CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital absence of kidney ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		0.020 GeneticVariation disease BEFREE Neither the azoospermic patients with congenital unilateral aplasia of vas deferens nor those with CBAVD and renal aplasia were found to have CFTR mutations. 22340520 2012
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		0.020 GeneticVariation disease BEFREE Patients with CBAVD and renal agenesis should be screened for CFTR gene mutations before assisted reproductive techniques are used. 11119745 2000