Gene-Disorder Association · Article
Gene
CFTR CF Transmembrane Conductance Regulator
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First reported
1989
Supporting publications
1353
Manually curated Approved treatment annotated
Association Review
In brief The association between CFTR (CF Transmembrane Conductance Regulator) and Cystic Fibrosis is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.
Sources
6
Clinical variants
4,705
Symptoms
68
Compounds
8
Trials
116 of 792 via CFTR compounds
Publications
1,353
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 6 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 2 source summaries
A gene summary alongside the source descriptions it was distilled from.
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Cystic Fibrosis
The disorder 15 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 53 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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ClinVar and variant evidence
Genetic basis 4,705 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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Genomic context
Regulatory context 3 regulatory elements
GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.
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Mechanism overlap
Shared mechanisms 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 8 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 792 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 1,353 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 29 references
Every source and publication cited across this dossier, as one numbered reference list.
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