Human - Mouse: Disease Connection
The Human - Mouse: Disease Connection (HMDC) is designed to facilitate the identification of published and potential mouse models of human disease, the discovery of candidate genes and the investigation of phenotypic similarity between mouse models and human patients.
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Example searches:
Disease,
Region and Phenotype,
Multiple Genes
Downloads and Useful Links
Download Links:
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Mouse Genotypes with both Phenotype and Disease Annotations for Marker Type Genes, excluding conditional mutations
- Tab-delimited: Allelic Composition, Allele symbol(s), Allele ID(s), Genetic background, MP ID, PubMed ID, MGI Marker ID, DO ID
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Mouse Genotypes with both Phenotype and Negated Disease Annotations for Marker Type Genes, excluding conditional mutations
- Tab-delimited: Allelic Composition, Allele symbol(s), Allele ID(s), Genetic background, MP ID, PubMed ID, MGI Marker ID, DO ID
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Associations of Human and Mouse Genes with DO Diseases
- Tab-delimited: DO Disease ID, DO Disease Name, HomoloGene ID, Common Organism Name, NCBI Taxon ID, Symbol, EntrezGene ID, Mouse MGI ID
- All downloads for Alleles and Phenotypes
Useful Links:
- Matchmaker Exchange: Genomic discovery through the exchange of phenotypic and genotypic profiles
- Human Phenotype Ontology (HPO) home: HPO provides a standardized vocabulary of phenotypic abnormalities encountered in human disease
- Human Phenotype Ontology annotation download: Latest version of the HPO annotation file (phenotype_annotation.tab) used as the source of human disease to phenotype relationships
- Disease Ontology (DO): The DO is a community effort to provide standard disease terms for annotating phenotypic data
- ExAC Browser Beta: Exome Aggregation Consortium browser of human exome sequencing data from a wide variety of large-scale sequencing projects