Annotation Detail
Information
- Associated Genes
- SMAD4
- Associated Variants
-
SMAD4 p.Ile500Val (p.I500V)
(
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.Ile500Thr (p.I500T) ( ENST00000714261.1, ENST00000588860.6, ENST00000589076.6, ENST00000589941.2, ENST00000398417.6, ENST00000590061.2, ENST00000593223.2, ENST00000588745.5, ENST00000342988.8, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000714270.1, ENST00000714272.1 )
SMAD4 p.Ile500Met (p.I500M) ( 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.Ile500Val (p.I500V) ( 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.Ile500Thr (p.I500T) ( ENST00000342988.8, ENST00000714270.1, ENST00000588860.6, ENST00000589941.2, ENST00000714272.1, ENST00000588745.5, ENST00000398417.6, ENST00000714264.1, ENST00000714266.1, ENST00000714268.1, ENST00000714269.1, ENST00000589076.6, ENST00000714261.1, ENST00000593223.2, ENST00000590061.2 )
SMAD4 p.Ile500Met (p.I500M) ( 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
- Growth mental deficiency syndrome of Myhre
- Source Database
- DisGeNET
- Description
- Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
- Pubmed
- 22158539
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.481900093104562
- Year of publication
- 2012
Drugs