Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION - Associated Disease
- Pancreatitis, Chronic
- Source Database
- DisGeNET
- Description
- Mutations in the cationic trypsinogen (PRSS1), cystic fibrosis transmembrane conductance regulator (CFTR), serine protease inhibitor Kazal type 1 (SPINK1), and chymotrypsin C (CTRC) genes are associated with an elevated risk for chronic pancreatitis, which is a known risk factor for pancreatic cancer (PC).
- Pubmed
- 25003218
- Section of the abstract supporting the evidence
- OBJECTIVE
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.17349270693139
Drugs