Gene: BMPR1A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE We reason that, even in the absence of juvenile polyposis syndrome, sequencing and copy number analysis of BMPR1A should be considered in patients with (atrioventricular) septal defects, especially when associated with facial dysmorphism and anomalous growth. 22067610 2012
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR SP1 regulates the transcription of BMPR1A. 21872883 2011
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE In about 50%-60% of patients diagnosed with juvenile polyposis syndrome a germline mutation in the SMAD4 or BMPR1A gene is found. 22171123 2011
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Juvenile polyposis syndrome (JPS) is caused by heterozygous mutations in either SMAD4 or BMPR1A. 21465659 2011
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. 20843829 2010
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE In both CRCs, MSI and MSS, we found somatic mutations in the intracellular kinase domain of bone morphogenetic protein receptor 1A, BMPR1A, a gene where so far germline mutations are associated with juvenile polyposis syndrome, and show that the mutations functionally impair the protein function. 21203531 2010
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in SMAD4 and BMPR1A (for JP) and endoglin and ALK1 (for HHT). 20101697 2010
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis. 20843829 2010
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR Hereditary mixed polyposis syndrome due to a BMPR1A mutation. 19438883 2010
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382 2009
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382 2009
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382 2009
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GermlineCausalMutation disease ORPHANET The overall prevalence of SMAD4 and BMPR1A point mutations and deletions in JPS was 45% in the largest series of patients to date. 18823382 2009
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Recently, 10q23 microdeletions involving the PTEN and BMPR1A genes were found in four patients with infantile juvenile polyposis. 18510548 2008
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. 18262054 2008
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Large genomic deletions of SMAD4, BMPR1A and PTEN are a common cause of JPS. 18178612 2008
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease CLINGEN DNA analysis for BMPR1A was performed on a patient with juvenile polyposis syndrome. 17325551 2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE DNA analysis for BMPR1A was performed on a patient with juvenile polyposis syndrome. 17325551 2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). 17873119 2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE Pathogenic germline mutations in both the SMAD4 and BMPR1A genes involved in the transforming growth factor beta pathway account for 40% of cases of JPS. 17573831 2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 ChromosomalRearrangement disease ORPHANET Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. 16685657 2006
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. 16525031 2006
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004