cystic fibrosis phenotype
Evidence from:
primary |
all sources
Related entities (5)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| CFTR | risk_factor_for | cystic fibrosis | — | 1 |
| CFTR | associated_with | cystic fibrosis | — | 2 |
| cystic fibrosis | associated_with | Huntington’s disease | — | 1 |
| mutations | risk_factor_for | cystic fibrosis | — | 1 |
| rare variant | risk_factor_for | cystic fibrosis | — | 1 |
Mentioned in (29)
Papers in which this entity is mentioned.
- Evidence and Perspectives for Choline Supplementation during Parenteral Nutrition-A Narrative Review. (2024)
- 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)
- Sleep problems among children with Fetal Alcohol Spectrum Disorders (FASD)- an explorative study. (2021)
- Incorporating Functional Genomic Information to Enhance Polygenic Signal and Identify Variants Involved in Gene-by-Environment Interaction for Young Adult Alcohol Problems. (2018)
- 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)
- Zebrafish models of human liver development and disease. (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)
- An Interdisciplinary Approach to Studying Gene-Environment Interactions: From Twin Studies to Gene Identification and Back. (2011)
- Gene set analysis of genome-wide association studies: methodological issues and perspectives. (2011)
- Expanding the range of ZNF804A variants conferring risk of psychosis. (2011)
- Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA. (2011)
- "CRASH"ing with the worm: insights into L1CAM functions and mechanisms. (2010)
- Statistical analysis strategies for association studies involving rare variants. (2010)
- Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. (2009)
- A groupwise association test for rare mutations using a weighted sum statistic. (2009)
- In utero ethanol exposure impairs defenses against experimental group B streptococcus in the term Guinea pig lung. (2009)
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
- FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. (2006)
- SNPs3D: candidate gene and SNP selection for association studies. (2006)
- Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. (2005)
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 | — | — |