cystic fibrosis phenotype
Evidence from:
primary |
all sources
Related entities (1)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| CFTR | associated_with | cystic fibrosis | — | 2 |
Mentioned in (12)
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)
- Variant interpretation using population databases: Lessons from gnomAD. (2022)
- A gene-based association method for mapping traits using reference transcriptome data. (2015)
- Spatial reconstruction of single-cell gene expression data. (2015)
- Candidate gene-environment interaction research: reflections and recommendations. (2015)
- Genetic linkage analysis in the age of whole-genome sequencing. (2015)
- Exon identity crisis: disease-causing mutations that disrupt the splicing code. (2014)
- Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
- Dosage transmission disequilibrium test (dTDT) for linkage and association detection. (2013)
- Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. (2012)
- Effects of heavy prenatal alcohol exposure and iron deficiency anemia on child growth and body composition through age 9 years. (2012)
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
Merged raw entities (4)
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 |
|---|---|---|---|
| cystic fibrosis | phenotype | 18 | 25 |
| disease phenotype | phenotype | 11 | 12 |
| cf disease | phenotype | — | — |
| cystic fibrosis phenotype | phenotype | — | — |