rare disease phenotype

Aliases: rare disease

Evidence from: primary | all sources

Related entities (3)

Subject	Relation	Object	p-value	Evidence
case-control sample	associated_with	rare disease	—	1
de novo variant	associated_with	rare disease	—	1
study cohort	associated_with	rare disease	—	1

Mentioned in (22)

Papers in which this entity is mentioned.

Artificial Intelligence agents for biological research: a survey. (2026)
Biomni: A General-Purpose Biomedical AI Agent. (2025)
Single-cell RNA-seq data augmentation using generative Fourier transformer. (2025)
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods. (2024)
The Human Phenotype Ontology in 2024: phenotypes around the world. (2024)
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme. (2024)
Human Retrotransposons and Effective Computational Detection Methods for Next-Generation Sequencing Data. (2022)
Variant interpretation using population databases: Lessons from gnomAD. (2022)
The mutational constraint spectrum quantified from variation in 141,456 humans. (2020)
The mutational constraint spectrum quantified from variation in 141,456 humans (2019)
The GenomeAsia 100K Project enables genetic discoveries across Asia. (2019)
Detection of circulating tumour DNA is associated with inferior outcomes in Ewing sarcoma and osteosarcoma: a report from the Children's Oncology Group. (2018)
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
The impact of structural variation on human gene expression. (2017)
A global reference for human genetic variation. (2015)
Orchestrating high-throughput genomic analysis with Bioconductor. (2015)
A global reference for human genetic variation. (2015)
Guidelines for investigating causality of sequence variants in human disease. (2014)
Gene-environment interactions in cancer epidemiology: a National Cancer Institute Think Tank report. (2013)
An integrated encyclopedia of DNA elements in the human genome. (2012)
The genetic interpretation of area under the ROC curve in genomic profiling. (2010)
Gene--environment-wide association studies: emerging approaches. (2010)

Merged raw entities (2)

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
rare disease	phenotype	16	25
rare diseases	phenotype	9	11