | BeFree,CTD_human,RGD | 25541468 | Detail |
| <0.001 | benign neoplasm | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Sensory neuropathy | NA | BeFree | Detail | |
| 0.081 | Myocardial Ischemia | NA | BeFree,RGD | Detail | |
| <0.001 | low tension glaucoma | NA | BeFree | Detail | |
| <0.001 | proliferative diabetic retinopathy | NA | BeFree | Detail | |
| <0.001 | endometriosis of ovary | Expression of AKR1B1, AKR1C3 and other genes of prostaglandin F2α biosynthesis a... | BeFree | 25446850 | Detail |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | adrenocortical carcinoma | NA | BeFree | Detail | |
| <0.001 | Childhood asthma | NA | BeFree | Detail | |
| <0.001 | Renal glomerular disease | NA | BeFree | Detail | |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Obesity, Abdominal | NA | BeFree | Detail | |
| <0.001 | Restenosis | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of colon | NA | BeFree | Detail | |
| <0.001 | Diabetic oculopathy | We hypothesize that an elevated level of AR gene expression could confer higher ... | BeFree | 25541468 | Detail |
| 0.125 | Complications of Diabetes Mellitus | NA | CTD_human,GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of adrenal cortex | NA | BeFree | Detail | |
| 0.003 | Chronic Kidney Insufficiency | NA | BeFree,GAD | Detail | |
| <0.001 | Ichthyosis bullosa of Siemens | NA | BeFree | Detail | |
| <0.001 | neuropathy | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Bilateral cataracts (disorder) | Aldose reductase expression as a risk factor for cataract. | BeFree | 25541468 | Detail |
| <0.001 | Intraocular pressure disorder | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| 0.007 | breast carcinoma | Based on our data, we conclude that AKR1B1 and TM6SF1 may serve as candidate met... | BeFree | 25123395 | Detail |
| 0.007 | breast carcinoma | The psi-Pgp-tGC NPs could release functional siRNA molecules after cellular deli... | BeFree | 25481438 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| 0.002 | colon carcinoma | NA | BeFree | Detail | |
| 0.001 | stomach carcinoma | In the present study, we analyzed miRNA expression levels between multidrug-resi... | BeFree | 25407491 | Detail |
| 0.001 | stomach carcinoma | In this study, we investigated the mechanism underlying multidrug resistance and... | BeFree | 25449432 | Detail |
| <0.001 | airway disease | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Microalbuminuria | NA | BeFree | Detail | |
| 0.002 | hypospadias | NA | GAD | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| <0.001 | Enzyme inhibition disorder | NA | BeFree | Detail | |
| <0.001 | Hypersomnia | NA | BeFree | Detail | |
| <0.001 | Macroangiopathy | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Myxoid cyst | NA | BeFree | Detail | |
| <0.001 | Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation | NA | BeFree | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | Renal Insufficiency | NA | BeFree | Detail | |
| <0.001 | Induced Cataract | To investigate this hypothesis, we examined the onset and severity of diabetes-i... | BeFree | 25541468 | Detail |
| <0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | bowel dysfunction | NA | BeFree | Detail | |
| 0.081 | liver carcinoma | NA | BeFree,RGD | Detail | |
| <0.001 | Allergic disposition | NA | BeFree | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| 0.003 | Tumors of Adrenal Cortex | NA | LHGDN | Detail | |
| <0.001 | Adrenal Gland Diseases | NA | BeFree | Detail | |
| 0.081 | arteriosclerosis | NA | BeFree,RGD | Detail | |
| 0.001 | asthma | NA | BeFree | Detail | |
| 0.004 | atherosclerosis | NA | BeFree,LHGDN | Detail | |
| 0.007 | Malignant neoplasm of breast | Based on our data, we conclude that AKR1B1 and TM6SF1 may serve as candidate met... | BeFree | 25123395 | Detail |
| 0.007 | Malignant neoplasm of breast | The psi-Pgp-tGC NPs could release functional siRNA molecules after cellular deli... | BeFree | 25481438 | Detail |
| 0.002 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| However, until now only a handful number of genetic variants were reported to be associated with eit... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, until now only a handful number of genetic variants were reported to be associated with eit... | DisGeNET | Detail |
| AR-TG mice homozygous for the transgene demonstrated a conditional cataract phenotype, whereby they ... | DisGeNET | Detail |
| However, until now only a handful number of genetic variants were reported to be associated with eit... | DisGeNET | Detail |
| AR-TG mice homozygous for the transgene demonstrated a conditional cataract phenotype, whereby they ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Relationship Between Aldose Reductase C106T Polymorphism and Diabetic Retinopathy: An Updated Me... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These cell models characterized in this study will enable further investigations into the role of PG... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We observed that podocyte-specific deletion of Klf6 increased the susceptibility of a resistant mous... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These results indicate that high AR expression in the context of hyperglycemia and insulin deficienc... | DisGeNET | Detail |
| We present a novel mechanism for miR-24 downregulation through hyperglycemia-induced activation of a... | 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 |
| In this study, we investigated the mechanism underlying multidrug resistance and the effect of a PPI... | 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 |
| However, until now only a handful number of genetic variants were reported to be associated with eit... | DisGeNET | Detail |
| Aldose reductase (AR) is thought to play a role in the pathogenesis of diabetic eye diseases, includ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Aldose reductase expression as a risk factor for cataract. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of AKR1B1, AKR1C3 and other genes of prostaglandin F2α biosynthesis and action in ovarian... | 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 hypothesize that an elevated level of AR gene expression could confer higher risk for development... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Aldose reductase expression as a risk factor for cataract. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Based on our data, we conclude that AKR1B1 and TM6SF1 may serve as candidate methylation biomarkers ... | DisGeNET | Detail |
| The psi-Pgp-tGC NPs could release functional siRNA molecules after cellular delivery, and they were ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we analyzed miRNA expression levels between multidrug-resistant gastric carcin... | DisGeNET | Detail |
| In this study, we investigated the mechanism underlying multidrug resistance and the effect of a PPI... | 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 |
| To investigate this hypothesis, we examined the onset and severity of diabetes-induced cataract in t... | 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 |
| Based on our data, we conclude that AKR1B1 and TM6SF1 may serve as candidate methylation biomarkers ... | DisGeNET | Detail |
| The psi-Pgp-tGC NPs could release functional siRNA molecules after cellular delivery, and they were ... | 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
- -
- Genome
- hg38
- Position
- chr7:134,442,356-134,459,100
- Variant Type
- snv
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