Annotation Detail

Information
Associated Genes
CFTR
Associated Variants
CFTR MUTATION
CFTR MUTATION
Associated Disease
azoospermia
Source Database
DisGeNET
Description
Our results show that double heterozygosity of cystic fibrosis (CF) and CFTR-related disorder (CFTR-RD) mutations are found in a high percentage (22.7%) of infertile men with obstructive azoospermia, but not in other studied groups of infertile men.
Pubmed
25386751
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
5
Original source reporting the Gene Disease association
BeFree,CTD_human,GAD
DisGENET score for the Gene Disease association
0.142074006161941
Drugs