CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: bilateral agenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		0.020 GeneticVariation disease BEFREE The purpose of this study was to verify the frequency of CFTR gene mutation in patients with bilateral agenesis of the vas deferens using SSCP and sequencing. 16581722 2006
CUI: C0332910
Disease: bilateral agenesis
bilateral agenesis 		0.020 GeneticVariation disease BEFREE For men with at least one CFTR mutation, motile sperm could be detected in 100% of 13 men with congenital bilateral absence of vasa deferentia (VD) but only in 44% of 18 with present VD. 21284574 2011