SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Juvenile polyposis syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500740
rs1060500740
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 GeneticVariation CLINVAR Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 21572342 2012
dbSNP: rs1060500740
rs1060500740
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638 2006