chr6:132129160:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:132,129,160-132,216,295 |
| hg38 | chr6:131,808,020-131,895,155 |
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 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| 0.003 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.006 | Coronary heart disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.004 | Diabetes | NA | BeFree | Detail | |
| 0.005 | diabetes mellitus | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.330 | Diabetes Mellitus, Non-Insulin-Dependent | Ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been st... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25368487 | Detail |
| 0.330 | Diabetes Mellitus, Non-Insulin-Dependent | Liver ENPP1 protein increases with remission of type 2 diabetes after gastric by... | BeFree,CLINVAR,CTD_human,GAD,LHGDN | 25539584 | Detail |
| 0.012 | Diabetic Nephropathy | Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney dis... | BeFree,GAD,LHGDN | 25794151 | Detail |
| 0.120 | endometriosis | NA | CTD_human | Detail | |
| 0.005 | Fatty Liver | NA | GAD | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| 0.005 | hepatitis C | NA | BeFree,GAD,LHGDN | Detail | |
| 0.008 | hyperglycemia | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | hyperinsulinism | NA | GAD | Detail | |
| 0.006 | Hypertensive disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Hypertriglyceridemia | NA | GAD | Detail | |
| 0.014 | Insulin resistance | NA | GAD | Detail | |
| <0.001 | Kidney Diseases | NA | BeFree | Detail | |
| 0.009 | Kidney Failure, Chronic | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | hairy cell leukemia | NA | BeFree | Detail | |
| <0.001 | malaria | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.009 | myocardial infarction | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Obesity, Morbid | NA | BeFree,GAD | Detail | |
| 0.003 | Degenerative polyarthritis | NA | BeFree,GAD | Detail | |
| <0.001 | osteomalacia | NA | BeFree | Detail | |
| <0.001 | Ovarian Diseases | NA | BeFree | Detail | |
| 0.013 | polycystic ovary syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| 0.005 | pre-eclampsia | NA | GAD,LHGDN | Detail | |
| <0.001 | progeria | NA | BeFree | Detail | |
| 0.122 | pseudoxanthoma elasticum | After correction for multiple testing according to the Bonferroni method, one SN... | BeFree,ORPHANET | 25025693 | Detail |
| 0.122 | pseudoxanthoma elasticum | The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive... | BeFree,ORPHANET | 25264593 | Detail |
| 0.122 | pseudoxanthoma elasticum | Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile... | BeFree,ORPHANET | 25615550 | Detail |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.330 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| 0.002 | schizophrenia | NA | GAD | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.005 | Viremia | NA | GAD,LHGDN | Detail | |
| 0.005 | Peripheral Vascular Diseases | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Bicuspid aortic valve | NA | BeFree | Detail | |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| 0.003 | Myocardial Ischemia | NA | BeFree,GAD | Detail | |
| <0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
| 0.002 | Ossification of Posterior Longitudinal Ligament | NA | GAD | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Dyslipidemias | NA | BeFree | Detail | |
| <0.001 | Osteoarthritis of the hand | NA | BeFree | Detail | |
| 0.120 | Idiopathic arterial calcification of infancy | NA | ORPHANET | Detail | |
| 0.003 | Impaired glucose tolerance | NA | BeFree,LHGDN | Detail | |
| <0.001 | Phosphate Diabetes | NA | BeFree | Detail | |
| <0.001 | Prostatic Intraepithelial Neoplasias | NA | BeFree | Detail | |
| 0.002 | Complications of Diabetes Mellitus | NA | GAD | Detail | |
| <0.001 | autosomal dominant hypophosphatemic rickets | NA | BeFree | Detail | |
| 0.001 | Autosomal recessive hypophosphatemic vitamin D refractory rickets | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Non-alcoholic Fatty Liver Disease | NA | BeFree | Detail | |
| <0.001 | Idiopathic osteoarthritis | NA | BeFree | Detail | |
| <0.001 | Osteoarthritis of distal interphalangeal joint | NA | BeFree | Detail | |
| 0.001 | Nevus elasticus | Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile... | BeFree | 25615550 | Detail |
| 0.006 | Overweight | NA | BeFree,GAD | Detail | |
| 0.002 | body mass | NA | GAD | Detail | |
| 0.015 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| <0.001 | Calcium pyrophosphate deposition disease | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | It was possible to identify a selective group of phosphatases upregulated only i... | BeFree | 25201346 | Detail |
| <0.001 | Moderate obesity | NA | BeFree | Detail | |
| <0.001 | bile duct carcinoma | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| 0.002 | Acute coronary syndrome | NA | GAD | Detail | |
| <0.001 | Aortic calcification | NA | BeFree | Detail | |
| <0.001 | High-Grade Prostatic Intraepithelial Neoplasia | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| 0.002 | Hypertriglyceridemia result | NA | GAD | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Hypophosphatemic rickets | Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH)... | BeFree | 25042154 | Detail |
| <0.001 | HYPERPIGMENTATION, FAMILIAL PROGRESSIVE | NA | BeFree | Detail | |
| 0.562 | arterial calcification of infancy | Spontaneous asj-2J mutant mouse as a model for generalized arterial calcificatio... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25479107 | Detail |
| 0.080 | SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1 | NA | MGD | Detail | |
| 0.322 | ossification of the posterior longitudinal ligament of spine | NA | CTD_human,GAD,MGD,UNIPROT | Detail | |
| 0.005 | coronary artery disease | NA | GAD | Detail | |
| <0.001 | Chronic kidney disease stage 5 | NA | BeFree | Detail | |
| <0.001 | Pediatric Obesity | NA | BeFree | Detail | |
| <0.001 | Familial Hypophosphatemic Rickets | Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH)... | BeFree | 25042154 | Detail |
| <0.001 | Vitamin D-Resistant Rickets, X-Linked | NA | BeFree | Detail | |
| <0.001 | Rickets, X-Linked Hypophosphatemic | NA | BeFree | Detail | |
| <0.001 | aortic valve disease 2 | NA | BeFree | Detail | |
| <0.001 | Insulin resistance syndrome | NA | BeFree | Detail | |
| 0.080 | OSTEOARTHRITIS SUSCEPTIBILITY 1 | NA | MGD | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | anemia | NA | BeFree | Detail | |
| <0.001 | ankylosis | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Bile Duct Diseases | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Bone Diseases | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | It was possible to identify a selective group of phosphatases upregulated only i... | BeFree | 25201346 | Detail |
| 0.083 | calcinosis | NA | BeFree,GAD,RGD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been studied in relation to... | DisGeNET | Detail |
| Liver ENPP1 protein increases with remission of type 2 diabetes after gastric bypass surgery. | DisGeNET | Detail |
| Association between the ENPP1 K121Q polymorphism and risk of diabetic kidney disease: a systematic r... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| After correction for multiple testing according to the Bonferroni method, one SNV in the ENPP1 gene ... | DisGeNET | Detail |
| The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive connective tissue d... | DisGeNET | Detail |
| Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | 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 |
| 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 |
| Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| It was possible to identify a selective group of phosphatases upregulated only in the ER- ERBB2+ sub... | 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 |
| Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessiv... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a larg... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Heritable forms of hypophosphatemic rickets (HR) include X-linked dominant (XLH), autosomal recessiv... | 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 |
| It was possible to identify a selective group of phosphatases upregulated only in the ER- ERBB2+ sub... | 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
- rs386584794 dbSNP
- Genome
- hg19
- Position
- chr6:132,129,160-132,216,295
- Variant Type
- snv
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