Annotation Detail
Information
- Associated Genes
- RET
- Associated Variants
-
RET p.Ser32Leu (p.S32L)
(
ENST00000638465.2,
ENST00000683278.2,
ENST00000640619.2,
ENST00000340058.6,
ENST00000713926.1,
ENST00000355710.8,
ENST00000684216.2,
ENST00000615310.5 )
RET p.Ser32Leu (p.S32L) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000638465.2, ENST00000640619.2, ENST00000683278.2, ENST00000684216.2, ENST00000713926.1 ) - Associated Disease
- Hirschsprung disease, susceptibility to, 1
- Source Database
- DisGeNET
- Description
- A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.
- Pubmed
- 10618407
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.2
- Year of publication
- 2000
Drugs