chr2:190880821:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:191,745,547-191,830,278 |
| hg38 | chr2:190,880,821-190,965,552 |
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 | Chikungunya Fever | In addition, these GAC-ELISAs offer good diagnostic value to determine the recen... | BeFree | 24880071 | Detail |
| <0.001 | colorectal carcinoma | Further haplotype analysis revealed that the 'GAC' in the SMAD7 (mothers against... | BeFree | 24557062 | Detail |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | Primary myelofibrosis | A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were scre... | BeFree | 22052707 | Detail |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | Hamartoma Syndrome, Multiple | NA | BeFree | Detail | |
| <0.001 | Sensorineural Hearing Loss (disorder) | Furthermore, the AGT and GAC haplotypes were associated with a significantly hig... | BeFree | 26051414 | Detail |
| 0.006 | hepatic encephalopathy | Our findings support the role of the GLS long microsatellite in the development ... | BeFree,GAD,LHGDN | 25880019 | Detail |
| 0.001 | HIV Infections | NA | BeFree | Detail | |
| <0.001 | insulinoma | NA | BeFree | Detail | |
| <0.001 | Cystic kidney | Our data, once confirmed in other PKD models, suggest that future therapeutic ap... | BeFree | 26155843 | Detail |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Acute lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | These findings show that targeting glutamine addiction via GLS1 inhibition offer... | BeFree | 26186940 | Detail |
| 0.003 | liver cirrhosis | The aim of the present study was to investigate, using the critical flicker freq... | BeFree,GAD | 25880019 | Detail |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | NA | BeFree | Detail | |
| 0.003 | melanoma | NA | LHGDN | Detail | |
| <0.001 | multiple endocrine neoplasia type 2A | NA | BeFree | Detail | |
| 0.120 | Degenerative polyarthritis | NA | CTD_human | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Rectal Neoplasms | NA | BeFree | Detail | |
| 0.003 | schizophrenia | Studies of the glutamate metabolic pathway have been limited, although there is ... | BeFree,GAD | 25315318 | Detail |
| <0.001 | thalassemia | NA | BeFree | Detail | |
| <0.001 | tuberculosis | NA | BeFree | Detail | |
| 0.002 | Weight Gain | NA | GAD | Detail | |
| <0.001 | Central Nervous System Neoplasms | NA | BeFree | Detail | |
| <0.001 | Prion Diseases | NA | BeFree | Detail | |
| <0.001 | fatal familial insomnia | NA | BeFree | Detail | |
| <0.001 | exfoliation syndrome | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | malignant fibrous histiocytoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | Elevated expression of glutaminase confers glucose utilization via glutaminolysi... | BeFree | 25482439 | Detail |
| <0.001 | dementia | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tum... | BeFree | 25915584 | Detail |
| <0.001 | prostate carcinoma | Elevated expression of glutaminase confers glucose utilization via glutaminolysi... | BeFree | 25482439 | Detail |
| 0.003 | breast carcinoma | By investigating the glutamine metabolism of breast cancer cells in response to ... | BeFree | 25625774 | Detail |
| 0.003 | breast carcinoma | Inhibition of MYC, SLC1A5 and GLS decreased AI resistant breast cancer cell prol... | BeFree | 25683269 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | West Nile viral infection | NA | BeFree | Detail | |
| <0.001 | Adenoma of large intestine | NA | BeFree | Detail | |
| <0.001 | alpha^+^ Thalassemia | NA | BeFree | Detail | |
| <0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
| <0.001 | Cancer Cell Growth | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | Further haplotype analysis revealed that the 'GAC' in the SMAD7 (mothers against... | BeFree | 24557062 | Detail |
| <0.001 | Rectal Tumors | NA | BeFree | Detail | |
| <0.001 | Glioblastoma multiforme | Expression of GLS following mTOR inhibitor treatment promoted GBM survival in an... | BeFree | 25798620 | Detail |
| <0.001 | Cirrhosis | The aim of the present study was to investigate, using the critical flicker freq... | BeFree | 25880019 | Detail |
| <0.001 | Lattice corneal dystrophy Type I | Of the 125 M. tuberculosis isolates, 35 (28%) were found to be rifampicin-resist... | BeFree | 25526063 | Detail |
| <0.001 | familial medullary thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Precursor Cell Lymphoblastic Leukemia Lymphoma | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.002 | Weight Gain Adverse Event | NA | GAD | Detail | |
| 0.120 | Spontaneous abortion | NA | CTD_human | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Primary myelofibrosis | NA | BeFree | Detail | |
| <0.001 | AIDS Dementia Complex | NA | BeFree | Detail | |
| <0.001 | alpha-Thalassemia | NA | BeFree | Detail | |
| <0.001 | Anemia, Hemolytic | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | beta thalassemia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| <0.001 | Bladder Neoplasm | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of breast | By investigating the glutamine metabolism of breast cancer cells in response to ... | BeFree | 25625774 | Detail |
| 0.003 | Malignant neoplasm of breast | Inhibition of MYC, SLC1A5 and GLS decreased AI resistant breast cancer cell prol... | BeFree | 25683269 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | Freshly resected paired lung tissue slices cultured in 13C6-glucose or 13C5,15N2... | BeFree | 25607840 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In addition, these GAC-ELISAs offer good diagnostic value to determine the recent/past CHIKV infecti... | DisGeNET | Detail |
| Further haplotype analysis revealed that the 'GAC' in the SMAD7 (mothers against decapentaplegic hom... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutati... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, the AGT and GAC haplotypes were associated with a significantly higher prevalence of SS... | DisGeNET | Detail |
| Our findings support the role of the GLS long microsatellite in the development of HE; this could be... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our data, once confirmed in other PKD models, suggest that future therapeutic approaches targeting t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings show that targeting glutamine addiction via GLS1 inhibition offers a potential novel ... | DisGeNET | Detail |
| The aim of the present study was to investigate, using the critical flicker frequency (CFF) test, wh... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Studies of the glutamate metabolic pathway have been limited, although there is some evidence that e... | 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 |
| Elevated expression of glutaminase confers glucose utilization via glutaminolysis in prostate cancer... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis. | DisGeNET | Detail |
| Elevated expression of glutaminase confers glucose utilization via glutaminolysis in prostate cancer... | DisGeNET | Detail |
| By investigating the glutamine metabolism of breast cancer cells in response to treatment with Taxol... | DisGeNET | Detail |
| Inhibition of MYC, SLC1A5 and GLS decreased AI resistant breast cancer cell proliferation. | 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 |
| Further haplotype analysis revealed that the 'GAC' in the SMAD7 (mothers against decapentaplegic hom... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of GLS following mTOR inhibitor treatment promoted GBM survival in an α-ketoglutarate-dep... | DisGeNET | Detail |
| The aim of the present study was to investigate, using the critical flicker frequency (CFF) test, wh... | DisGeNET | Detail |
| Of the 125 M. tuberculosis isolates, 35 (28%) were found to be rifampicin-resistant and using the LC... | 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 |
| By investigating the glutamine metabolism of breast cancer cells in response to treatment with Taxol... | DisGeNET | Detail |
| Inhibition of MYC, SLC1A5 and GLS decreased AI resistant breast cancer cell proliferation. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Freshly resected paired lung tissue slices cultured in 13C6-glucose or 13C5,15N2-glutamine tracers c... | 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
- rs28934572 dbSNP
- Genome
- hg38
- Position
- chr2:190,880,821-190,965,552
- Variant Type
- snv
Genome browser