Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Pro1039Gln (p.P1039Q)
(
ENST00000615310.5,
ENST00000355710.8,
ENST00000713926.1,
ENST00000340058.6 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000355710.8, ENST00000615310.5, ENST00000340058.6, ENST00000713926.1 )
RET p.Pro1039Gln (p.P1039Q) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
RET p.Pro1039Leu (p.P1039L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 ) - Associated Disease
- Congenital central hypoventilation
- Source Database
- DisGeNET
- Description
- Mutations of the RET-GDNF signaling pathway in Ondine's curse.
- Pubmed
- 9497256
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.241085767488321
- Year of publication
- 1998
Drugs