chr11:13299325:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:13,299,325-13,408,813 |
| hg38 | chr11:13,277,778-13,387,266 |
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 | cholestasis | NA | RGD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Coronary Arteriosclerosis | NA | BeFree | Detail | |
| <0.001 | Coronary heart disease | NA | BeFree | Detail | |
| 0.003 | Mental Depression | Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | BeFree,GAD | 25799324 | Detail |
| 0.001 | depressive disorder | Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | BeFree | 25799324 | Detail |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| <0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| 0.002 | Head and Neck Neoplasms | NA | GAD | Detail | |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| 0.003 | Hypertensive disease | Expression of circadian rhythm genes CLOCK, BMAL1, and PER1 in buccal epithelial... | BeFree,GAD | 25070164 | Detail |
| 0.120 | Female infertility | NA | CTD_human | Detail | |
| <0.001 | male infertility | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| 0.120 | Myeloid Leukemia, Chronic | NA | BeFree,CTD_human | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.002 | Neoplasm Recurrence, Local | NA | GAD | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | Degenerative polyarthritis | Methods used include the in situ expression of the clock genes Brain and muscle ... | BeFree | 25109449 | Detail |
| <0.001 | ovarian carcinoma | Epigenetic silencing of ARNTL, a circadian gene and potential tumor suppressor i... | BeFree | 25175925 | Detail |
| <0.001 | Pneumococcal Infections | NA | BeFree | Detail | |
| <0.001 | Psychotic Disorders | Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | BeFree | 25799324 | Detail |
| 0.002 | schizophrenia | NA | GAD | Detail | |
| <0.001 | Sleep disturbances | NA | BeFree | Detail | |
| <0.001 | tic disorder | These findings suggest that (i) three tic factors can be discerned with a distin... | BeFree | 25714449 | Detail |
| <0.001 | Gilles de la Tourette syndrome | The Tourette International Collaborative Genetics (TIC Genetics) study, finding ... | BeFree | 24771252 | Detail |
| <0.001 | Gilles de la Tourette syndrome | These findings suggest that (i) three tic factors can be discerned with a distin... | BeFree | 25714449 | Detail |
| 0.002 | Neoplasms, Second Primary | NA | GAD | Detail | |
| <0.001 | gestational diabetes | NA | BeFree | Detail | |
| 0.120 | Myocardial Ischemia | NA | CTD_human | Detail | |
| <0.001 | Angelman syndrome | Moreover, inactivation of Ube3a expression elevates BMAL1 levels in brain region... | BeFree | 25660546 | Detail |
| <0.001 | Follicular thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Cystadenocarcinoma, Serous | NA | BeFree | Detail | |
| <0.001 | Premature aging syndrome | NA | BeFree | Detail | |
| <0.001 | Age-related cognitive decline | NA | BeFree | Detail | |
| <0.001 | Papillary thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Behavioral tic | These findings suggest that (i) three tic factors can be discerned with a distin... | BeFree | 25714449 | Detail |
| <0.001 | Metastatic osteosarcoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma in situ of fallopian tube | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| <0.001 | Overweight | NA | BeFree | Detail | |
| 0.003 | Metabolic syndrome X | NA | BeFree,GAD | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Tumor Initiation | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| 0.080 | Hypoxia-Ischemia, Brain | NA | RGD | Detail | |
| <0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
| 0.003 | Sleep Disorders | NA | BeFree,GAD | Detail | |
| <0.001 | bipolar I disorder | NA | BeFree | Detail | |
| <0.001 | Advanced cancer | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | Epigenetic silencing of ARNTL, a circadian gene and potential tumor suppressor i... | BeFree | 25175925 | Detail |
| <0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
| 0.002 | Malignant neoplasm of breast | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
| <0.001 | Ovarian Serous Adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Epithelioma | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| 0.080 | Priapism, familial idiopathic | NA | MGD | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | Aβ-induced degradation of BMAL1 and CBP leads to circadian rhythm disruption in ... | BeFree | 25888034 | Detail |
| <0.001 | rheumatoid arthritis | Methods used include the in situ expression of the clock genes Brain and muscle ... | BeFree | 25109449 | Detail |
| <0.001 | rheumatoid arthritis | The amplitude of BMAL1-luciferase bioluminescence tended to be lower in patients... | BeFree | 25535886 | Detail |
| 0.013 | bipolar disorder | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | DisGeNET | Detail |
| Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | 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 |
| Expression of circadian rhythm genes CLOCK, BMAL1, and PER1 in buccal epithelial cells of patients w... | 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 |
| Methods used include the in situ expression of the clock genes Brain and muscle aryl hydrocarbon rec... | DisGeNET | Detail |
| Epigenetic silencing of ARNTL, a circadian gene and potential tumor suppressor in ovarian cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Depression-associated ARNTL and PER2 genetic variants in psychotic disorders. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings suggest that (i) three tic factors can be discerned with a distinct underlying geneti... | DisGeNET | Detail |
| The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing To... | DisGeNET | Detail |
| These findings suggest that (i) three tic factors can be discerned with a distinct underlying geneti... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, inactivation of Ube3a expression elevates BMAL1 levels in brain regions that control circa... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| These findings suggest that (i) three tic factors can be discerned with a distinct underlying geneti... | 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 |
| Epigenetic silencing of ARNTL, a circadian gene and potential tumor suppressor in ovarian cancer. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... | DisGeNET | Detail |
| In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Aβ-induced degradation of BMAL1 and CBP leads to circadian rhythm disruption in Alzheimer's disease. | DisGeNET | Detail |
| Methods used include the in situ expression of the clock genes Brain and muscle aryl hydrocarbon rec... | DisGeNET | Detail |
| The amplitude of BMAL1-luciferase bioluminescence tended to be lower in patients with RA than in non... | 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
- rs131113549 dbSNP
- Genome
- hg19
- Position
- chr11:13,299,325-13,408,813
- Variant Type
- snv
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