|
Young Syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The relationship between abnormal CFTR alleles and unilateral absence of the vas deferens, isolated seminal vesicle anomalies, and Young syndrome is less well characterized and awaits further investigation.
|
9755815 |
1998 |
|
Young Syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
The CFTR gene is probably not involved in the aetiology of Young's syndrome.
|
9147111 |
1996 |
|
Wheezing
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Watery diarrhoea
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
In conclusion, EspP stimulates colonic CFTR-independent active ion transport and may be involved in the pathophysiology of EHEC diarrhea.Serine protease toxins from <i>E. coli</i> pathogens appear to serve as enterotoxins, potentially significantly contributing to watery diarrhea.
|
30200426 |
2018 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.
|
30575882 |
2018 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Vitamin K Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
However, not liver cirrhosis, but the presence of a F508del CFTR mutation constitutes an independent risk factor for vitamin K deficiency.
|
28185838 |
2017 |
|
Virus Diseases
|
0.040 |
Biomarker
|
group |
BEFREE |
Influenza virus M2 targets cystic fibrosis transmembrane conductance regulator for lysosomal degradation during viral infection.
|
25795456 |
2015 |
|
Virus Diseases
|
0.040 |
Biomarker
|
group |
BEFREE |
Viral infection caused the nanoscale microdomains to fuse into large platforms and reduced CFTR mobility.
|
26153705 |
2015 |
|
Virus Diseases
|
0.040 |
Biomarker
|
group |
BEFREE |
This review summarizes our present knowledge of how influenza virus infections alter airway and alveolar epithelial cell CFTR and ENaC function in vivo and in vitro and the role of these changes in influenza pathogenesis.
|
28775098 |
2017 |
|
Virus Diseases
|
0.040 |
GeneticVariation
|
group |
BEFREE |
Thus, we surmised that factors enlisted to process misfolded proteins such as ΔF508-CFTR in the secretory pathway also act to restrict viral infection.
|
21625534 |
2011 |
|
Vascular inflammations
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
However, little is known about the role of CFTR in vascular inflammation and atherogenesis.
|
28615349 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.
|
20932301 |
2010 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis.
|
25033378 |
2014 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians.
|
19166122 |
2008 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?
|
24697796 |
2014 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?
|
15097853 |
2004 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience.
|
26003066 |
2015 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
|
28830496 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
What can the CF registry tell us about rare CFTR-mutations? A Belgian study.
|
28830496 |
2017 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
|
7529962 |
1995 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
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 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.
|
18685558 |
2009 |
|
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound.
|
16196493 |
2006 |