SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		0.800 GeneticVariation UNIPROT A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030 2004
dbSNP: rs121912580
rs121912580
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4
CUI: C1832942
Disease:
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		A 0.800 CausalMutation CLINVAR