chr5:132369710:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:131,705,402-131,731,304 |
| hg38 | chr5:132,369,710-132,395,612 |
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 |
|---|---|---|---|---|---|
| 0.121 | Cardiomyopathy, Dilated | NA | BeFree,CTD_human | Detail | |
| <0.001 | hypertrophic cardiomyopathy | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.025 | ulcerative colitis | NA | BeFree,GAD | Detail | |
| <0.001 | colorectal carcinoma | Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxalipla... | BeFree | 25075794 | Detail |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.120 | Coxsackievirus Infections | NA | CTD_human | Detail | |
| 0.080 | Crohn Disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree,GAD | Detail | |
| <0.001 | Ehlers-Danlos syndrome | NA | BeFree | Detail | |
| <0.001 | Disorder of eye | Association of BTG2, CYR61, ZFP36, and SCD gene polymorphisms with Graves' disea... | BeFree | 24780075 | Detail |
| <0.001 | pathologic fistula | NA | BeFree | Detail | |
| <0.001 | Graves Disease | Association of BTG2, CYR61, ZFP36, and SCD gene polymorphisms with Graves' disea... | BeFree | 24780075 | Detail |
| 0.002 | Growth Disorders | NA | GAD | Detail | |
| 0.001 | cardiac arrest | NA | BeFree | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| <0.001 | Hemoglobinopathies | NA | BeFree | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| <0.001 | hypoglycemia | NA | BeFree | Detail | |
| 0.120 | Inflammation | NA | CTD_human | Detail | |
| 0.020 | Inflammatory Bowel Diseases | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | irritable bowel syndrome | NA | BeFree | Detail | |
| <0.001 | Kartagener syndrome | Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder th... | BeFree | 23379544 | Detail |
| <0.001 | Leg Ulcer | NA | BeFree | Detail | |
| 0.002 | Lipoidosis | NA | GAD | Detail | |
| 0.001 | long QT syndrome | Our results support the use of genetic testing of KCNQ1, KCNH2, and SCN5A as par... | BeFree | 24667783 | Detail |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.002 | myopathy | NA | GAD | Detail | |
| 0.120 | myocarditis | NA | CTD_human | Detail | |
| <0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.120 | Peripheral neuropathy | NA | BeFree,CTD_human | Detail | |
| 0.002 | pre-eclampsia | NA | GAD | Detail | |
| 0.002 | Pregnancy Complications | NA | GAD | Detail | |
| 0.003 | psoriasis | NA | BeFree,GAD | Detail | |
| 0.002 | Respiratory Syncytial Virus Infections | NA | GAD | Detail | |
| <0.001 | Syncope | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.003 | tuberculosis | NA | BeFree,GAD | Detail | |
| 0.002 | Left Ventricular Hypertrophy | NA | GAD | Detail | |
| <0.001 | Malignant ascites | NA | BeFree | Detail | |
| <0.001 | Gastrointestinal Stromal Tumors | NA | BeFree | Detail | |
| 0.002 | Multiple Acyl Coenzyme A Dehydrogenase Deficiency | NA | GAD | Detail | |
| <0.001 | Solid tumour | NA | BeFree | Detail | |
| <0.001 | Tumor necrosis | NA | BeFree | Detail | |
| <0.001 | Thyroid associated opthalmopathies | We found associations of SNPs in IEGs and SCD with GD and/or GO; however, confir... | BeFree | 24780075 | Detail |
| 0.564 | Renal carnitine transport defect | Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder th... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 23379544 | Detail |
| 0.564 | Renal carnitine transport defect | The present study aimed to identify SLC22A5 gene mutations and analyze the poten... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 25132046 | Detail |
| <0.001 | Skeletal dysplasia | NA | BeFree | Detail | |
| <0.001 | Metabolic symptoms | Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder th... | BeFree | 23379544 | Detail |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| 0.001 | cardiac event | NA | BeFree | Detail | |
| <0.001 | Non-sustained ventricular tachycardia | NA | BeFree | Detail | |
| 0.009 | Cardiomyopathies | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Congenital long QT syndrome | NA | BeFree | Detail | |
| <0.001 | Xenograft Model | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxalipla... | BeFree,GAD | 25075794 | Detail |
| 0.002 | Fibrinogen Adverse Event | NA | GAD | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| 0.002 | Chronic ulcerative colitis | NA | GAD | Detail | |
| 0.003 | myelodysplastic syndrome | NA | LHGDN | Detail | |
| 0.002 | Fibrinogen Adverse Event | [A genome-wide survey of the human genome identifies novel loci related to commo... | GAD | 20031577 | Detail |
| 0.002 | Anemia, Sickle Cell | Acid sphingomyelinase is activated in sickle cell erythrocytes and contributes t... | BeFree | 25075126 | Detail |
| 0.003 | Arthritis, Psoriatic | NA | BeFree,GAD | Detail | |
| 0.003 | rheumatoid arthritis | NA | BeFree,GAD | Detail | |
| 0.123 | asthma | NA | BeFree,GAD,GWASCAT | Detail | |
| <0.001 | Behcet Syndrome | NA | BeFree | Detail | |
| <0.001 | beta thalassemia | NA | BeFree | Detail | |
| <0.001 | Bloom syndrome | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.002 | Bronchiolitis, Viral | NA | GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxaliplatin through the PPAR... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of BTG2, CYR61, ZFP36, and SCD gene polymorphisms with Graves' disease and ophthalmopath... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of BTG2, CYR61, ZFP36, and SCD gene polymorphisms with Graves' disease and ophthalmopath... | 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 |
| Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results support the use of genetic testing of KCNQ1, KCNH2, and SCN5A as part of the diagnosis o... | 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 |
| We found associations of SNPs in IEGs and SCD with GD and/or GO; however, confirmation in a differen... | DisGeNET | Detail |
| Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with ca... | DisGeNET | Detail |
| The present study aimed to identify SLC22A5 gene mutations and analyze the potential relationship be... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in SLC22A5 result in primary carnitine deficiency (PCD), a disorder that manifests with ca... | 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 |
| Luteolin potentiates the sensitivity of colorectal cancer cell lines to oxaliplatin through the PPAR... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [A genome-wide survey of the human genome identifies novel loci related to common chronic inflammato... | DisGeNET | Detail |
| Acid sphingomyelinase is activated in sickle cell erythrocytes and contributes to inflammatory micro... | 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 |
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
- rs10479002 dbSNP
- Genome
- hg38
- Position
- chr5:132,369,710-132,395,612
- Variant Type
- snv
Genome browser