Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Arg67His (p.R67H)
(
ENST00000340058.6,
ENST00000355710.8,
ENST00000615310.5,
ENST00000638465.2,
ENST00000640619.2,
ENST00000683278.2,
ENST00000684216.2,
ENST00000713926.1 )
RET p.Arg67His (p.R67H) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 ) - Associated Disease
- Congenital central hypoventilation
- Source Database
- DisGeNET
- Description
- Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CCHS.
- Pubmed
- 14566559
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.241085767488321
- Year of publication
- 2003
Drugs