chr3:134795260:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:134,514,102-134,979,309 |
| hg38 | chr3:134,795,260-135,260,467 |
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 |
|---|---|---|---|---|---|
| 0.002 | squamous cell carcinoma | NA | GAD | Detail | |
| <0.001 | cerebral palsy | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.003 | Mental Depression | NA | BeFree,GAD | Detail | |
| <0.001 | depressive disorder | NA | BeFree | Detail | |
| 0.002 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| <0.001 | disseminated intravascular coagulation | NA | BeFree | Detail | |
| <0.001 | Drug abuse | NA | BeFree | Detail | |
| 0.002 | Esophageal Neoplasms | NA | GAD | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | chronic granulomatous disease | NA | BeFree | Detail | |
| <0.001 | Herpes NOS | NA | BeFree | Detail | |
| <0.001 | Von Hippel-Lindau syndrome | NA | BeFree | Detail | |
| <0.001 | Hypertensive disease | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | multiple endocrine neoplasia type 1 | NA | BeFree | Detail | |
| 0.001 | Neoplasm Metastasis | Among 46 total samples, UCHL1 expression at both the gene and protein level was ... | BeFree | 24854489 | Detail |
| <0.001 | neurofibromatosis 1 | NA | BeFree | Detail | |
| <0.001 | panic disorder | NA | BeFree | Detail | |
| 0.002 | Parkinson disease | NA | GAD | Detail | |
| <0.001 | periodontitis | NA | BeFree | Detail | |
| <0.001 | Respiratory Tract Infections | NA | BeFree | Detail | |
| <0.001 | Tachycardia | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Unipolar Depression | NA | BeFree | Detail | |
| <0.001 | vasculitis | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Arterial thrombosis | MPA's pro-thrombotic effects were prevented by mifepristone, while NET-A did not... | BeFree | 24923668 | Detail |
| <0.001 | Recurrent major depressive episodes | Association study between 5-HT2A and NET gene polymorphisms and recurrent major ... | BeFree | 26051731 | Detail |
| 0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| <0.001 | Carcinoma of unknown primary | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Invasive Pulmonary Aspergillosis | NA | BeFree | Detail | |
| <0.001 | MRSA - Methicillin resistant Staphylococcus aureus infection | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Mood Disorders | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | Multivariate regression analysis showed that lymph node metastasis and high TERC... | BeFree | 26026117 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Rhabdoid Tumor of the Kidney | NA | BeFree | Detail | |
| <0.001 | Gastric hyperplastic polyp | GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gas... | BeFree | 25007176 | Detail |
| <0.001 | Transfusion related acute lung injury | NA | BeFree | Detail | |
| <0.001 | attention deficit hyperactivity disorder | Association of norepinephrine transporter (NET, SLC6A2) genotype with ADHD-relat... | BeFree | 25724484 | Detail |
| <0.001 | major depressive disorder | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of large intestine | Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin... | BeFree | 25007176 | Detail |
| <0.001 | Well Differentiated Pancreatic Endocrine Tumor | This study demonstrates that a blood-based multianalyte NET gene transcript meas... | BeFree | 26032155 | Detail |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | PANIC DISORDER 1 | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Pancreatic islet cell tumors | NA | BeFree | Detail | |
| <0.001 | Digestive System Neuroendocrine Tumor | NA | BeFree | Detail | |
| <0.001 | anorexia nervosa | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | aspergillosis | NA | BeFree | Detail | |
| <0.001 | Bacteremia | NA | BeFree | Detail | |
| <0.001 | Behavior Disorders | NA | BeFree | Detail | |
| <0.001 | Carcinoid Tumor | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| Among 46 total samples, UCHL1 expression at both the gene and protein level was significantly greate... | 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 |
| MPA's pro-thrombotic effects were prevented by mifepristone, while NET-A did not affect arterial thr... | DisGeNET | Detail |
| Association study between 5-HT2A and NET gene polymorphisms and recurrent major depression disorder ... | 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 |
| Multivariate regression analysis showed that lymph node metastasis and high TERC expression were ind... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| GNAS1 mutation is not a frequent molecular event in GEP-NETs or hyperplastic gastric polyps. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association of norepinephrine transporter (NET, SLC6A2) genotype with ADHD-related phenotypes: findi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutation status of GNAS1 exon 8 was analyzed in one hundred thirty-five formalin-fixed, paraffin-emb... | DisGeNET | Detail |
| This study demonstrates that a blood-based multianalyte NET gene transcript measurement of well-diff... | 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 |
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
- chr3:134,795,260-135,260,467
- Variant Type
- snv
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