chr5:95997777:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:95,997,777-96,110,387 |
| hg38 | chr5:96,662,073-96,774,683 |
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 |
|---|---|---|---|---|---|
| 0.080 | brain ischemia | NA | RGD | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| <0.001 | Colonic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Connective Tissue Diseases | NA | BeFree | Detail | |
| <0.001 | cowpox | NA | BeFree | Detail | |
| <0.001 | Cyst | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | Treating diabetic mice with a calpain inhibitor prevented loss of platelet dicer... | BeFree | 25944670 | Detail |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | glomerulonephritis | NA | BeFree | Detail | |
| <0.001 | Heart failure | NA | BeFree | Detail | |
| <0.001 | congestive heart failure | NA | BeFree | Detail | |
| <0.001 | HIV Infections | NA | BeFree | Detail | |
| 0.002 | Hodgkin Disease | NA | GAD | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| 0.001 | ischemia | The role of calpain in ER stress was also demonstrated in an in vivo model of is... | BeFree | 25660447 | Detail |
| <0.001 | Polycystic Kidney Diseases | NA | BeFree | Detail | |
| <0.001 | Lupus Vulgaris | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Discoid | NA | BeFree | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Machado-Joseph disease | For this purpose, we administered orally the calpain inhibitor BDA-410 to a lent... | BeFree | 24817574 | Detail |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | mitral valve stenosis | NA | BeFree | Detail | |
| <0.001 | multiple sclerosis | NA | BeFree | Detail | |
| <0.001 | muscular atrophy | NA | BeFree | Detail | |
| <0.001 | Mycoplasma Infections | NA | BeFree | Detail | |
| <0.001 | myocardial infarction | Over-expression of calpastatin inhibits calpain activation and attenuates post-i... | BeFree | 25786109 | Detail |
| 0.080 | Myocardial Reperfusion Injury | NA | RGD | Detail | |
| 0.120 | Necrosis | NA | CTD_human | Detail | |
| <0.001 | nephritis | NA | BeFree | Detail | |
| <0.001 | nervous system disorder | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.007 | Parkinson disease | NA | BeFree,GAD | Detail | |
| 0.122 | psoriasis | NA | GAD,GWASCAT | Detail | |
| <0.001 | pulmonary fibrosis | NA | BeFree | Detail | |
| 0.080 | Reperfusion Injury | NA | RGD | Detail | |
| <0.001 | retinal degeneration | NA | BeFree | Detail | |
| <0.001 | Rheumatism | NA | BeFree | Detail | |
| <0.001 | hereditary spherocytosis | NA | BeFree | Detail | |
| 0.080 | Cerebrovascular accident | NA | RGD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | vasculitis | NA | BeFree | Detail | |
| <0.001 | Hearing Loss, Mixed Conductive-Sensorineural | NA | BeFree | Detail | |
| 0.120 | Liver Failure, Acute | NA | CTD_human | Detail | |
| <0.001 | hepatoblastoma | NA | BeFree | Detail | |
| 0.001 | Sore to touch | NA | BeFree | Detail | |
| 0.080 | Sepsis | NA | RGD | Detail | |
| <0.001 | Cerebellar degeneration | Oral administration of the calpain inhibitor BDA-410 decreased both fragments fo... | BeFree | 24817574 | Detail |
| <0.001 | Knuckle pads | Here we show that loss-of-function mutations in calpastatin (CAST) are the genet... | BeFree | 25683118 | Detail |
| <0.001 | lissencephaly | NA | BeFree | Detail | |
| <0.001 | Stage III Colon Cancer | NA | BeFree | Detail | |
| <0.001 | Senile Plaques | NA | BeFree | Detail | |
| <0.001 | lupus erythematosus | NA | BeFree | Detail | |
| <0.001 | Overlap syndrome | NA | BeFree | Detail | |
| <0.001 | Glaucomatous retinal degeneration | NA | BeFree | Detail | |
| <0.001 | Neurodegenerative Disorders | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| 0.080 | Hypoxia-Ischemia, Brain | NA | RGD | Detail | |
| 0.080 | Drug-Induced Liver Injury | NA | RGD | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | NA | BeFree | Detail | |
| <0.001 | SPHEROCYTOSIS, TYPE 1 (disorder) | NA | BeFree | Detail | |
| <0.001 | Plaque, Amyloid | NA | BeFree | Detail | |
| <0.001 | Stage III Colon Cancer AJCC v7 | NA | BeFree | Detail | |
| 0.002 | Alcoholic Intoxication, Chronic | NA | GAD | Detail | |
| 0.003 | Alzheimer's disease | NA | BeFree,LHGDN | Detail | |
| <0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.002 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail |
Annotation
Annotations
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
- hg19
- Position
- chr5:95,997,777-96,110,387
- Variant Type
- snv
Genome browser