Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN DNA analysis for BMPR1A was performed on a patient with juvenile polyposis syndrome. 17325551

2007
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker 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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker CLINGEN Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. 11381269

2001
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 Biomarker 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