Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

UMD-CFTR: a database dedicated to CF and CFTR-related disorders.

Human mutation - 1 Sept 2010

Bareil Corinne, Thèze Corinne, Béroud Christophe, Hamroun Dalil, Guittard Caroline, René Céline, Paulet Damien, Georges Marie des, Claustres Mireille

Abstract excerpt

With the increasing knowledge of cystic fibrosis (CF) and CFTR-related diseases (CFTR-RD), the number of sequence variations in the CFTR gene is constantly raising. CF and particularly CFTR-RD provide a particular challenge because of many unclassified variants and identical genotypes associated with different phenotypes. Using the Universal Mutation Database (UMD) software we have constructed UMD-CFTR (freely...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cystic Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cystic Fibrosis Transmembrane Conductance Regulator

Share to Databases, Genetic

Share to Haplotypes

Share to Introns

Share to Mutation

Source

Identifiers

PMID: 20607857
DOI: 10.1002/humu.21316

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

UMD-CFTR: a database dedicated to CF and CFTR-related disorders.PMID 20607857Read ↗

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.Semantic proximity Read ↗

Variant classifications, databases and genotype-phenotype correlations.Semantic proximity Read ↗

Carrier frequency of CFTR variants in the non-Caucasian populations by genome aggregation database (gnomAD)-based analysis.Semantic proximity Read ↗

Evaluation of the disease liability of CFTR variants.Semantic proximity Read ↗

The novel CFTR haplotype E583G/F508del in CFTR-related disorder.Semantic proximity Read ↗

CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read ↗

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico toolsSemantic proximity Read ↗

CFTR gene variants, epidemiology and molecular pathology.Semantic proximity Read ↗

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.Semantic proximity Read ↗

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.Semantic proximity Read ↗

A comprehensive CFTR mutation analysis of German cystic fibrosis patients.Semantic proximity Read ↗

Diversity of<i>CFTR</i>variants across ancestries characterized using 454,727 UK biobank whole exome sequencesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.