Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg231His (p.R231H)
(
ENST00000713926.1,
ENST00000340058.6,
ENST00000615310.5,
ENST00000355710.8 )
RET p.Arg475Gln (p.R475Q) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Arg231His (p.R231H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Arg475Gln (p.R475Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.2
- Year of publication
- NA
Drugs