chr4:56294070:> Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:56,294,070-56,413,076 |
hg38 | chr4:55,427,903-55,546,909 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
0.003 | Cardiovascular Diseases | The role of clock genes and circadian rhythm in the development of cardiovascula... | BeFree,LHGDN | 25972277 | Detail |
0.080 | cholestasis | NA | RGD | Detail | |
<0.001 | Cluster Headache | NA | BeFree | Detail | |
0.002 | cocaine abuse | NA | GAD | Detail | |
0.004 | colorectal carcinoma | Clock genes: their role in colorectal cancer. | BeFree | 24587674 | Detail |
0.004 | colorectal carcinoma | Core clock genes might be possible future biomarkers in colorectal cancer. | BeFree | 25418520 | Detail |
0.004 | Mental Depression | NA | BeFree,GAD | Detail | |
0.002 | depressive disorder | NA | BeFree | Detail | |
0.001 | Diabetes | Clock genes, pancreatic function, and diabetes. | BeFree | 25457619 | Detail |
0.001 | diabetes mellitus | Clock genes, pancreatic function, and diabetes. | BeFree | 25457619 | Detail |
0.001 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree | Detail | |
<0.001 | Eating Disorders | NA | BeFree | Detail | |
0.003 | endometriosis | NA | BeFree,GAD | Detail | |
0.005 | Fatty Liver | NA | GAD,LHGDN | Detail | |
<0.001 | glioblastoma | NA | BeFree | Detail | |
0.002 | Glioma | However, the molecular mechanisms of genes controlling circadian rhythm in gliom... | BeFree | 25313752 | Detail |
<0.001 | Hay fever | This study showed that allergen-induced surface CD203c expression on basophils i... | BeFree | 25443426 | Detail |
<0.001 | Sensorineural Hearing Loss (disorder) | The expression of circadian clock genes in peripheral blood (PB) leukocytes from... | BeFree | 26131842 | Detail |
<0.001 | hepatitis C | NA | BeFree | Detail | |
<0.001 | heroin dependence | NA | BeFree | Detail | |
0.081 | Hypertensive disease | Clock genes in hypertension: novel insights from rodent models. | BeFree,RGD | 25025868 | Detail |
0.081 | Hypertensive disease | Expression of circadian rhythm genes CLOCK, BMAL1, and PER1 in buccal epithelial... | BeFree,RGD | 25070164 | Detail |
<0.001 | male infertility | NA | BeFree | Detail | |
<0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
<0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
<0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
<0.001 | Liver neoplasms | Taken together, our data show that an lncRNA, HULC, is responsible for the pertu... | BeFree | 25622901 | Detail |
<0.001 | lymphoma | NA | BeFree | Detail | |
<0.001 | Single major depressive episode | NA | BeFree | Detail | |
<0.001 | melanoma | NA | BeFree | Detail | |
<0.001 | Metabolic Diseases | NA | BeFree | Detail | |
<0.001 | Neoplasm Metastasis | Pairwise correlations between functionally-related clock genes (e.g., PER2-PER3 ... | BeFree | 25485508 | Detail |
<0.001 | neuroblastoma | NA | BeFree | Detail | |
<0.001 | Nevus | NA | BeFree | Detail | |
<0.001 | Melanocytic nevus | NA | BeFree | Detail | |
0.012 | obesity | To evaluate the association between 3111T/C polymorphism of the CLOCK gene and t... | BeFree,GAD | 24818524 | Detail |
<0.001 | oligodendroglioma | NA | BeFree | Detail | |
<0.001 | Degenerative polyarthritis | Clock gene expression in different synovial cells of patients with rheumatoid ar... | BeFree | 25109449 | Detail |
<0.001 | Pituitary Diseases | NA | BeFree | Detail | |
<0.001 | Pneumococcal Infections | NA | BeFree | Detail | |
<0.001 | Q fever | NA | BeFree | Detail | |
<0.001 | restless legs syndrome | Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphism... | BeFree | 24824748 | Detail |
0.015 | schizophrenia | Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphism... | BeFree,GAD,LHGDN | 24824748 | Detail |
0.015 | schizophrenia | Since stressful life events or increased vulnerability to stress are risk factor... | BeFree,GAD,LHGDN | 25135782 | Detail |
<0.001 | Skin Neoplasms | NA | BeFree | Detail | |
0.003 | Sleep disturbances | Screening of clock gene polymorphisms demonstrates association of a PER3 polymor... | BeFree | 25201053 | Detail |
<0.001 | post-traumatic stress disorder | Since stressful life events or increased vulnerability to stress are risk factor... | BeFree | 25135782 | Detail |
0.002 | Thinness | NA | GAD | Detail | |
0.003 | Unipolar Depression | Circadian dysregulation of clock genes: clues to rapid treatments in major depre... | BeFree | 25349171 | Detail |
0.002 | Weight Gain | NA | GAD | Detail | |
<0.001 | seasonal affective disorder | NA | BeFree | Detail | |
<0.001 | gestational diabetes | NA | BeFree | Detail | |
<0.001 | Photophobia | NA | BeFree | Detail | |
<0.001 | Depressive Symptoms | NA | BeFree | Detail | |
<0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
<0.001 | esophageal carcinoma | NA | BeFree | Detail | |
<0.001 | adrenoleukodystrophy | Taken together our data support a novel Cyp2e1-circadian clock protein mechanism... | BeFree | 25462064 | Detail |
<0.001 | Tumor Progression | Loss of circadian clock gene expression is associated with tumor progression in ... | BeFree | 25485508 | Detail |
<0.001 | Jet Lag Syndrome | NA | BeFree | Detail | |
<0.001 | Premature aging syndrome | NA | BeFree | Detail | |
<0.001 | Dyslipidemias | NA | BeFree | Detail | |
<0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
<0.001 | anaplastic oligodendroglioma | NA | BeFree | Detail | |
<0.001 | Impaired cognition | NA | BeFree | Detail | |
<0.001 | Manic | NA | BeFree | Detail | |
0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
<0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
0.001 | delayed sleep phase syndrome | NA | BeFree | Detail | |
0.002 | Anorexia and bulimia syndrome | NA | GAD | Detail | |
0.003 | Overweight | Study of the association between 3111T/C polymorphism of the CLOCK gene and the ... | BeFree,GAD | 24818524 | Detail |
<0.001 | Sleep Apnea, Obstructive | NA | BeFree | Detail | |
0.012 | Metabolic syndrome X | The circadian clock affects metabolic cycles, and there is a link between circad... | BeFree,GAD | 25391456 | Detail |
0.005 | Mood Disorders | NA | BeFree,GAD | Detail | |
<0.001 | Early Awakening | NA | BeFree | Detail | |
0.003 | Malignant neoplasm of esophagus | NA | BeFree,GAD | Detail | |
0.003 | Carcinogenesis | Dysfunction of molecular clockworks and cellular oscillators is involved in tumo... | BeFree | 24764658 | Detail |
<0.001 | prostate carcinoma | NA | BeFree | Detail | |
0.003 | breast carcinoma | In conclusion, the results of our population-based case-control study support a ... | BeFree | 25229211 | Detail |
0.003 | breast carcinoma | Loss of circadian clock gene expression is associated with tumor progression in ... | BeFree | 25485508 | Detail |
<0.001 | colon carcinoma | NA | BeFree | Detail | |
<0.001 | Central neuroblastoma | NA | BeFree | Detail | |
<0.001 | Malignant neoplasm of kidney | NA | BeFree | Detail | |
<0.001 | Well Differentiated Oligodendroglioma | NA | BeFree | Detail | |
<0.001 | Hypersomnolence, Idiopathic | NA | BeFree | Detail | |
<0.001 | advanced sleep phase syndrome | NA | BeFree | Detail | |
0.080 | Hypoxia-Ischemia, Brain | NA | RGD | Detail | |
<0.001 | Smith-Magenis syndrome | NA | BeFree | Detail | |
<0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
<0.001 | Circadian Rhythm Disorders | These findings suggest that in addition to structural abnormalities, lesion stud... | BeFree | 25349171 | Detail |
0.015 | Sleep Disorders | Screening of clock gene polymorphisms demonstrates association of a PER3 polymor... | BeFree,GAD | 25201053 | Detail |
<0.001 | Advanced sleep phase | Polymorphisms in circadian clock genes have been associated with morningness-eve... | BeFree | 25201053 | Detail |
<0.001 | Delayed sleep phase | Polymorphisms in circadian clock genes have been associated with morningness-eve... | BeFree | 25201053 | Detail |
<0.001 | Adult attention deficit hyperactivity disorder | NA | BeFree | Detail | |
<0.001 | winter depression | NA | BeFree | Detail | |
0.004 | Sleeplessness | The expression of circadian clock genes in peripheral blood (PB) leukocytes from... | BeFree,GAD | 26131842 | Detail |
0.003 | Malignant neoplasm of breast | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
<0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
<0.001 | attention deficit hyperactivity disorder | NA | BeFree | Detail | |
0.007 | major depressive disorder | Circadian dysregulation of clock genes: clues to rapid treatments in major depre... | BeFree,GAD | 25349171 | Detail |
<0.001 | Mild cognitive disorder | NA | BeFree | Detail | |
<0.001 | Adenoma of large intestine | Case-control study of the PERIOD3 clock gene length polymorphism and colorectal ... | BeFree | 25501848 | Detail |
0.003 | breast carcinoma | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
<0.001 | Postoperative confusion | In this thesis we initially investigated whether the specific clock gene genotyp... | BeFree | 25186550 | Detail |
<0.001 | renal carcinoma | NA | BeFree | Detail | |
<0.001 | Benign melanocytic nevus | NA | BeFree | Detail | |
<0.001 | Mammary Neoplasms | NA | BeFree | Detail | |
<0.001 | Hepatocarcinogenesis | Taken together, our data show that an lncRNA, HULC, is responsible for the pertu... | BeFree | 25622901 | Detail |
0.003 | colorectal cancer | Clock genes: their role in colorectal cancer. | BeFree | 24587674 | Detail |
0.003 | colorectal cancer | Core clock genes might be possible future biomarkers in colorectal cancer. | BeFree | 25418520 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 2 | NA | BeFree | Detail | |
<0.001 | NEUROTICISM | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 1 | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 4 | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 5 | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 6 | NA | BeFree | Detail | |
<0.001 | liver carcinoma | Taken together, our data show that an lncRNA, HULC, is responsible for the pertu... | BeFree | 25622901 | Detail |
0.003 | bulimia nervosa | NA | BeFree,LHGDN | Detail | |
<0.001 | Major affective disorder 7 | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 8 | NA | BeFree | Detail | |
<0.001 | MAJOR AFFECTIVE DISORDER 9 | NA | BeFree | Detail | |
0.002 | Weight Gain Adverse Event | NA | GAD | Detail | |
<0.001 | High-functioning autism | NA | BeFree | Detail | |
0.003 | Sleep Wake Disorders | NA | LHGDN | Detail | |
<0.001 | alcohol use disorder | NA | BeFree | Detail | |
0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
0.001 | Alzheimer's disease | We compared development of AD-like symptoms in adult flies expressing Aβ peptide... | BeFree | 25171136 | Detail |
0.003 | anorexia nervosa | NA | BeFree,LHGDN | Detail | |
0.001 | Anxiety Disorders | NA | BeFree | Detail | |
<0.001 | arteriosclerosis | NA | BeFree | Detail | |
0.002 | rheumatoid arthritis | Clock gene expression in different synovial cells of patients with rheumatoid ar... | BeFree | 25109449 | Detail |
0.002 | rheumatoid arthritis | The circadian rhythm in expression of the clock genes PER2 and PER3 in CD14+ mon... | BeFree | 25535886 | Detail |
0.002 | As If Personality | NA | GAD | Detail | |
<0.001 | asthma | NA | BeFree | Detail | |
<0.001 | atherosclerosis | NA | BeFree | Detail | |
<0.001 | autistic disorder | NA | BeFree | Detail | |
<0.001 | Autoimmune Diseases | NA | BeFree | Detail | |
0.002 | Mental disorders | Animal models with mutations in circadian clock genes commonly show disturbances... | BeFree | 25135782 | Detail |
0.021 | bipolar disorder | Suicidal behavior in the context of disrupted rhythmicity in bipolar disorder--d... | BeFree,GAD,LHGDN | 25724486 | Detail |
<0.001 | Depression, Bipolar | NA | BeFree | Detail | |
<0.001 | borderline personality disorder | NA | BeFree | Detail | |
<0.001 | Brain Diseases | NA | BeFree | Detail | |
0.003 | Malignant neoplasm of breast | In conclusion, the results of our population-based case-control study support a ... | BeFree | 25229211 | Detail |
0.003 | Malignant neoplasm of breast | Loss of circadian clock gene expression is associated with tumor progression in ... | BeFree | 25485508 | Detail |
<0.001 | bronchopulmonary dysplasia | NA | BeFree | Detail | |
<0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NA | DisGeNET | Detail |
The role of clock genes and circadian rhythm in the development of cardiovascular diseases. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clock genes: their role in colorectal cancer. | DisGeNET | Detail |
Core clock genes might be possible future biomarkers in colorectal cancer. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clock genes, pancreatic function, and diabetes. | DisGeNET | Detail |
Clock genes, pancreatic function, and diabetes. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
However, the molecular mechanisms of genes controlling circadian rhythm in glioma cells have not bee... | DisGeNET | Detail |
This study showed that allergen-induced surface CD203c expression on basophils in seasonal allergic ... | DisGeNET | Detail |
The expression of circadian clock genes in peripheral blood (PB) leukocytes from 38 patients with SS... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clock genes in hypertension: novel insights from rodent models. | 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 |
Taken together, our data show that an lncRNA, HULC, is responsible for the perturbations in circadia... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Pairwise correlations between functionally-related clock genes (e.g., PER2-PER3 and CRY2-PER3) were ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
To evaluate the association between 3111T/C polymorphism of the CLOCK gene and the presence of obesi... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clock gene expression in different synovial cells of patients with rheumatoid arthritis and osteoart... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphisms in schizophrenia. | DisGeNET | Detail |
Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphisms in schizophrenia. | DisGeNET | Detail |
Since stressful life events or increased vulnerability to stress are risk factors for multiple psych... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningne... | DisGeNET | Detail |
Since stressful life events or increased vulnerability to stress are risk factors for multiple psych... | DisGeNET | Detail |
NA | DisGeNET | Detail |
Circadian dysregulation of clock genes: clues to rapid treatments in major depressive disorder. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Taken together our data support a novel Cyp2e1-circadian clock protein mechanism for alcohol-induced... | DisGeNET | Detail |
Loss of circadian clock gene expression is associated with tumor progression in breast cancer. | 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 |
Study of the association between 3111T/C polymorphism of the CLOCK gene and the presence of overweig... | DisGeNET | Detail |
NA | DisGeNET | Detail |
The circadian clock affects metabolic cycles, and there is a link between circadian clock genes and ... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Dysfunction of molecular clockworks and cellular oscillators is involved in tumorigenesis, and alter... | DisGeNET | Detail |
NA | DisGeNET | Detail |
In conclusion, the results of our population-based case-control study support a putative role of the... | DisGeNET | Detail |
Loss of circadian clock gene expression is associated with tumor progression in breast cancer. | 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 |
These findings suggest that in addition to structural abnormalities, lesion studies, and the large b... | DisGeNET | Detail |
Screening of clock gene polymorphisms demonstrates association of a PER3 polymorphism with morningne... | DisGeNET | Detail |
Polymorphisms in circadian clock genes have been associated with morningness-eveningness (diurnal) p... | DisGeNET | Detail |
Polymorphisms in circadian clock genes have been associated with morningness-eveningness (diurnal) p... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
The expression of circadian clock genes in peripheral blood (PB) leukocytes from 38 patients with SS... | 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 |
Circadian dysregulation of clock genes: clues to rapid treatments in major depressive disorder. | DisGeNET | Detail |
NA | DisGeNET | Detail |
Case-control study of the PERIOD3 clock gene length polymorphism and colorectal adenoma formation. | DisGeNET | Detail |
In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... | DisGeNET | Detail |
In this thesis we initially investigated whether the specific clock gene genotype PER(5/5) was assoc... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Taken together, our data show that an lncRNA, HULC, is responsible for the perturbations in circadia... | DisGeNET | Detail |
Clock genes: their role in colorectal cancer. | DisGeNET | Detail |
Core clock genes might be possible future biomarkers in colorectal cancer. | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Taken together, our data show that an lncRNA, HULC, is responsible for the perturbations in circadia... | 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 compared development of AD-like symptoms in adult flies expressing Aβ peptides in the wild type b... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Clock gene expression in different synovial cells of patients with rheumatoid arthritis and osteoart... | DisGeNET | Detail |
The circadian rhythm in expression of the clock genes PER2 and PER3 in CD14+ monocytes was lost in p... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
Animal models with mutations in circadian clock genes commonly show disturbances in reward processin... | DisGeNET | Detail |
Suicidal behavior in the context of disrupted rhythmicity in bipolar disorder--data from an associat... | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
NA | DisGeNET | Detail |
In conclusion, the results of our population-based case-control study support a putative role of the... | DisGeNET | Detail |
Loss of circadian clock gene expression is associated with tumor progression in breast cancer. | 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
- chr4:56,294,070-56,413,076
- Variant Type
- snv
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