Annotation Detail
Information
- Associated Genes
- CFTR
- Associated Variants
-
CFTR MUTATION
CFTR MUTATION - Associated Disease
- Congenital bilateral aplasia of vas deferens
- Source Database
- DisGeNET
- Description
- Congenital bilateral absence of vas deferens (CBAVD) is the most common CFTR-related disorder (CFTR-RD) that explains about 1-2% of the male infertility cases.
- Pubmed
- 25386751
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- 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,CLINVAR,CTD_human,GAD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.509163832444431
Drugs