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: rs1555685248
rs1555685248
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475 2012
dbSNP: rs1555685248
rs1555685248
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
dbSNP: rs1555685248
rs1555685248
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C0345893
Disease:
Juvenile polyposis syndrome 		C 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648 2005