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OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

Bottom Line: Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.All OMIM data are available for FTP download and through an API.MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

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OMIM entry for protein O-mannosyltransferase 1 (607423). Arrows call attention to the following: the unique MIM number 607423 with an asterisk prefix denoting a gene. Approved gene symbol obtained directly from the Human Gene Nomenclature Committee data. Cytogenetic location and Genomic coordinates obtained from NCBI. Gene–phenotype relationships table showing allelic disorders, their MIM numbers, and the phenotype mapping key. The Table of Contents (TOC) facilitates navigation within the OMIM entry, and external resource links specific for the gene are topically organized and listed below the TOC.
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Figure 2: OMIM entry for protein O-mannosyltransferase 1 (607423). Arrows call attention to the following: the unique MIM number 607423 with an asterisk prefix denoting a gene. Approved gene symbol obtained directly from the Human Gene Nomenclature Committee data. Cytogenetic location and Genomic coordinates obtained from NCBI. Gene–phenotype relationships table showing allelic disorders, their MIM numbers, and the phenotype mapping key. The Table of Contents (TOC) facilitates navigation within the OMIM entry, and external resource links specific for the gene are topically organized and listed below the TOC.

Mentions: Gene entries in OMIM are distinguished by an asterisk before the MIM number. A small (91) but diminishing number of entries are combined gene and phenotypes and have a plus sign before the MIM number. Gene entries describe protein-coding genes, regulatory elements, micro-RNAs, non-coding RNAs and other functional elements as they are recognized (Figure 2). Discussion in these entries may include information on gene structure, isoforms, expression, function, crystal structure, molecular genetics, imprinting, methylation and animal models. Many entries have markup language and unique text elements to tag specific information and link it to resources (e.g. MIM numbers, sequence accession numbers, dbSNP numbers (2)). If there are variants in the human gene that lead to a phenotype, the gene will have an AV section, which includes only selected variants as described below.


OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders.

Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A - Nucleic Acids Res. (2014)

OMIM entry for protein O-mannosyltransferase 1 (607423). Arrows call attention to the following: the unique MIM number 607423 with an asterisk prefix denoting a gene. Approved gene symbol obtained directly from the Human Gene Nomenclature Committee data. Cytogenetic location and Genomic coordinates obtained from NCBI. Gene–phenotype relationships table showing allelic disorders, their MIM numbers, and the phenotype mapping key. The Table of Contents (TOC) facilitates navigation within the OMIM entry, and external resource links specific for the gene are topically organized and listed below the TOC.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4383985&req=5

Figure 2: OMIM entry for protein O-mannosyltransferase 1 (607423). Arrows call attention to the following: the unique MIM number 607423 with an asterisk prefix denoting a gene. Approved gene symbol obtained directly from the Human Gene Nomenclature Committee data. Cytogenetic location and Genomic coordinates obtained from NCBI. Gene–phenotype relationships table showing allelic disorders, their MIM numbers, and the phenotype mapping key. The Table of Contents (TOC) facilitates navigation within the OMIM entry, and external resource links specific for the gene are topically organized and listed below the TOC.
Mentions: Gene entries in OMIM are distinguished by an asterisk before the MIM number. A small (91) but diminishing number of entries are combined gene and phenotypes and have a plus sign before the MIM number. Gene entries describe protein-coding genes, regulatory elements, micro-RNAs, non-coding RNAs and other functional elements as they are recognized (Figure 2). Discussion in these entries may include information on gene structure, isoforms, expression, function, crystal structure, molecular genetics, imprinting, methylation and animal models. Many entries have markup language and unique text elements to tag specific information and link it to resources (e.g. MIM numbers, sequence accession numbers, dbSNP numbers (2)). If there are variants in the human gene that lead to a phenotype, the gene will have an AV section, which includes only selected variants as described below.

Bottom Line: Clinical synopsis features are enhanced with UMLS, Human Phenotype Ontology and Elements of Morphology terms and image links.All OMIM data are available for FTP download and through an API.MIMmatch is a novel outreach feature to disseminate updates and encourage collaboration.

View Article: PubMed Central - PubMed

Affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA joanna@peas.welch.jhu.edu.

Show MeSH