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 CTD_human
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease MGD
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity. 8397373 1993
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease CLINGEN Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease UNIPROT Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease CLINGEN Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype. 11536076 2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). 12136244 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease UNIPROT We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). 12136244 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR We examined 29 patients with the clinical diagnosis of JPS for germline mutations in the MADH4 or BMPR1A genes and identified MADH4 mutations in seven (24%) and BMPR1A mutations in five patients (17%). 12136244 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. 12417513 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease CLINVAR DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. 12417513 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease UNIPROT DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A. 12417513 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE Two genes are known to predispose to JP, SMAD4 and bone morphogenetic protein receptor type 1A (BMPR1A). 12417513 2002
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease BEFREE In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis. 12630959 2003
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease UNIPROT In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high-performance liquid chromatography (DHPLC) analysis. 12630959 2003
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
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 GeneticVariation disease BEFREE The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019 2004
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 AlteredExpression disease BEFREE Here we show that conditional inactivation of Bmpr1a in mice disturbs homeostasis of intestinal epithelial regeneration with an expansion of the stem and progenitor cell populations, eventually leading to intestinal polyposis resembling human juvenile polyposis syndrome. 15378062 2004
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 Biomarker disease CLINGEN Here we show that conditional inactivation of Bmpr1a in mice disturbs homeostasis of intestinal epithelial regeneration with an expansion of the stem and progenitor cell populations, eventually leading to intestinal polyposis resembling human juvenile polyposis syndrome. 15378062 2004
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A 		1.000 CausalMutation disease CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006