ArticleHuman mutation2012
MouseFinder: Candidate disease genes from mouse phenotype data.
Article in Human mutation, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
33 citing papers in PubMed.
- INDIGENA: inductive prediction of disease-gene associations using phenotype ontologies.Bioinformatics (Oxford, England) · 2026Article
- Prioritizing genomic variants through neuro-symbolic, knowledge-enhanced learning.Bioinformatics (Oxford, England) · 2024Article
- Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches.Kidney international reports · 2021Article
- The role of glial cell line-derived neurotrophic factor family member artemin in neurological disorders and cancers.Cell proliferation · 2020Review
- BioHackathon 2015: Semantics of data for life sciences and reproducible research.F1000Research · 2020Article
- TarGo: network based target gene selection system for human disease related mouse models.Laboratory animal research · 2019Article
- Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes.Bioinformatics (Oxford, England) · 2018Article
- PhenoRank: reducing study bias in gene prioritization through simulation.Bioinformatics (Oxford, England) · 2018Article
- The Human Phenotype Ontology in 2017.Nucleic acids research · 2017Review
- Disease insights through cross-species phenotype comparisons.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Review
- PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.Human mutation · 2015Article
- Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases.Scientific reports · 2015Article
- Automatic concept recognition using the human phenotype ontology reference and test suite corpora.Database : the journal of biological databases and curation · 2015Article
- Finding our way through phenotypes.PLoS biology · 2015Article
- Similarity-based search of model organism, disease and drug effect phenotypes.Journal of biomedical semantics · 2015Article
- Capturing domain knowledge from multiple sources: the rare bone disorders use case.Journal of biomedical semantics · 2015Article
- Mouse model phenotypes provide information about human drug targets.Bioinformatics (Oxford, England) · 2014Article
- The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio.Journal of biomedical semantics · 2014Article
- Linking tissues to phenotypes using gene expression profiles.Database : the journal of biological databases and curation · 2014Article
- Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon.Journal of biomedical semantics · 2014Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Mouse phenotype data represents a valuable resource for the identification of disease-associated genes, especially where the molecular basis is unknown and there is no clue to the candidate gene's function, pathway involvement or expression pattern. However, until recently these data have not been systematically used due to difficulties in mapping between clinical features observed in humans and mouse phenotype annotations. Here, we describe a semantic approach to solve this problem and demonstrate highly significant recall of known disease-gene associations and orthology relationships. A Web application (MouseFinder; www.mousemodels.org) has been developed to allow users to search the results of our whole-phenome comparison of human and mouse. We demonstrate its use in identifying ARTN as a strong candidate gene within the 1p34.1-p32 mapped locus for a hereditary form of ptosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.