chr21:43053191:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:44,473,301-44,496,488 |
| hg38 | chr21:43,053,191-43,076,378 |
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 |
|---|---|---|---|---|---|
| 0.127 | Cardiovascular Diseases | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.003 | intracranial aneurysm | NA | BeFree,GAD | Detail | |
| <0.001 | cerebral infarction | NA | BeFree | Detail | |
| 0.005 | brain ischemia | NA | GAD | Detail | |
| 0.005 | cerebral palsy | NA | GAD | Detail | |
| 0.002 | Cerebrovascular Disorders | NA | GAD | Detail | |
| 0.005 | cleft lip | NA | GAD | Detail | |
| 0.005 | cleft palate | NA | GAD | Detail | |
| <0.001 | Cognition Disorders | Polymorphisms of genes involved in B vitamin absorption, metabolism and function... | BeFree | 25173634 | Detail |
| <0.001 | colorectal carcinoma | Effect of S-adenosyl-L-methionine (SAM), an allosteric activator of cystathionin... | BeFree | 24667534 | Detail |
| 0.002 | Colorectal Neoplasms | NA | GAD | Detail | |
| 0.003 | Connective Tissue Diseases | NA | BeFree,GAD | Detail | |
| 0.006 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.008 | Coronary heart disease | NA | BeFree,GAD | Detail | |
| 0.003 | Demyelinating Diseases | NA | LHGDN | Detail | |
| <0.001 | Mental Depression | We observed a significant reduction in sulphide concentrations and downregulated... | BeFree | 25070356 | Detail |
| <0.001 | depressive disorder | We observed a significant reduction in sulphide concentrations and downregulated... | BeFree | 25070356 | Detail |
| <0.001 | dermatitis | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.122 | Diabetes Mellitus, Non-Insulin-Dependent | NA | CTD_human,GAD | Detail | |
| 0.024 | Down syndrome | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Edema | NA | GAD | Detail | |
| <0.001 | Fatty Liver | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| <0.001 | Folic Acid Deficiency | NA | BeFree | Detail | |
| 0.010 | congenital heart defects | NA | BeFree,GAD | Detail | |
| 0.003 | Heart Diseases | NA | LHGDN | Detail | |
| 0.002 | Heart Septal Defects | NA | GAD | Detail | |
| 0.156 | homocystinuria | Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocyst... | BeFree,CTD_human,GAD,LHGDN | 24891521 | Detail |
| 0.003 | Huntington disease | NA | BeFree,GAD | Detail | |
| 0.122 | Hypertensive disease | NA | CTD_human,GAD | Detail | |
| <0.001 | Immunologic Deficiency Syndromes | NA | BeFree | Detail | |
| 0.007 | Inflammation | NA | GAD | Detail | |
| <0.001 | Inflammatory Bowel Diseases | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| 0.003 | Acute Megakaryocytic Leukemias | NA | BeFree,LHGDN | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.003 | liver cirrhosis | NA | BeFree,GAD | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.005 | Lung Neoplasms | NA | BeFree,GAD,LHGDN | Detail | |
| 0.002 | Lupus Erythematosus, Systemic | NA | GAD | Detail | |
| 0.002 | lymphoma | NA | GAD | Detail | |
| 0.002 | Lymphoma, Follicular | NA | GAD | Detail | |
| 0.128 | Lymphoma, Non-Hodgkin | Our study suggests that variation in several OCM genes (CBS, FTHFD, SHMT1, TCN1,... | BeFree,CTD_human,GAD | 25384508 | Detail |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.005 | meningioma | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Meningomyelocele | NA | BeFree | Detail | |
| 0.008 | Mental Retardation | NA | BeFree,GAD | Detail | |
| 0.004 | Inborn errors of metabolism | NA | BeFree,LHGDN | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| 0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
| <0.001 | Mycoses | NA | BeFree | Detail | |
| 0.010 | myocardial infarction | NA | BeFree,GAD | Detail | |
| 0.007 | Neural Tube Defects | NA | GAD | Detail | |
| 0.003 | obesity | NA | BeFree,GAD | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.002 | Parkinson disease | NA | GAD | Detail | |
| <0.001 | Adenomatous Polyposis Coli | NA | BeFree | Detail | |
| <0.001 | Preexcitation Syndrome | NA | BeFree | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| 0.002 | Prostatic Neoplasms | NA | GAD | Detail | |
| <0.001 | pyruvate carboxylase deficiency disease | NA | BeFree | Detail | |
| <0.001 | Renal Artery Stenosis | NA | BeFree | Detail | |
| <0.001 | kidney failure | NA | BeFree | Detail | |
| 0.024 | Down syndrome | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), ... | BeFree | 15889417 | Detail |
| 0.003 | schizophrenia | NA | BeFree,GAD | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Sinus Thrombosis, Intracranial | NA | BeFree | Detail | |
| 0.002 | Dermatologic disorders | NA | GAD | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| 0.006 | Cerebrovascular accident | Therefore, CBS inhibition may be a viable approach to stroke treatment. | BeFree,GAD | 25873304 | Detail |
| <0.001 | Subarachnoid Hemorrhage | NA | BeFree | Detail | |
| 0.002 | Thromboembolism | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.002 | Vascular Diseases | NA | BeFree | Detail | |
| 0.005 | Venous Thrombosis | NA | GAD | Detail | |
| 0.002 | B-Cell Lymphomas | NA | GAD | Detail | |
| 0.002 | diffuse large B-cell lymphoma | NA | GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| 0.002 | T-Cell Lymphoma | NA | GAD | Detail | |
| 0.012 | spina bifida | NA | BeFree,GAD | Detail | |
| 0.002 | Central Nervous System Neoplasms | NA | GAD | Detail | |
| 0.003 | Deep Vein Thrombosis | NA | BeFree,GAD | Detail | |
| 0.009 | Premature Birth | NA | GAD | Detail | |
| 0.003 | Thrombosis of cerebral veins | NA | BeFree,GAD | Detail | |
| 0.003 | adrenoleukodystrophy | NA | BeFree,LHGDN | Detail | |
| 0.123 | Malnutrition | NA | BeFree,CTD_human,GAD | Detail | |
| 0.002 | Aortic Aneurysm, Abdominal | NA | GAD | Detail | |
| <0.001 | Russell-Silver syndrome | Interestingly, patients with RSS with ICR1 hypomethylation showed uneven profile... | BeFree | 25395389 | Detail |
| 0.002 | coronary stenosis | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| 0.002 | age related macular degeneration | NA | GAD | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of colon stage IV | NA | BeFree | Detail | |
| <0.001 | Cancer of Head and Neck | NA | BeFree | Detail | |
| 0.328 | Cystathionine beta-Synthase Deficiency Disease | Effect of the disease-causing R266K mutation on the heme and PLP environments of... | UNIPROT | 22738154 | Detail |
| 0.002 | Restenosis | NA | GAD | Detail | |
| 0.002 | Vertebral Artery Dissection | NA | GAD | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| 0.003 | thrombophilia | NA | BeFree,GAD | Detail | |
| <0.001 | Neurodegenerative Disorders | A significant reduction in sulphide levels and CBS mRNA expression was observed ... | BeFree | 24874797 | Detail |
| 0.002 | Methotrexate poisoning | NA | GAD | Detail | |
| <0.001 | Factor V Leiden mutation | NA | BeFree | Detail | |
| 0.229 | hyperhomocysteinemia | Mild (22 µmol/L) and moderate (88 µmol/L) HHcy were induced in cystathionine β-s... | BeFree,CTD_human,GAD,LHGDN,RGD | 25352635 | Detail |
| 0.229 | hyperhomocysteinemia | We studied the effect of HHcy on PCs and its role in vascular repair in severe H... | BeFree,CTD_human,GAD,LHGDN,RGD | 25854700 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.002 | Activated Protein C Resistance | NA | GAD | Detail | |
| 0.002 | hepatopulmonary syndrome | NA | GAD | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| 0.002 | Chronic progressive chorea | NA | GAD | Detail | |
| 0.003 | colon carcinoma | The purpose of the current study was to investigate the effect of the allosteric... | BeFree | 24667534 | Detail |
| 0.003 | colon carcinoma | Here, we compare the effectiveness of Ca(2+), vitamin D, and Aquamin (a marine a... | BeFree | 26076051 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.002 | Carotid Artery, Internal, Dissection | NA | GAD | Detail | |
| 0.007 | brain infarction | NA | GAD | Detail | |
| <0.001 | Arteriopathic disease | NA | BeFree | Detail | |
| <0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| 0.024 | Down syndrome | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndro... | BeFree | 23430030 | Detail |
| <0.001 | Cerebral Ischemia | NA | BeFree | Detail | |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Ischemic stroke | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.013 | colorectal cancer | Effect of S-adenosyl-L-methionine (SAM), an allosteric activator of cystathionin... | BeFree,GAD | 24667534 | Detail |
| <0.001 | Renal Insufficiency | NA | BeFree | Detail | |
| <0.001 | Meningioma, benign, no ICD-O subtype | NA | BeFree | Detail | |
| 0.014 | coronary artery disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Steatohepatitis | NA | BeFree | Detail | |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| 0.089 | Homocysteinemia | In this review we highlight the importance of homocysteinemia by describing the ... | BeFree,MGD | 25087163 | Detail |
| 0.089 | Homocysteinemia | Mild (22 µmol/L) and moderate (88 µmol/L) HHcy were induced in cystathionine β-s... | BeFree,MGD | 25352635 | Detail |
| 0.089 | Homocysteinemia | We studied the effect of HHcy on PCs and its role in vascular repair in severe H... | BeFree,MGD | 25854700 | Detail |
| 0.001 | Homocystinuria, pyridoxine-responsive | NA | BeFree | Detail | |
| 0.002 | Infection | NA | GAD | Detail | |
| <0.001 | intellectual disability | We present diagnosis of cystathionine beta-synthase (CBS) deficiency in a multip... | BeFree | 25455305 | Detail |
| 0.005 | Hyperhomocystinemia | NA | GAD | Detail | |
| 0.002 | Congenital Abnormality | NA | GAD | Detail | |
| 0.002 | adenocarcinoma | NA | GAD | Detail | |
| 0.010 | Alzheimer's disease | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Aneurysm, Dissecting | NA | BeFree | Detail | |
| <0.001 | Arterial Occlusive Diseases | NA | BeFree | Detail | |
| 0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.006 | atherosclerosis | NA | BeFree,GAD | Detail | |
| 0.005 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| 0.002 | Brain Neoplasms | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| <0.001 | oral candidiasis | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of colon | The purpose of the current study was to investigate the effect of the allosteric... | BeFree | 24667534 | Detail |
| 0.002 | Non-small cell lung carcinoma | NA | GAD | 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 |
| Polymorphisms of genes involved in B vitamin absorption, metabolism and function, such as methylene ... | DisGeNET | Detail |
| Effect of S-adenosyl-L-methionine (SAM), an allosteric activator of cystathionine-β-synthase (CBS) o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We observed a significant reduction in sulphide concentrations and downregulated expression of cysta... | DisGeNET | Detail |
| We observed a significant reduction in sulphide concentrations and downregulated expression of cysta... | 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 |
| Altered hepatic sulfur metabolism in cystathionine β-synthase-deficient homocystinuria: regulatory r... | 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 |
| Our study suggests that variation in several OCM genes (CBS, FTHFD, SHMT1, TCN1, and TYMS) may influ... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A &... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Therefore, CBS inhibition may be a viable approach to stroke treatment. | 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 |
| Interestingly, patients with RSS with ICR1 hypomethylation showed uneven profiles of methylation amo... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A significant reduction in sulphide levels and CBS mRNA expression was observed in the hippocampus o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mild (22 µmol/L) and moderate (88 µmol/L) HHcy were induced in cystathionine β-synthase wild-type (C... | DisGeNET | Detail |
| We studied the effect of HHcy on PCs and its role in vascular repair in severe HHcy (∼150 μM), which... | 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 |
| The purpose of the current study was to investigate the effect of the allosteric CBS activator S-ade... | DisGeNET | Detail |
| Here, we compare the effectiveness of Ca(2+), vitamin D, and Aquamin (a marine algae product contain... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with m... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Effect of S-adenosyl-L-methionine (SAM), an allosteric activator of cystathionine-β-synthase (CBS) o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this review we highlight the importance of homocysteinemia by describing the genes encoding for e... | DisGeNET | Detail |
| Mild (22 µmol/L) and moderate (88 µmol/L) HHcy were induced in cystathionine β-synthase wild-type (C... | DisGeNET | Detail |
| We studied the effect of HHcy on PCs and its role in vascular repair in severe HHcy (∼150 μM), which... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We present diagnosis of cystathionine beta-synthase (CBS) deficiency in a multiply affected Iranian ... | 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 |
| The purpose of the current study was to investigate the effect of the allosteric CBS activator S-ade... | 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
- rs28934275 dbSNP
- Genome
- hg38
- Position
- chr21:43,053,191-43,076,378
- Variant Type
- snv
Genome browser