rs191456345, CFTR

N. diseases: 3
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here. 19810821 2009
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 17413420 2007
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493 2006
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. 10875853 2000
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 9305991 1997
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation CLINVAR Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962 1995
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
0.800 GeneticVariation UNIPROT