Description Usage Format Details References Examples
Entrez identifiers for several lists of genes related with human disease.
diseaseIds
contains the Entrez identifiers corresponding to disease-related genes found in the OMIM database. This list has been manually curated by Nuria Lopez-Bigas et al. who kindly provided it to us.
morbidmapIds
contains the Entrez identifiers for all the genes in the morbidmap table. This list would correspond to disease-related genes if there had been no manual curation, as in the previous list ('diseaseIds').
dominantIds
ontains the Entrez identifiers for dominant genes after manual curation by Nuria Lopez-Bigas who has kindly allowed us to include them in the package.
recessiveIds
contains the Entrez identifiers for recessive genes after manual curation by Nuria Lopez-Bigas who has kindly allowed us to include them in the package.
dominantIdsEBI
contains the Entrez identifiers for dominant genes in the EBI version of the OMIM database recovered using SRS with the term 'dominant' in the KEYWORDS field.
recessiveIdsEBI
contains the Entrez identifiers for recessive genes in the EBI version of the OMIM database recovered using SRS with the term 'recessive' in the KEYWORDS field.
dominantIdsNCBI
contains the Entrez identifiers for dominant genes in the NCBI version of the OMIM database recovered using ENTREZ with the term 'dominant' in the CLINICAL field.
recessiveIdsNCBI
contains the Entrez identifiers for recessive genes in the NCBI version of the OMIM database recovered using ENTREZ with the term 'recessive' in the CLINICAL field.
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Each dataset is a character vector with a different number of elements which (should) correspond to valid Entrez identifiers
Lopez-Bigas et al. analyzed the distribution of functional categories in genes causing disease in human.
They did several comparisosn which can also be done using goProfiles
. In order to perform these comparisons
we first tried to obtain the same lists of genes using standard database browsers, such as 'SRS', at the European Bioinformatics Institute, or 'Entrez', at the National Center for Biotechnological Information. Curiously both approaches provided very different lists so we asked the authors for their data and they kindly provided them to us. In order to facilitat the use of functions included in goProfiles
we have trimmed the list of recessive and dominant genes so that (i) They become exclussive (no gene belows to both lists) (2) They are both included in the diseaseIds
list. This eliminated 39 genes (out of 639) from the list of recessive genes and 52 genes (out of 414) from the list of dominant genes
Lopez-Bigas, N., Blencowe, B.J. and Ouzounis, C.A., Highly consistent patterns for inherited human diseases at the molecular level, Bioinformatics, 2006, 22 (3), 269-277.
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