Annotation Detail
Information
- Associated Genes
- PRX
- Associated Variants
-
PRX p.Asp746Asn (p.D746N)
(
ENST00000324001.8,
ENST00000291825.11,
ENST00000673881.1,
ENST00000674005.2,
ENST00000674773.1 )
PRX p.Asp746Asn (p.D746N) ( ENST00000291825.11, ENST00000324001.8, ENST00000673881.1, ENST00000674005.2, ENST00000674773.1 ) - Associated Disease
- CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
- Source Database
- DisGeNET
- Description
- Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.
- Pubmed
- 22847150
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2012
Drugs