Online Mendelian Inheritance in Man 'OMIM'.

By Sangeeta Amladi. Indian Journal of Dermatology, Venereology and Leprology, 2003

1,132 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/0bb551225ffba717e8c7c94d08b6ab0b7b77c216

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Citations in the corpus

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool (2013, methodology): “The OMIM gene-set library was created directly from the NCBI’s OMIM Morbid Map [41].”
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. (2001, background): “SCN10A / mice have partial deficits in perception of noxious thermal, mechanical, and inflammatory stimuli (Akopian et al. 1999).”
Development of Bioinformatics Infrastructure for Genomics Research in H3Africa (2017, unknown): “…database, including UniProt [UniProt Consortium 2015], dbSNP [Sherry et al., 2001], Ensembl [Hubbard et al., 2002], the Protein Data Bank (PDB) [Berman et al., 2000], Human Genome Nomenclature Committee (HGNC) [Gray et al., 2015], ClinVar [Landrum et al., 2014], and OMIM [Hamosh et al., 2000].”
A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster. (2001, methodology): “Here, we report on results generated by a crossgenomic analysis of the 929 Locuslink entries of human disease genes known to have at least one mutant allele listed in the current version of the Online Mendelian Inheritance in Man (OMIM) (McKusick 2000) against the complete Drosophila genome sequence”
Computational tools for prioritizing candidate genes: boosting disease gene discovery (2012, background): “For instance, Online Mendelian Inheritance in Man (OMIM) is a manually curated knowledge base for genetic disorders with Mendelian inheritance 47,48 .”
Next-generation diagnostics and disease-gene discovery with the Exomiser (2015, methodology): “D <arg>’ where <arg> is an OMIM, Orphanet or DECIPHER disease identifier, e.g., OMIM:101200.”
RefSeq and LocusLink: NCBI gene-centered resources (2001, methodology): “In addition, nucleotide and protein sequences and OMIM records are linked to LocusLink reports via the NCBI LinkOut service.”
Advancing translational research with the Semantic Web (2007, methodology): “Our approach was to collect gene and protein synonyms from a variety of public databases – Entrez Gene, UniProt, OMIM [77], and Enzyme [78].”
The Mammalian Phenotype Ontology as a tool for annotating, analyzing and comparing phenotypic information (2004, methodology): “…commonly used in publications describing phenotype, and have been the basis of electronically accessible phenotypic descriptions (for example, Online Mendelian Inheritance in Man (OMIM) [6] and the Mouse Locus Catalog (MLC) [7], text is unreliable for searching, either manually or computationally.”
BATMAN-TCM: a Bioinformatics Analysis Tool for Molecular mechANism of Traditional Chinese Medicine (2016, methodology): “…annotations of human proteins were from NCBI FTP (version: 20111103), human biological pathway data from KEGG database (version: 20140704) and human gene-disease associations parsed from OMIM (Online Mendelian Inheritance in Man) (downloaded on Mar. 13, 2014) 52 and TTD (version: 4.3.02).”