Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.320 GeneticVariation disease ORPHANET Should diffuse bronchiectasis still be considered a CFTR-related disorder? 25797027 2015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.320 GeneticVariation disease ORPHANET The results obtained in this study indicate involvement of 2 common CFTR variants, c.1210-12T[5] and c.1408A, in idiopathic bronchiectasis in children, but this observation should be further confirmed by more extensive analysis of the CFTR gene in a larger group of patients. 23781395 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.320 GeneticVariation disease BEFREE We extensively analysed ENaCbeta and gamma genes in 55 patients with idiopathic bronchiectasis and without two mutations in the coding regions of CFTR. 18507830 2008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
0.320 GeneticVariation disease BEFREE Little is known about the relationship between cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asian patients and severe asthma or idiopathic bronchiectasis. 16678503 2006
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
0.300 GermlineCausalMutation disease ORPHANET Recommendations for the classification of diseases as CFTR-related disorders. 21658649 2011
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
0.300 GermlineCausalMutation disease ORPHANET Recommendations for the classification of diseases as CFTR-related disorders. 21658649 2011
Entrez Id: 6337
Gene Symbol: SCNN1A
SCNN1A
0.300 GermlineCausalMutation disease ORPHANET Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. 19462466 2009
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
0.300 GermlineCausalMutation disease ORPHANET Could a defective epithelial sodium channel lead to bronchiectasis. 18507830 2008
Entrez Id: 6340
Gene Symbol: SCNN1G
SCNN1G
0.300 GermlineCausalMutation disease ORPHANET Could a defective epithelial sodium channel lead to bronchiectasis. 18507830 2008
Entrez Id: 3107
Gene Symbol: HLA-C
HLA-C
0.020 Biomarker disease BEFREE Homozygosity for HLA-C has been shown in a single study to confer increased genetic susceptibility to idiopathic bronchiectasis. 24986480 2014
Entrez Id: 3107
Gene Symbol: HLA-C
HLA-C
0.020 GeneticVariation disease BEFREE Because the HLA-C locus and killer cell immunoglobulin-like receptors (KIRs) are of key importance for NK cell recognition, we analyzed HLA-C/KIR combinations by genotyping patients with idiopathic bronchiectasis. 16254274 2006
Entrez Id: 89765
Gene Symbol: RSPH1
RSPH1
0.010 GeneticVariation disease BEFREE Screening RSPH1 in 413 unrelated probands, including 325 with PCD and 88 with idiopathic bronchiectasis, revealed biallelic loss-of-function mutations in nine additional probands. 24568568 2014
Entrez Id: 6690
Gene Symbol: SPINK1
SPINK1
0.010 GeneticVariation disease BEFREE Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were found in 6 patients: 4 of 29 (13.8%) patients with ICP (3 p.Asn34Ser and 1 p.Pro55Ser), 1 of 7 (14.3%) healthy controls (p.Asn34Ser) and 1 of 9 (11.1%) patients with IB (p.Pro55Ser). 24451227 2014
Entrez Id: 1991
Gene Symbol: ELANE
ELANE
0.010 GeneticVariation disease BEFREE The aim of this study was to investigate polymorphisms in the promoter region of the neutrophil elastase (ELANE) gene as potential modulators of the therapeutic response in children with idiopathic bronchiectasis. 24816969 2014
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.010 GeneticVariation disease BEFREE Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were found in 6 patients: 4 of 29 (13.8%) patients with ICP (3 p.Asn34Ser and 1 p.Pro55Ser), 1 of 7 (14.3%) healthy controls (p.Asn34Ser) and 1 of 9 (11.1%) patients with IB (p.Pro55Ser). 24451227 2014
Entrez Id: 115019
Gene Symbol: SLC26A9
SLC26A9
0.010 GeneticVariation disease BEFREE We describe two missense variants in the SLC26A9 gene in heterozygote patients presenting with diffuse idiopathic bronchiectasis : p.Arg575Trp, identified in a patient also heterozygote for p.Phe508del in the CFTR gene; and p.Val486Ile. 24272871 2013
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
0.010 Biomarker disease BEFREE We found an increase in the prevalence of HLA-DRB1*01 DQA1*01/DQB1*05 genes in idiopathic bronchiectasis; that is, the HLA-DR1, DQ5 haplotype (odds ratio 2.19, 95% confidence interval 1.15-4.16, P = 0.0152) compared with control subjects. 18241227 2008
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.010 Biomarker disease BEFREE We found an increase in the prevalence of HLA-DRB1*01 DQA1*01/DQB1*05 genes in idiopathic bronchiectasis; that is, the HLA-DR1, DQ5 haplotype (odds ratio 2.19, 95% confidence interval 1.15-4.16, P = 0.0152) compared with control subjects. 18241227 2008
Entrez Id: 6890
Gene Symbol: TAP1
TAP1
0.010 GeneticVariation disease BEFREE The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children. 17245734 2007
Entrez Id: 10482
Gene Symbol: NXF1
NXF1
0.010 GeneticVariation disease BEFREE Our aim was to document the relationship between idiopathic bronchiectasis and TAP gene polymorphisms. 17245734 2007
Entrez Id: 23541
Gene Symbol: SEC14L2
SEC14L2
0.010 GeneticVariation disease BEFREE Our aim was to document the relationship between idiopathic bronchiectasis and TAP gene polymorphisms. 17245734 2007
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
0.010 GeneticVariation disease BEFREE Our aim was to document the relationship between idiopathic bronchiectasis and TAP gene polymorphisms. 17245734 2007
Entrez Id: 6891
Gene Symbol: TAP2
TAP2
0.010 GeneticVariation disease BEFREE The role of TAP1 and TAP2 gene polymorphism in idiopathic bronchiectasis in children. 17245734 2007
Entrez Id: 8615
Gene Symbol: USO1
USO1
0.010 GeneticVariation disease BEFREE Our aim was to document the relationship between idiopathic bronchiectasis and TAP gene polymorphisms. 17245734 2007
Entrez Id: 3577
Gene Symbol: CXCR1
CXCR1
0.010 GeneticVariation disease BEFREE IFN gamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis. 17026468 2006