chr11:126152392:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:126,152,392-126,166,053 |
| hg38 | chr11:126,282,497-126,296,158 |
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 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | Cervix Diseases | NA | BeFree | Detail | |
| 0.003 | Chagas Cardiomyopathy | NA | BeFree,GAD | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.002 | Cross Infection | NA | GAD | Detail | |
| 0.002 | cystitis | NA | GAD | Detail | |
| <0.001 | Dengue Fever | Functional polymorphisms in RNA recognizing toll like receptors (TLR) 3, 7, 8 an... | BeFree | 25446400 | Detail |
| <0.001 | dental caries | NA | BeFree | Detail | |
| 0.002 | Dermatitis, Atopic | NA | GAD | Detail | |
| <0.001 | Down syndrome | NA | BeFree | Detail | |
| <0.001 | Esophageal Neoplasms | NA | BeFree | Detail | |
| <0.001 | heavy chain disease | NA | BeFree | Detail | |
| <0.001 | Severe Dengue | The results suggest that TLR3 and TIRAP gene variants influence the risk for DHF... | BeFree | 25446400 | Detail |
| 0.004 | HIV Infections | Exosome release induced by HIV-1 Nef was also dependent on MAL expression. | BeFree,GAD | 26109641 | Detail |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| 0.003 | Inflammatory Bowel Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | Keloid | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.001 | Acute Megakaryocytic Leukemias | Megakaryoblastic leukemia 1 (MKL1), also known as MAL or myocardin-related trans... | BeFree | 26224645 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | Lung Neoplasms | Re-expression of MAL and OLIG2 to physiological levels dramatically reduced the ... | BeFree | 24469050 | Detail |
| 0.005 | Lupus Erythematosus, Systemic | NA | GAD,LHGDN | Detail | |
| 0.121 | malaria | NA | BeFree,CTD_human | Detail | |
| 0.002 | Malaria, Falciparum | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of stomach | Novel polymorphisms in TLR2, TLR4, MD-2, LBP, CD14 and TIRAP, genes encoding imp... | BeFree | 24929142 | Detail |
| <0.001 | obesity | NA | BeFree | Detail | |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.120 | Pneumococcal Infections | NA | CTD_human | Detail | |
| <0.001 | pneumonia | NA | BeFree | Detail | |
| 0.120 | Prostatic Neoplasms | NA | CTD_human | Detail | |
| 0.002 | pyelonephritis | NA | GAD | Detail | |
| 0.002 | Respiratory Distress Syndrome, Adult | NA | GAD | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Trisomy | NA | BeFree | Detail | |
| <0.001 | Chagas disease | NA | BeFree | Detail | |
| 0.136 | tuberculosis | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| 0.003 | Tuberculosis, Meningeal | NA | BeFree,GAD | Detail | |
| 0.002 | urinary tract infection | NA | GAD | Detail | |
| <0.001 | Virus Diseases | Functional polymorphisms in RNA recognizing toll like receptors (TLR) 3, 7, 8 an... | BeFree | 25446400 | Detail |
| <0.001 | esophageal carcinoma | NA | BeFree | Detail | |
| <0.001 | pelvic inflammatory disease | NA | BeFree | Detail | |
| 0.002 | Acute Lung Injury | NA | GAD | Detail | |
| 0.006 | Sepsis | NA | BeFree,GAD | Detail | |
| <0.001 | Asymptomatic bacteriuria | NA | BeFree | Detail | |
| <0.001 | Clinical infection | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | Detection of methylation of the promoter region of the MAL and CADM1 genes by py... | BeFree | 25617886 | Detail |
| <0.001 | Chronic Chagas' disease | NA | BeFree | Detail | |
| <0.001 | Cervical intraepithelial neoplasia grade 2 | In hrHPV-positive cervical scrapes (n = 250), cytology [threshold: atypical squa... | BeFree | 24962840 | Detail |
| 0.005 | Malignant neoplasm of prostate | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of esophagus | NA | BeFree | Detail | |
| <0.001 | Spondylarthritis | This study did not show significant associations of SNP S180L of the TLR2/4 adap... | BeFree | 18073264 | Detail |
| <0.001 | rheumatoid arthritis | The Mal S180L and TLR4 G299D polymorphisms do not contribute to RA susceptibilit... | BeFree | 18180278 | Detail |
| 0.003 | Chagas Cardiomyopathy | Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor ... | BeFree | 19456234 | Detail |
| 0.121 | malaria | Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role ... | BeFree | 19602285 | Detail |
| <0.001 | Chagas disease | T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L varia... | BeFree | 19456234 | Detail |
| <0.001 | Chronic Chagas' disease | TLR1-I602S, TLR2-R753Q, TLR6-S249P, and MAL/TIRAP-S180L did not associate with C... | BeFree | 22302853 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | Epithelial ovarian cancer | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gastrointestinal tract | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | Novel polymorphisms in TLR2, TLR4, MD-2, LBP, CD14 and TIRAP, genes encoding imp... | BeFree | 24929142 | Detail |
| <0.001 | Plasmodium ovale infection | NA | BeFree | Detail | |
| <0.001 | Candidemia | NA | BeFree | Detail | |
| <0.001 | Oropharyngeal candidiasis | NA | BeFree | Detail | |
| <0.001 | Spondylarthritis | 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 | Mediastinal (Thymic) Large B-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Classical Hodgkin's Lymphoma | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| 0.002 | Pneumonia, Ventilator-Associated | NA | GAD | Detail | |
| 0.120 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) | NA | CTD_human | Detail | |
| 0.120 | Invasive Pneumococcal Disease, Recurrent Isolated, 1 | NA | CTD_human | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.003 | Infection | NA | LHGDN | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.120 | Bacteremia | NA | CTD_human | Detail | |
| <0.001 | Bacterial Infections | NA | BeFree | Detail | |
| 0.002 | bacteriuria | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.002 | oral candidiasis | 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 |
| Functional polymorphisms in RNA recognizing toll like receptors (TLR) 3, 7, 8 and toll-interleukin-1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The results suggest that TLR3 and TIRAP gene variants influence the risk for DHF. | DisGeNET | Detail |
| Exosome release induced by HIV-1 Nef was also dependent on MAL expression. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Megakaryoblastic leukemia 1 (MKL1), also known as MAL or myocardin-related transcription factor A (M... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Re-expression of MAL and OLIG2 to physiological levels dramatically reduced the growth of lung tumor... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel polymorphisms in TLR2, TLR4, MD-2, LBP, CD14 and TIRAP, genes encoding important molecules of ... | 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 |
| Functional polymorphisms in RNA recognizing toll like receptors (TLR) 3, 7, 8 and toll-interleukin-1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Detection of methylation of the promoter region of the MAL and CADM1 genes by pyrosequencing in cerv... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In hrHPV-positive cervical scrapes (n = 250), cytology [threshold: atypical squamous cells of undete... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP wi... | DisGeNET | Detail |
| The Mal S180L and TLR4 G299D polymorphisms do not contribute to RA susceptibility or severity either... | DisGeNET | Detail |
| Heterozygosity for the S180L variant of MAL/TIRAP, a gene expressing an adaptor protein in the Toll-... | DisGeNET | Detail |
| Low frequency of the TIRAP S180L polymorphism in Africa, and its potential role in malaria, sepsis, ... | DisGeNET | Detail |
| T. cruzi-infected individuals who are heterozygous for the MAL/TIRAP S180L variant that leads to a d... | DisGeNET | Detail |
| TLR1-I602S, TLR2-R753Q, TLR6-S249P, and MAL/TIRAP-S180L did not associate with CD or CCC. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel polymorphisms in TLR2, TLR4, MD-2, LBP, CD14 and TIRAP, genes encoding important molecules of ... | 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 |
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
- rs386502799 dbSNP
- Genome
- hg19
- Position
- chr11:126,152,392-126,166,053
- Variant Type
- snv
Genome browser