CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
0.310 Biomarker phenotype CTD_human Novel CFTR missense mutations in Brazilian patients with congenital absence of vas deferens: counseling issues. 17823699 2007
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
0.310 Biomarker phenotype CTD_human Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. 18554162 2008
CUI: C0848676
Disease: Subfertility, Male
Subfertility, Male
0.310 AlteredExpression phenotype BEFREE A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. 29079751 2017