Annotation Detail
Information
- Associated Genes
- SHOX
- Associated Variants
-
SHOX p.Ala170Pro (p.A170P)
(
ENST00000334060.8,
ENST00000381575.6,
ENST00000381578.6,
ENST00000686671.1 )
SHOX p.Ala170Pro (p.A170P) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 )
SHOX p.Ala170Pro (p.A170P) ( ENST00000334060.8, ENST00000381575.6, ENST00000381578.6, ENST00000686671.1 )
SHOX p.Ala170Pro (p.A170P) ( ENST00000711141.1, ENST00000711142.1, ENST00000711143.1, ENST00000711145.1 ) - Associated Disease
- Leri-Weill dyschondrosteosis
- Source Database
- DisGeNET
- Description
- In conclusion, we have identified A170P as the first frequent SHOX mutation in Gypsy LWD and LMD individuals.
- Pubmed
- 21712857
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.49764372168522
- Year of publication
- 2011
Drugs