Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720

2013

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. 22799562

2012

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. 18262054

2008

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612

2008

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns. 14734220

2004

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Molecular recognition of BMP-2 and BMP receptor IA. 15064755

2004

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244

2002

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076

2001

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 CausalMutation CLINVAR Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269

2001

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076

2001

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Crystal structure of the BMP-2-BRIA ectodomain complex. 10881198

2000

Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.110 GeneticVariation CLINVAR Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome. 9371495

1997