CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496 2017
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. 27264265 2016
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience. 26003066 2015
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? 20059485 2010
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. 18685558 2009
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)]. 17507277 2007
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR [Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation]. 17175965 2006
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR CFTR gene mutations and male infertility. 10755189 2000
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997