Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR p.Asn1303Lys (p.N1303K)
(
ENST00000003084.11,
ENST00000649781.2,
ENST00000699602.1,
ENST00000699605.1 )
CFTR p.Asn1303Lys (p.N1303K) ( ENST00000003084.11, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- More than 120 known cystic fibrosis transmembrane conductance regulator (CFTR) disease-causing mutations were screened.
- Pubmed
- 9401006
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.8
- Year of publication
- 1997
Drugs