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: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? 24697796 2014
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR COMMD1-mediated ubiquitination regulates CFTR trafficking. 21483833 2011
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. 20932301 2010
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians. 19166122 2008
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. 16840743 2006
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. 15744523 2005
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 15121783 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis. 15084988 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. 15537723 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR The phenotypic consequences of CFTR mutations. 12940920 2003
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function. 11118444 2001
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. 10376575 1999
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype. 9550362 1998
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997