Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Glu330Gly (p.E330G)
(
ENST00000342988.8,
ENST00000398417.6,
ENST00000588745.5,
ENST00000593223.2,
ENST00000714272.1,
ENST00000590061.2,
ENST00000714261.1,
ENST00000714264.1,
ENST00000714266.1,
ENST00000714268.1,
ENST00000714269.1,
ENST00000714270.1,
ENST00000588860.6,
ENST00000589076.6,
ENST00000589941.2 )
SMAD4 p.Gly352Arg (p.G352R) ( ENST00000593223.2, ENST00000342988.8, ENST00000588745.5, ENST00000398417.6, ENST00000589076.6, ENST00000714272.1, ENST00000714270.1, ENST00000714269.1, ENST00000714268.1, ENST00000714266.1, ENST00000714264.1, ENST00000714261.1, ENST00000590061.2, ENST00000589941.2, ENST00000588860.6 )
SMAD4 p.Glu330Gly (p.E330G) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Gly352Arg (p.G352R) ( ENST00000342988.8, ENST00000398417.6, ENST00000588745.5, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000590061.2, ENST00000593223.2, ENST00000714261.1, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 ) - Associated Disease
- juvenile polyposis syndrome
- Source Database
- DisGeNET
- Description
- Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis.
- Pubmed
- 12417513
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.587926175215869
- Year of publication
- 2002
Drugs