ACVR1B, activin A receptor type 1B, 91

N. diseases: 41; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.200 Biomarker disease RGD Elevated levels of activin A in heart failure: potential role in myocardial remodeling. 14993131 2004
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.130 Biomarker disease BEFREE ACVR1B suppresses early stages of pancreatic tumorigenesis; the activin signaling pathway therefore might be a therapeutic target for pancreatic cancer. 26408346 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.130 PosttranslationalModification disease BEFREE We identified a homozygous deletion of the ACVR1B gene in PC cell lines and clinical samples and proposed that the deletion of the ACVR1B gene may mediate an aggressive cancer phenotype in PC. 24886203 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.130 Biomarker disease BEFREE Here we describe the gene structure and novel somatic mutations of the activin type I receptor, ACVR1B, in pancreatic cancer. 11248065 2001
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.130 CausalMutation disease CLINVAR
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.110 GeneticVariation disease BEFREE When patients were stratified for age, it was found that six of six cases (100%) of lung adenocarcinoma diagnosed in patients <30 years of age were translocated for ALK (4 cases) or ROS1 (2 cases). 27237034 2016
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.110 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. 26732429 2016
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.100 GeneticVariation disease GWASCAT Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. 26732429 2016
CUI: C0857490
Disease: Granulocyte count
Granulocyte count
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator
0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE The knockdown of CD44 or ALK4 strongly suppressed the tumor growth in immunodeficient mice. 30061637 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE We have previously discovered that the Activin A ligand acts as a tumor suppressor when epithelial Activin receptor type IB (ACVRIB) is intact; however, this effect is lost upon ACVRIB downregulation. 29312797 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 AlteredExpression group BEFREE In a xenograft study, ACVR1B-knockdown resulted in a significantly elevated level of tumorigenesis and a larger tumor volume, compared with the control. 24886203 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 GeneticVariation group BEFREE To investigate the role of germ-line mutations in the etiology of pancreatic cancer, we have analyzed samples from patients with pancreatic cancer enrolled in the NFPTR for mutations in four tumor suppressor candidate genes: (a) MAP2K4; (b) MADH4; (c) ACVR1B; and (d) BRCA2 by direct sequencing of constitutional DNA. 12097290 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE ACVR1B has not been described previously as a mutated tumor-suppressor gene. 11248065 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.060 Biomarker group BEFREE Three truncated ALK4 receptor mRNAs generated by alternate splicing of the cytoplasmic Ser/Thr kinase domain were found to be tumor specific. 8636304 1996
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.040 Biomarker disease BEFREE ACVR1B suppresses early stages of pancreatic tumorigenesis; the activin signaling pathway therefore might be a therapeutic target for pancreatic cancer. 26408346 2016
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.040 PosttranslationalModification disease BEFREE We identified a homozygous deletion of the ACVR1B gene in PC cell lines and clinical samples and proposed that the deletion of the ACVR1B gene may mediate an aggressive cancer phenotype in PC. 24886203 2014
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.040 GeneticVariation disease BEFREE No mutations were identified in mitogen-activated protein kinase kinase 4 (0 of 22), MADH4 (0 of 22), or ACVR1B (0 of 29), making it unlikely that germ-line mutations in these genes account for a significant number of inherited pancreatic cancers. 12097290 2002
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
0.040 Biomarker disease BEFREE Here we describe the gene structure and novel somatic mutations of the activin type I receptor, ACVR1B, in pancreatic cancer. 11248065 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.030 Biomarker phenotype BEFREE Aristaless-like homeobox 4 (ALK4) is a member of ALK proteins family and plays an important role in tumorigenesis. 29278854 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.030 Biomarker phenotype BEFREE STAT3 inhibitor (Niclosamide) obviously enhanced ALK4-inhibted glioma cell proliferation and invasion. 29278854 2018