Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE Through our study of MRI, SV agenesis is not well associated with the presence of CFTR mutation in patients with CAVD. 23768522

2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE Patients with vasal agenesis or unexplained obstructive azoospermia and low semen volume should be tested for abnormalities of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 22729088

2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE The results militate against the assumption that there is an association between the CFTR gene and unilateral aplasia of vas deferens or bilateral aplasia of vas deferens with renal involvement. 22340520

2012
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE Our results show the importance of the investigation of CFTR mutation in patients with vas deferens agenesis. 16581722

2006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE A higher prevalence of cystic fibrosis transmembrane regulator (CFTR) gene mutations has been suggested both in men affected by congenital aplasia of the vas deferens, and in individuals presenting with reduced sperm quality. 10402399

1999
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 Biomarker BEFREE CFTR gene mutations frequently contribute to maldevelopment of the vas deferens but vasal agenesis can occur without any evidence of CFTR defects. 8627844

1996
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0000846
Disease: Agenesis
Agenesis 		0.070 GeneticVariation BEFREE Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens. 7513294

1994