cystic fibrosis
SaudiVarKB evidence summary derived from retained literature mentions.
140Phenotype mentions
100Publications
48Associated gene records
50Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| CFTR | HGNC:1884 | 47 | 47 |
| S100A9 | HGNC:10499 | 2 | 2 |
| SMN1 | HGNC:11117 | 2 | 2 |
| TLR4 | HGNC:11850 | 2 | 2 |
| S100A8 | HGNC:10498 | 2 | 2 |
| COL1A1 | HGNC:2197 | 1 | 1 |
| TSC2 | HGNC:12363 | 1 | 1 |
| NF1 | HGNC:7765 | 1 | 1 |
| NAT2 | HGNC:7646 | 1 | 1 |
| PKHD1 | HGNC:9016 | 1 | 1 |
| TG | HGNC:11764 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| DOCK8 | HGNC:19191 | 1 | 1 |
| STAT3 | HGNC:11364 | 1 | 1 |
| PGD | HGNC:8891 | 1 | 1 |
| CYP3A4 | HGNC:2637 | 1 | 1 |
| PGM3 | HGNC:8907 | 1 | 1 |
| TRPV4 | HGNC:18083 | 1 | 1 |
| CYP2B6 | HGNC:2615 | 1 | 1 |
| TF | HGNC:11740 | 1 | 1 |
| MAF | HGNC:6776 | 1 | 1 |
| CHRNA5 | HGNC:1959 | 1 | 1 |
| RSPH9 | HGNC:21057 | 1 | 1 |
| SLC19A1 | HGNC:10937 | 1 | 1 |
| S100A13 | HGNC:10490 | 1 | 1 |
| DPYD | HGNC:3012 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| PKD1 | HGNC:9008 | 1 | 1 |
| PKD2 | HGNC:9009 | 1 | 1 |
| EGF | HGNC:3229 | 1 | 1 |
| SCNN1B | HGNC:10600 | 1 | 1 |
| AGR2 | HGNC:328 | 1 | 1 |
| APOA1 | HGNC:600 | 1 | 1 |
| NEK10 | HGNC:18592 | 1 | 1 |
| PKD1L3 | HGNC:21716 | 1 | 1 |
| CACNA1S | HGNC:1397 | 1 | 1 |
| TP63 | HGNC:15979 | 1 | 1 |
| RYR1 | HGNC:10483 | 1 | 1 |
| DKC1 | HGNC:2890 | 1 | 1 |
| VLDLR | HGNC:12698 | 1 | 1 |
| ADO | HGNC:23506 | 1 | 1 |
| S100A3 | HGNC:10493 | 1 | 1 |
| S100A12 | HGNC:10489 | 1 | 1 |
| SLCO1B1 | HGNC:10959 | 1 | 1 |
| MT-RNR1 | HGNC:7470 | 1 | 1 |
| ATIC | HGNC:794 | 1 | 1 |
| IFNL3 | HGNC:18365 | 1 | 1 |
| CYP2A6 | HGNC:2610 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| I1234V | I1234V | 4 | 4 |
| c.1521_1523delCTT | c.1521_1523delCTT | 3 | 3 |
| c.1418delG | c.1418delG | 3 | 3 |
| c.579+1G>T | c.579+1G>T | 2 | 2 |
| 1G>T | 1G>T | 1 | 1 |
| c.2988+1G>A | c.2988+1G>A | 1 | 1 |
| c.4124A>C | c.4124A>C | 1 | 1 |
| N1303K | N1303K | 1 | 1 |
| c.3909C>G | c.3909C>G | 1 | 1 |
| p.Asn1303Lys | p.Asn1303Lys | 1 | 1 |
| p.Ile1234Val | p.Ile1234Val | 1 | 1 |
| 1G>A | 1G>A | 1 | 1 |
| p.Ser549Arg | p.Ser549Arg | 1 | 1 |
| p.Asn1303Lys | p.Asn1303Lys | 1 | 1 |
| D579G | D579G | 1 | 1 |
| c.7317delA | c.7317delA | 1 | 1 |
| c.5C>T | c.5C>T | 1 | 1 |
| p.A2V | p.A2V | 1 | 1 |
| c.1766T>A | c.1766T>A | 1 | 1 |
| p.I589N | p.I589N | 1 | 1 |
| c.2117G>T | c.2117G>T | 1 | 1 |
| p.R706L | p.R706L | 1 | 1 |
| I1234V | I1234V | 1 | 1 |
| rs556880586 | rs556880586 | 1 | 1 |
| rs949472192 | rs949472192 | 1 | 1 |
| rs16969968 | rs16969968 | 1 | 1 |
| rs1801268 | rs1801268 | 1 | 1 |
| rs772226819 | rs772226819 | 1 | 1 |
| rs121434568 | rs121434568 | 1 | 1 |
| rs193922816 | rs193922816 | 1 | 1 |
| rs3826711 | rs3826711 | 1 | 1 |
| rs267606617 | rs267606617 | 1 | 1 |
| rs267606618 | rs267606618 | 1 | 1 |
| rs267606619 | rs267606619 | 1 | 1 |
| rs4673993 | rs4673993 | 1 | 1 |
| rs1051266 | rs1051266 | 1 | 1 |
| rs2242480 | rs2242480 | 1 | 1 |
| rs11881222 | rs11881222 | 1 | 1 |
| rs115545701 | rs115545701 | 1 | 1 |
| p.Gly628Arg | p.Gly628Arg | 1 | 1 |
| rs397508316 | rs397508316 | 1 | 1 |
| c.1375_1383del | c.1375_1383del | 1 | 1 |
| c.2988+1G>A | c.2988+1G>A | 1 | 1 |
| c.1911delG | c.1911delG | 1 | 1 |
| c.416A>T | c.416A>T | 1 | 1 |
| c.2421A>G | c.2421A>G | 1 | 1 |
| c.3908A>C | c.3908A>C | 1 | 1 |
| c.3889dupT | c.3889dupT | 1 | 1 |
| c.1657C>T | c.1657C>T | 1 | 1 |
| c.2547C>A | c.2547C>A | 1 | 1 |
Associated population records
Co-mentioned in the same publicationsSupporting publications
100 records- 2026Small-colony variants of Staphylococcus aureus: hidden threat in chronic and recurrent infections.Naunyn-Schmiedeberg's archives of pharmacology1 mentions
- 2026Adult Ileocolic Intussusception in a Patient With Cystic Fibrosis: Diagnostic Role of Point-of-Care Ultrasound 'Case Report'.Australasian journal of ultrasound in medicine1 mentions
- 2026Human infections caused by pathogenic Burkholderia: current clinical challenges and future perspectives.Infection1 mentions
- 2026Physical inactivity in chronic airways disease: an important candidate in the treatable traits paradigm.European respiratory review : an official journal of the European Respiratory Society1 mentions
- 2026Analyzing fourteen deleterious nsSNPs of CFTR as promising genetic markers for cancer prognosis.Scientific reports1 mentions
- 2026Predictors of quality of life in parents of children with rare diseases: a tertiary care center cross-sectional study in Saudi Arabia.Frontiers in public health1 mentions
- 2026The Impact of Exercise Intervention on Pulmonary and Physical Function in Patients With Cystic Fibrosis: A Comprehensive Systematic Review.Saudi medical journal1 mentions
- 2026Nano-Based Therapeutics in Rare Disease Management: Current Perspectives, Challenges, and Unmet Needs.Current neuropharmacology1 mentions
- 2026Single-Center Experience in Pediatric Lung Transplantation: Clinical Characteristics, Survival, and Post-Transplant Morbidity.Pediatric transplantation1 mentions
- 2025Measurement of treatment burden in cystic fibrosis: A systematic review.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society1 mentions
- 2025Clinical Outcomes in Patients with Cystic Fibrosis Receiving CFTR Modulators: A Comparison of Childhood Versus Adolescent Initiation.Children (Basel, Switzerland)1 mentions
- 2025The effect of quaternary ammonium compounds (QACs) on quorum sensing and resistance of P. aeruginosa in clinical settings.Microbial pathogenesis1 mentions
- 2025Chloride channels and mast cell function: pioneering new frontiers in IBD therapy.Molecular and cellular biochemistry1 mentions
- 2025Vitality is associated with systemic inflammation in cystic fibrosis adults on elexacaftor/tezacaftor/ivacaftor.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society1 mentions
- 2025Assessing respiratory therapists' compliance with cystic fibrosis guidelines in Saudi Arabia: A descriptive quantitative study.Canadian journal of respiratory therapy : CJRT = Revue canadienne de la therapie respiratoire : RCTR1 mentions
- 2025Comparative Efficacy of CFTR Modulators: A Network Meta-analysis.Lung1 mentions
- 2025Whole proteome-integrated and vaccinomics-based next generation mRNA vaccine design against Pseudomonas aeruginosa-A hierarchical subtractive proteomics approach.International journal of biological macromolecules1 mentions
- 2025Efficacy of Long-Term Use of Azithromycin in the Management of Cystic Fibrosis in Pediatric Patients with or Without Pseudomonas aeruginosa: A Systematic Review and Meta-Analysis Article.Medicina (Kaunas, Lithuania)1 mentions
- 2025Unveiling the heritability of selected unexplored pharmacogenetic markers in the Saudi population.Frontiers in pharmacology1 mentions
- 2025Calprotectin inhibition attenuates silica-induced lung fibrosis.Inflammopharmacology1 mentions
- 2025Unlocking the potential: advancements and applications of gene therapy in severe disorders.Annals of medicine1 mentions
- 2025Clinical efficacy of elexacaftor-tezacaftor-ivacaftor in two siblings with homozygous I1234V mutation cystic fibrosis: A prospective case series.Respiratory medicine case reports1 mentions
- 2025Survey Validation of Exercise and Body Composition Testing and Exercise Training Programs for People With Cystic Fibrosis: A Delphi Study.Pediatric pulmonology1 mentions
- 2025A severe early presentation of cystic fibrosis in an infant with a homozygous c.1375_1383del CFTR variant- a case report.Frontiers in pediatrics1 mentions
- 2025Impact of Nutritional Status on Pulmonary Function in Pediatric Cystic Fibrosis: A Retrospective Multicenter Study from Upper Egypt.Medical sciences (Basel, Switzerland)1 mentions
- 2025A systematic review and meta-analysis of the treatment modalities available for children afflicted from cystic fibrosis.BMC pediatrics1 mentions
- 2025Cystic fibrosis mutant DNA analysis by interfacial electrochemical reactions with gold nanorods as catalysts on interdigitated tautochrone-curve electrodes.International journal of biological macromolecules1 mentions
- 2025Challenging the paradigm: non-canonical exoprotease cheating in clinical Pseudomonas aeruginosa isolates.FEMS microbiology ecology1 mentions
- 2025Electrochemical selection of a CFTR-specific aptamer and design of a COF-based aptasensor for the diagnosis of cystic fibrosis.Nanoscale1 mentions
- 2025A review on clinical implications of S100 proteins in lung diseases.Frontiers in medicine1 mentions
- 2025Novel insight into CFTR gene's single nucleotide variants classification via in-silico analysis of a conserved site.Journal of computer-aided molecular design1 mentions
- 2024Case Report: Gastrointestinal Basidiobolomycosis in a Young Girl with Cystic Fibrosis and Celiac Disease.The American journal of tropical medicine and hygiene1 mentions
- 2024Biofilm-mediated infections by multidrug-resistant microbes: a comprehensive exploration and forward perspectives.Archives of microbiology1 mentions
- 2024What is cystic fibrosis screen positive inconclusive diagnosis? And what is it not?Archives of disease in childhood. Education and practice edition1 mentions
- 2024Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.Saudi medical journal1 mentions
- 2024Integrating 16S rRNA profiling and in-silico analysis for an epitope-based vaccine strategy against Achromobacter xylosoxidans infection.International immunopharmacology1 mentions
- 2024Neonatal Calcinosis Cutis After Treatment of Hypocalcemia with Calcium Gluconate: A Report of 2 Cases.The American journal of case reports1 mentions
- 2024Wood's light as a noval diagnostic tool in aquagenic keratoderma.Skin health and disease1 mentions
- 2024The association between cystic fibrosis-related diabetes and periodontitis in adults: A pilot cross-sectional study.PloS one1 mentions
- 2024Clinical outcomes after liver transplant in people with cystic fibrosis: A systematic review and meta-analysis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society1 mentions
- 2024Obstetric and neonatal outcomes among pregnant patients with cystic fibrosis.European journal of obstetrics, gynecology, and reproductive biology1 mentions
- 2024Silibinins and curcumin as promising ligands against mutant cystic fibrosis transmembrane regulator protein.AMB Express1 mentions
- 2024Definitions of pulmonary exacerbation in people with cystic fibrosis: a scoping review.BMJ open respiratory research1 mentions
- 2024Evaluating the correspondence between the EQ-5D-5L and disease severity and quality of life in adults and adolescents with cystic fibrosis.Respiratory medicine and research1 mentions
- 2024Identification of novel natural compounds against CFTR p.Gly628Arg pathogenic variant.AMB Express1 mentions
- 2024Identifying disparities in pediatric cystic fibrosis care between low-middle and middle-high income countries in the Middle East.Respiratory medicine1 mentions
- 2024TRPV4 Channel Modulators as Potential Drug Candidates for Cystic Fibrosis.International journal of molecular sciences1 mentions
- 2024Assessment of Oral Hygiene and Gingivitis in Adolescents With and Without Cystic Fibrosis.Pediatric dentistry1 mentions
- 2024Characterization and Comparative Genomic Analysis of vB_BceM_CEP1: A Novel Temperate Bacteriophage Infecting Burkholderia cepacia Complex.Journal of microbiology (Seoul, Korea)1 mentions
- 2023The role of CFTR channel in female infertility.Human fertility (Cambridge, England)1 mentions
- 2023Treatment of dental and orthodontic complications in thalassaemia.The Cochrane database of systematic reviews1 mentions
- 2023Lung Function Decline in Cystic Fibrosis: Impact of Data Availability and Modeling Strategies on Clinical Interpretations.Annals of the American Thoracic Society1 mentions
- 2023Periodontitis Risk Factors in Adults with Cystic Fibrosis: A pilot study.Journal of dental hygiene : JDH1 mentions
- 2023Metabolic pathways that permit Mycobacterium avium subsp. hominissuis to transition to different environments encountered within the host during infection.Frontiers in cellular and infection microbiology1 mentions
- 2023A comprehensive review of cystic fibrosis in Africa and Asia.Saudi journal of biological sciences1 mentions
- 2023Cystic fibrosis survival outcomes following second lung transplant: The north American experience.Clinical transplantation1 mentions
- 2023Compounding Achromobacter Phages for Therapeutic Applications.Viruses1 mentions
- 2023Neuropsychiatric adverse effects from CFTR modulators deserve a serious research effort.Current opinion in pulmonary medicine1 mentions
- 2023Recent advances in proteomic-based diagnostics of cystic fibrosis.Expert review of proteomics1 mentions
- 2023Macrophage activation syndrome induced by Staphylococcus Epidermidis in a pediatric patient with cystic fibrosis and familial Mediterranean fever.Saudi medical journal1 mentions
- 2023Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants: A retrospective study on the western and southern regions of Saudi Arabia.Saudi medical journal1 mentions
- 2023Development of Biocompatible Ga2(HPO4)3 Nanoparticles as an Antimicrobial Agent with Improved Ga Resistance Development Profile against Pseudomonas aeruginosa.Antibiotics (Basel, Switzerland)1 mentions
- 2022A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.Journal of medical genetics1 mentions
- 2022Role of Salivary Biomarkers in Cystic Fibrosis: A Systematic Review.BioMed research international1 mentions
- 2022CFTR protein quantification as a cystic fibrosis diagnostic biomarker in dried blood spots using multiple reaction monitoring tandem mass spectrometry.Journal of pharmaceutical and biomedical analysis1 mentions
- 2022Discovering Common Pathophysiological Processes between COVID-19 and Cystic Fibrosis by Differential Gene Expression Pattern Analysis.BioMed research international1 mentions
- 2022The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine1 mentions
- 2022Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.International journal of pediatrics & adolescent medicine1 mentions
- 2022Three Complex alleles associated with N1303K mutation and their molecular consequences.Cellular and molecular biology (Noisy-le-Grand, France)1 mentions
- 2022Exploring the impact of elexacaftor-tezacaftor-ivacaftor treatment on opinions regarding airway clearance techniques and nebulisers: TEMPO a qualitative study in children with cystic fibrosis, their families and healthcare professionals.BMJ open respiratory research1 mentions
- 2022Phytantriol-Based Berberine-Loaded Liquid Crystalline Nanoparticles Attenuate Inflammation and Oxidative Stress in Lipopolysaccharide-Induced RAW264.7 Macrophages.Nanomaterials (Basel, Switzerland)1 mentions
- 2022Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society1 mentions
- 2021Coumaronochromone as antibacterial and carbonic anhydrase inhibitors from Aerva persica (Burm.f.) Merr.: experimental and first-principles approaches.Zeitschrift fur Naturforschung. C, Journal of biosciences1 mentions
- 2021Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function.Journal of proteome research1 mentions
- 2021Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function.Metabolomics : Official journal of the Metabolomic Society1 mentions
- 2021A dyadic approach to the delineation of diagnostic entities in clinical genomics.American journal of human genetics1 mentions
- 2021Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.International journal of pediatrics & adolescent medicine1 mentions
- 2021Untreated dental disease and lung transplant waitlist evaluation time for individuals with cystic fibrosis.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry1 mentions
- 2021Defining the role of CFTR channel blocker and ClC-2 activator in DNBS induced gastrointestinal inflammation.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society1 mentions
- 2021Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child.Endocrinology, diabetes & metabolism case reports1 mentions
- 2020International perspectives on the implementation of reproductive carrier screening.Prenatal diagnosis1 mentions
- 2020A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance.Nature medicine1 mentions
- 2020Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.Annals of Saudi medicine1 mentions
- 2020European Position Paper on Rhinosinusitis and Nasal Polyps 2020.Rhinology1 mentions
- 2020The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia.International journal of pediatrics & adolescent medicine1 mentions
- 2020Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis.Journal of proteome research1 mentions
- 2020Cystic fibrosis knowledge and practice among primary care physicians in southwest region, Saudi Arabia.Journal of family medicine and primary care1 mentions
- 2020Cystic Fibrosis: Overview of the Current Development Trends and Innovative Therapeutic Strategies.Pharmaceutics1 mentions
- 2020Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.Annals of Saudi medicine1 mentions
- 2020Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.International journal of molecular sciences1 mentions
- 2019The role of small intestinal bacterial overgrowth in cystic fibrosis: a randomized case-controlled clinical trial with rifaximin.Journal of gastroenterology1 mentions
- 2019Controlled attenuation parameter: A measure of hepatic steatosis in patients with cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society1 mentions
- 2019Exome sequencing of Saudi Arabian patients with ADPKD.Renal failure1 mentions
- 2018Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes.Biosensors & bioelectronics1 mentions
- 2018NOD-like receptor(s) and host immune responses with Pseudomonas aeruginosa infection.Inflammation research : official journal of the European Histamine Research Society ... [et al.]1 mentions
- 2018Tracking Polymicrobial Metabolism in Cystic Fibrosis Airways: Pseudomonas aeruginosa Metabolism and Physiology Are Influenced by Rothia mucilaginosa-Derived Metabolites.mSphere1 mentions
- 2018Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins.Biosensors & bioelectronics1 mentions
- 2018Genetic Determinants Associated With in Vivo Survival of Burkholderia cenocepacia in the Caenorhabditis elegans Model.Frontiers in microbiology1 mentions
- 2018Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform.Biosensors & bioelectronics1 mentions
- 2018Burkholderia cepacia complex outbreaks among non-cystic fibrosis patients in the intensive care units: A review of adult and pediatric literature.Le infezioni in medicina1 mentions