Source: ORPHANET

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 ChromosomalRearrangement ORPHANET Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach. 23331837

2013
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 ChromosomalRearrangement ORPHANET The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion. 22993021

2013
Entrez Id: 657
Gene Symbol: BMPR1A
BMPR1A
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 GermlineCausalMutation 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
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		1.000 ChromosomalRearrangement 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