Mendelian diseases phenotype
Evidence from:
primary |
all sources
Related entities (1)
| Subject | Relation | Object | p-value | Evidence |
|---|---|---|---|---|
| rare variant | risk_factor_for | Mendelian diseases | — | 1 |
Mentioned in (8)
Papers in which this entity is mentioned.
- Yield of genetic association signals from genomes, exomes and imputation in the UK Biobank. (2024)
- dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs. (2020)
- The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
- The human gene damage index as a gene-level approach to prioritizing exome variants. (2015)
- ACMG clinical laboratory standards for next-generation sequencing. (2013)
- Genic intolerance to functional variation and the interpretation of personal genomes. (2013)
- Meta-analysis and genome-wide interpretation of genetic susceptibility to drug addiction. (2011)
- FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. (2006)
Merged raw entities (1)
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 |
|---|---|---|---|
| mendelian diseases | phenotype | 8 | 10 |