CFTR gene
Evidence from:
primary |
all sources
Related entities (3)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| CFTR | associated_with | CNV | — | 1 |
| CFTR | risk_factor_for | cystic fibrosis | — | 1 |
| CFTR | associated_with | cystic fibrosis | — | 2 |
Mentioned in (11)
Papers in which this entity is mentioned.
- CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
- The Application of Long-Read Sequencing to Cancer. (2024)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- CTCF as a multifunctional protein in genome regulation and gene expression. (2015)
- Candidate gene-environment interaction research: reflections and recommendations. (2015)
- Exon identity crisis: disease-causing mutations that disrupt the splicing code. (2014)
- An Interdisciplinary Approach to Studying Gene-Environment Interactions: From Twin Studies to Gene Identification and Back. (2011)
- Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
- Splicing factor SFRS1 recognizes a functionally diverse landscape of RNA transcripts. (2009)
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
- Accurate and reliable high-throughput detection of copy number variation in the human genome. (2006)
Merged raw entities (3)
All extracted name/type variants the normalize job merged into this entity. Use this to spot wrong merges, or aliases that should be split off.
| Raw name | Type | Papers | Mentions |
|---|---|---|---|
| cftr | gene | 11 | 18 |
| cystic fibrosis gene | gene | — | — |
| cystic fibrosis transmembrane conductance regulator | gene | — | — |