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 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 Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934 1998