chr11:58476230:> Detail (hg19)

Information

Genome

Assembly Position
hg19 chr11:58,476,230-58,499,447
hg38 chr11:58,708,757-58,731,974 

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
<0.001 Malignant tumor of cervix NA BeFree Detail
<0.001 cholesterol ester storage disease NA BeFree Detail
<0.001 choriocarcinoma NA BeFree Detail
<0.001 Congenital chromosomal disease This study was conducted to determine the association between arsenic exposure a... BeFree 25395496 Detail
<0.001 Cockayne syndrome NA BeFree Detail
<0.001 colorectal carcinoma NA BeFree Detail
<0.001 cutis laxa NA BeFree Detail
<0.001 Dental Plaque NA BeFree Detail
<0.001 Dermatitis, Atopic NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
<0.001 Diabetic Nephropathy NA BeFree Detail
<0.001 Eczema NA BeFree Detail
<0.001 fragile X syndrome NA BeFree Detail
<0.001 Glioma NA BeFree Detail
<0.001 Sensorineural Hearing Loss (disorder) Furthermore, the AGT and GAC haplotypes were associated with a significantly hig... BeFree 26051414 Detail
<0.001 cardiac arrest NA BeFree Detail
<0.001 hepatitis B NA BeFree Detail
<0.001 Hepatolenticular Degeneration Variability within the CAT gene may be an important modifier of the clinical cou... BeFree 24517502 Detail
<0.001 Herpes Simplex Infections NA BeFree Detail
0.006 HIV Infections NA BeFree Detail
<0.001 male infertility Human catalase gene polymorphism (CAT C-262T) and risk of male infertility. BeFree 24456074 Detail
<0.001 influenza NA BeFree Detail
<0.001 insulinoma NA BeFree Detail
<0.001 kernicterus NA BeFree Detail
<0.001 leiomyosarcoma NA BeFree Detail
<0.001 leukemia NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
<0.001 Leukoencephalopathy, Progressive Multifocal NA BeFree Detail
0.004 Liver neoplasms NA BeFree Detail
<0.001 Chronic Obstructive Airway Disease NA BeFree Detail
<0.001 Lupus Erythematosus, Systemic NA BeFree Detail
<0.001 lymphoma NA BeFree Detail
<0.001 Lymphoma, Non-Hodgkin For the TYMS gene, haplotype CAT at TYMS (OR 0.67, 95% CI 0.49-0.90, P = 0.007) ... BeFree 25384508 Detail
<0.001 malaria NA BeFree Detail
<0.001 Malaria, Cerebral NA BeFree Detail
<0.001 Malignant neoplasm of stomach NA BeFree Detail
<0.001 measles NA BeFree Detail
<0.001 melanoma NA BeFree Detail
<0.001 Mental Retardation NA BeFree Detail
<0.001 Monosomy NA BeFree Detail
<0.001 Neoplasm Metastasis NA BeFree Detail
<0.001 nephroblastoma NA BeFree Detail
0.001 neuroblastoma NA BeFree Detail
<0.001 Degenerative polyarthritis NA BeFree Detail
<0.001 osteosarcoma NA BeFree Detail
<0.001 ovarian carcinoma NA BeFree Detail
<0.001 pheochromocytoma NA BeFree Detail
<0.001 Pituitary Diseases NA BeFree Detail
<0.001 Pituitary Neoplasms NA BeFree Detail
<0.001 plasmacytoma NA BeFree Detail
<0.001 polycythemia NA BeFree Detail
<0.001 Prostatic Diseases NA BeFree Detail
<0.001 hereditary spherocytosis NA BeFree Detail
<0.001 Superinfection NA BeFree Detail
0.001 thalassemia Analysis of the remaining case identified a novel δ-Hb variant namely the Hb A2-... BeFree 25218786 Detail
0.001 thalassemia Of these 2637 cases, 705 (26.7%) carried β(+)-thalassemia with eight different m... BeFree 25471338 Detail
<0.001 Vascular Diseases NA BeFree Detail
<0.001 vitiligo NA BeFree Detail
<0.001 xeroderma pigmentosum NA BeFree Detail
<0.001 Hallopeau-Siemens Disease NA BeFree Detail
<0.001 eosinophilia-myalgia syndrome NA BeFree Detail
<0.001 Ataxia, Spinocerebellar NA BeFree Detail
<0.001 Small cell carcinoma of lung NA BeFree Detail
<0.001 Aortic Aneurysm, Thoracic NA BeFree Detail
<0.001 Agenesis of corpus callosum NA BeFree Detail
0.001 hepatoblastoma NA BeFree Detail
<0.001 embryonal carcinoma NA BeFree Detail
<0.001 Neuroectodermal Tumor, Primitive NA BeFree Detail
<0.001 teratocarcinoma NA BeFree Detail
<0.001 Follicular thyroid carcinoma NA BeFree Detail
<0.001 Extrapyramidal sign NA BeFree Detail
<0.001 Neurologic Symptoms Patients homozygous for the CAT rs1001179 T allele characterized with later onse... BeFree 24517502 Detail
<0.001 Cerebral atrophy NA BeFree Detail
0.001 pancreatic carcinoma NA BeFree Detail
<0.001 Anaplastic thyroid carcinoma NA BeFree Detail
<0.001 Medullary carcinoma of thyroid NA BeFree Detail
<0.001 Papillary thyroid carcinoma NA BeFree Detail
<0.001 Malignant neoplasm of lung NA BeFree Detail
<0.001 Chronic Periodontitis NA BeFree Detail
<0.001 Tyrosinemias NA BeFree Detail
<0.001 HHH syndrome NA BeFree Detail
<0.001 Spastic syndrome NA BeFree Detail
<0.001 beta^0^ Thalassemia NA BeFree Detail
<0.001 Severe hereditary factor VIII deficiency disease NA BeFree Detail
<0.001 extraosseous Ewings sarcoma-primitive neuroepithelial tumor NA BeFree Detail
<0.001 cervix carcinoma NA BeFree Detail
<0.001 3 beta-Hydroxysteroid dehydrogenase deficiency NA BeFree Detail
<0.001 MRSA - Methicillin resistant Staphylococcus aureus infection NA BeFree Detail
<0.001 Angiosarcoma of liver NA BeFree Detail
<0.001 Malignant neoplasm of pancreas NA BeFree Detail
<0.001 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site NA BeFree Detail
0.001 Malignant neoplasm of prostate This study of advanced prostate cancer risk showed a marginal association with a... BeFree 25315963 Detail
<0.001 endometrial carcinoma NA BeFree Detail
<0.001 Overweight NA BeFree Detail
<0.001 Metabolic syndrome X NA BeFree Detail
<0.001 Thyroid carcinoma NA BeFree Detail
<0.001 pseudohermaphrodite (non-specific) NA BeFree Detail
<0.001 lymphoma Data from two population-based, case-control studies of lymphoma in the UK (700 ... BeFree 16956821 Detail
<0.001 Osteosarcoma of bone NA BeFree Detail
<0.001 Carcinogenesis NA BeFree Detail
0.001 prostate carcinoma This study of advanced prostate cancer risk showed a marginal association with a... BeFree 25315963 Detail
0.004 breast carcinoma NA BeFree Detail
<0.001 Carcinoma of lung NA BeFree Detail
<0.001 Ewings sarcoma-primitive neuroectodermal tumor (PNET) NA BeFree Detail
<0.001 colon carcinoma NA BeFree Detail
<0.001 stomach carcinoma NA BeFree Detail
0.001 Central neuroblastoma NA BeFree Detail
0.001 spinocerebellar ataxia type 1 NA BeFree Detail
<0.001 latent infection NA BeFree Detail
<0.001 ovarian neoplasm NA BeFree Detail
<0.001 Malignant neoplasm of ovary NA BeFree Detail
<0.001 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Ductal Carcinoma NA BeFree Detail
<0.001 diffuse scleroderma NA BeFree Detail
<0.001 Hereditary Nonpolyposis Colorectal Cancer NA BeFree Detail
0.001 Mammary Neoplasms NA BeFree Detail
<0.001 colorectal cancer NA BeFree Detail
<0.001 Ductal Breast Carcinoma NA BeFree Detail
<0.001 Erythrocytosis NA BeFree Detail
<0.001 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) NA BeFree Detail
<0.001 Amyotrophic Lateral Sclerosis, Sporadic NA BeFree Detail
<0.001 coronary artery disease NA BeFree Detail
0.005 liver carcinoma In accordance, haplotypic analysis of the three polymorphisms also showed that t... BeFree 24867713 Detail
<0.001 SPHEROCYTOSIS, TYPE 1 (disorder) NA BeFree Detail
0.001 adenocarcinoma NA BeFree Detail
<0.001 adenoma NA BeFree Detail
<0.001 Alcoholic Intoxication, Chronic Our findings suggest that the CAT c.-262C>T genetic polymorphism influences the ... BeFree 25514903 Detail
<0.001 amyotrophic lateral sclerosis NA BeFree Detail
<0.001 Refractory anaemia with excess blasts NA BeFree Detail
<0.001 Anxiety Disorders Our findings suggest that the CAT c.-262C>T genetic polymorphism influences the ... BeFree 25514903 Detail
0.001 asthma NA BeFree Detail
<0.001 Barrett esophagus BOB CAT: A Large-Scale Review and Delphi Consensus for Management of Barrett's E... BeFree 25869390 Detail
<0.001 bipolar disorder NA BeFree Detail
0.004 Malignant neoplasm of breast NA BeFree Detail
<0.001 Malignant tumor of colon NA BeFree Detail
<0.001 Malignant neoplasm of thyroid NA BeFree Detail
<0.001 mucinous adenocarcinoma NA BeFree Detail
<0.001 Non-small cell lung carcinoma NA BeFree Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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This study was conducted to determine the association between arsenic exposure and polymorphisms of ... DisGeNET Detail
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Furthermore, the AGT and GAC haplotypes were associated with a significantly higher prevalence of SS... DisGeNET Detail
NA DisGeNET Detail
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Variability within the CAT gene may be an important modifier of the clinical course of WD. DisGeNET Detail
NA DisGeNET Detail
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Human catalase gene polymorphism (CAT C-262T) and risk of male infertility. DisGeNET Detail
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For the TYMS gene, haplotype CAT at TYMS (OR 0.67, 95% CI 0.49-0.90, P = 0.007) was associated with ... DisGeNET Detail
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Analysis of the remaining case identified a novel δ-Hb variant namely the Hb A2-Lampang [δ47(CD6)GAT... DisGeNET Detail
Of these 2637 cases, 705 (26.7%) carried β(+)-thalassemia with eight different mutations including 6... DisGeNET Detail
NA DisGeNET Detail
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Patients homozygous for the CAT rs1001179 T allele characterized with later onset of WD [median (int... DisGeNET Detail
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This study of advanced prostate cancer risk showed a marginal association with a CAT polymorphism an... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Data from two population-based, case-control studies of lymphoma in the UK (700 cases and 915 contro... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
This study of advanced prostate cancer risk showed a marginal association with a CAT polymorphism an... DisGeNET Detail
NA DisGeNET Detail
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In accordance, haplotypic analysis of the three polymorphisms also showed that the haplotype block C... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings suggest that the CAT c.-262C>T genetic polymorphism influences the susceptibility to al... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Our findings suggest that the CAT c.-262C>T genetic polymorphism influences the susceptibility to al... DisGeNET Detail
NA DisGeNET Detail
BOB CAT: A Large-Scale Review and Delphi Consensus for Management of Barrett's Esophagus With No Dys... DisGeNET Detail
NA DisGeNET Detail
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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
rs386596107 dbSNP
Genome
hg19
Position
chr11:58,476,230-58,499,447
Variant Type
snv
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