chr12:51906908:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:52,300,692-52,317,145 |
| hg38 | chr12:51,906,908-51,923,361 |
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 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | The three hypotheses were discussed and finally, although p80/ALK1 expression an... | BeFree | 24666231 | Detail |
| 0.003 | Connective Tissue Diseases | NA | BeFree,LHGDN | Detail | |
| <0.001 | Diabetic Nephropathy | NA | BeFree | Detail | |
| 0.002 | Heart Diseases | NA | GAD | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| 0.002 | Hyperparathyroidism, Secondary | NA | GAD | Detail | |
| 0.002 | Hyperplasia | NA | GAD | Detail | |
| 0.008 | Hypertensive disease | NA | BeFree,GAD,LHGDN | Detail | |
| 0.085 | pulmonary hypertension | Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and ... | BeFree,LHGDN,RGD | 24956016 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| 0.002 | liver cirrhosis | NA | GAD | Detail | |
| 0.005 | Liver diseases | NA | BeFree,GAD | Detail | |
| 0.440 | OSLER-RENDU-WEBER SYNDROME 2 | Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telan... | UNIPROT | 15024723 | Detail |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | We evaluated ALK immunohistochemical (IHC) protein expression using three differ... | BeFree | 25188507 | Detail |
| <0.001 | Degenerative polyarthritis | NA | BeFree | Detail | |
| <0.001 | Pancreatic Neoplasm | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | systemic scleroderma | NA | BeFree | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.303 | hereditary hemorrhagic telangiectasia | Since the landmark discovery that bone morphogenetic protein receptor type II (B... | BeFree,CTD_human,GAD,LHGDN,ORPHANET | 25159282 | Detail |
| 0.013 | telangiectasis | NA | BeFree,LHGDN | Detail | |
| 0.001 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | angiodysplasia | NA | BeFree | Detail | |
| 0.007 | Idiopathic pulmonary hypertension | Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in p... | BeFree | 24936649 | Detail |
| 0.007 | Idiopathic pulmonary hypertension | The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental h... | BeFree | 24956016 | Detail |
| 0.007 | Idiopathic pulmonary hypertension | This case supports previous reports indicating that signs of PAH can be the firs... | BeFree | 25318803 | Detail |
| 0.007 | Idiopathic pulmonary hypertension | Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenes... | BeFree | 25543221 | Detail |
| <0.001 | Pulmonary Arteriovenous Fistulas | The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in t... | BeFree | 24001356 | Detail |
| 0.001 | Vascular anomaly | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | Endoglin and ALK1 receptor levels in tumor vasculature correlate inversely with ... | BeFree | 25279424 | Detail |
| 0.004 | Ki-1+ Anaplastic Large Cell Lymphoma | Compared to previously reported cases, the current case of ALK-1-positive ALCL i... | BeFree | 24623571 | Detail |
| 0.004 | Ki-1+ Anaplastic Large Cell Lymphoma | The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibili... | BeFree | 24666231 | Detail |
| 0.004 | Ki-1+ Anaplastic Large Cell Lymphoma | The diagnosis of ALK-positive ALCL has become straightforward due to the generat... | BeFree | 25961700 | Detail |
| <0.001 | Histiocytoma, Benign Fibrous | The three hypotheses were discussed and finally, although p80/ALK1 expression an... | BeFree | 24666231 | Detail |
| <0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| <0.001 | Mental condensation | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Congenital pulmonary arteriovenous malformation | The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in t... | BeFree | 24001356 | Detail |
| <0.001 | Tricho-dento-osseous syndrome (disorder) | NA | BeFree | Detail | |
| <0.001 | Angiodysplasia of colon | NA | BeFree | Detail | |
| 0.440 | OSLER-RENDU-WEBER SYNDROME 2 | Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangie... | UNIPROT | 11170071 | Detail |
| 0.440 | OSLER-RENDU-WEBER SYNDROME 2 | Molecular and functional analysis identifies ALK-1 as the predominant cause of p... | UNIPROT | 14684682 | Detail |
| 0.002 | inflammatory myofibroblastic tumor | The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibili... | BeFree | 24666231 | Detail |
| 0.007 | Arteriovenous hemangioma | NA | BeFree | Detail | |
| 0.001 | Familial primary pulmonary hypertension | NA | BeFree | Detail | |
| <0.001 | juvenile polyposis syndrome | NA | BeFree | Detail | |
| <0.001 | Atypical fibroxanthoma of skin | Atypical fibrous histiocytoma of the skin with CD30 and p80/ALK1 positivity and ... | BeFree | 24666231 | Detail |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Thromboxane synthetase deficiency | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.002 | hepatopulmonary syndrome | NA | GAD | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | We evaluated ALK immunohistochemical (IHC) protein expression using three differ... | BeFree | 25188507 | Detail |
| <0.001 | Dural Arteriovenous Fistula | NA | BeFree | Detail | |
| <0.001 | Invasive breast carcinoma | NA | BeFree | Detail | |
| 0.081 | Arteriovenous Malformations, Cerebral | NA | BeFree,MGD | Detail | |
| <0.001 | Cutaneous lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Primary Cutaneous Anaplastic Large Cell | The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibili... | BeFree | 24666231 | Detail |
| <0.001 | Primary cutaneous lymphoma | NA | BeFree | Detail | |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Systemic Anaplastic Large Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Tumor Angiogenesis | NA | BeFree | Detail | |
| <0.001 | tumor vasculature | Endoglin and ALK1 receptor levels in tumor vasculature correlate inversely with ... | BeFree | 25279424 | Detail |
| <0.001 | Congenital vascular anomaly | NA | BeFree | Detail | |
| 0.005 | Pulmonary arterial hypertension | Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in p... | BeFree | 24936649 | Detail |
| 0.005 | Pulmonary arterial hypertension | The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental h... | BeFree | 24956016 | Detail |
| 0.005 | Pulmonary arterial hypertension | This case supports previous reports indicating that signs of PAH can be the firs... | BeFree | 25318803 | Detail |
| 0.005 | Pulmonary arterial hypertension | Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenes... | BeFree | 25543221 | Detail |
| 0.003 | Idiopathic pulmonary arterial hypertension | NA | BeFree | Detail | |
| 0.005 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in p... | BeFree | 24936649 | Detail |
| 0.005 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental h... | BeFree | 24956016 | Detail |
| 0.005 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | This case supports previous reports indicating that signs of PAH can be the firs... | BeFree | 25318803 | Detail |
| 0.005 | Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia | Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenes... | BeFree | 25543221 | Detail |
| <0.001 | Congenital Abnormality | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | Three hundred and three pulmonary adenocarcinomas were evaluated with ALK FISH a... | BeFree | 24612196 | Detail |
| <0.001 | Aneurysm | NA | BeFree | Detail | |
| <0.001 | cutaneous fibrous histiocytoma | Atypical fibrous histiocytoma of the skin with CD30 and p80/ALK1 positivity and ... | BeFree | 24666231 | Detail |
| 0.015 | Congenital arteriovenous malformation | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| 0.003 | Brain Abscess | NA | LHGDN | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| The three hypotheses were discussed and finally, although p80/ALK1 expression and cytogenetic abnorm... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Key role of the endothelial TGF-β/ALK1/endoglin signaling pathway in humans and rodents pulmonary hy... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We evaluated ALK immunohistochemical (IHC) protein expression using three different antibodies (ALK1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations caus... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmona... | DisGeNET | Detail |
| The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental hypoxic PH via a dire... | DisGeNET | Detail |
| This case supports previous reports indicating that signs of PAH can be the first manifestation of d... | DisGeNET | Detail |
| Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. | DisGeNET | Detail |
| The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in the ACVRL1 mutation c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Endoglin and ALK1 receptor levels in tumor vasculature correlate inversely with prognosis in humans,... | DisGeNET | Detail |
| Compared to previously reported cases, the current case of ALK-1-positive ALCL is a rare case with a... | DisGeNET | Detail |
| The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnose... | DisGeNET | Detail |
| The diagnosis of ALK-positive ALCL has become straightforward due to the generation of the reliable ... | DisGeNET | Detail |
| The three hypotheses were discussed and finally, although p80/ALK1 expression and cytogenetic abnorm... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The prevalence of PAVM was 52.3% in patients with an ENG mutation and 12.9% in the ACVRL1 mutation c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large ... | DisGeNET | Detail |
| Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertensio... | DisGeNET | Detail |
| The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnose... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Atypical fibrous histiocytoma of the skin with CD30 and p80/ALK1 positivity and ALK gene rearrangeme... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We evaluated ALK immunohistochemical (IHC) protein expression using three different antibodies (ALK1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The expression of CD30 and ALK1 with ALK gene rearrangement raised the possibility of three diagnose... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Endoglin and ALK1 receptor levels in tumor vasculature correlate inversely with prognosis in humans,... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmona... | DisGeNET | Detail |
| The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental hypoxic PH via a dire... | DisGeNET | Detail |
| This case supports previous reports indicating that signs of PAH can be the first manifestation of d... | DisGeNET | Detail |
| Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmona... | DisGeNET | Detail |
| The TGF-β/ALK1/ENG signaling pathway plays a key role in iPAH and experimental hypoxic PH via a dire... | DisGeNET | Detail |
| This case supports previous reports indicating that signs of PAH can be the first manifestation of d... | DisGeNET | Detail |
| Some genes (BMPR2, ACVRL1, ENG) seem to play an important role in PAH pathogenesis. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Three hundred and three pulmonary adenocarcinomas were evaluated with ALK FISH and stained with five... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Atypical fibrous histiocytoma of the skin with CD30 and p80/ALK1 positivity and ALK gene rearrangeme... | 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
- rs28936398 dbSNP
- Genome
- hg38
- Position
- chr12:51,906,908-51,923,361
- Variant Type
- snv
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