rs199476089, BMPR1A

N. diseases: 1
Disease: Juvenile polyposis syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
0.700 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959 2003
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
0.700 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513 2002
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
0.700 GeneticVariation UNIPROT Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244 2002
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
0.700 GeneticVariation UNIPROT Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. 11536076 2001