Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET c.73+9277T>C
(
ENST00000355710.8,
ENST00000684216.2,
ENST00000615310.5,
ENST00000683278.2,
ENST00000640619.2,
ENST00000340058.6,
ENST00000638465.2,
ENST00000713926.1 )
RET c.73+9277T>C ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease 1
- Source Database
- DisGeNET
- Description
- No correlation between the rs2435357 polymorphism of RET and the expression of Hirschsprung disease was found.
- Pubmed
- 24845202
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.15610176898668
- Year of publication
- 2014
Drugs