OMIM statistics

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Protocols

OMIM specifications

Information


Unique identifier OMICS_00278
Name OMIM
Alternative names Online Mendelian Inheritance in Man, OMIM.org, OMIM®
Restrictions to use None
Community driven No
Data access File download, Browse, Application programming interface
User data submission Not allowed
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Documentation


Maintainer


  • person_outline Joan S. Amberger

Publications for Online Mendelian Inheritance in Man

OMIM citations

 (751)
call_split

Case Report: Identification of an HNF1B p.Arg527Gln mutation in a Maltese patient with atypical early onset diabetes and diabetic nephropathy

2018
PMCID: 5952643
PMID: 29764441
DOI: 10.1186/s12902-018-0257-z
call_split See protocol

[…] to variants located in genes implicated in atypical non-autoimmune forms of diabetes and early-onset obesity. The prioritized candidate gene list was obtained by reviewing publications in PubMed and OMIM. Analysis focused on non-synonymous coding variants, frameshift indels, and variants affecting splice sites, as these are most likely to be pathogenic. Non-exonic and synonymous variants were exc […]

library_books

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

2018
PMCID: 5944100
PMID: 29743074
DOI: 10.1186/s12931-018-0789-9

[…] cluded results from SIFT, Ployphen-2, MutationTaster, the dbscSNV database. In addition, the clinical significance of the sequences was annotated using Clinvar (http://www.ncbi.nlm.nih.gov/clinvar/), OMIM (http://omim.org/), Uniprot (http://www.uniprot.org/) and HGMD (http://www.hgmd.org). Variants with cutoff values greater than 0.6 in the dbscSNV database were defined as splice-altering. Other s […]

library_books

VAReporter: variant reporter for cancer research of massive parallel sequencing

2018
BMC Genomics
PMCID: 5954270
PMID: 29764369
DOI: 10.1186/s12864-018-4468-5

[…] st of support formats with respect to single and paired samples. A wide variety of biomedical databases, including dbSNP [], 1000 Genomes [], COSMIC, the Cancer Gene Census [], dbNSFP [], Clinvar [], OMIM [], RefSeq [], UniProt [], Pfam [], GO [], KEGG [], DrugBank [], the DGIdb [] and the Human Gene Mutation Database [] (HGMD), were compiled as local annotation databases to facilitate the interpr […]

library_books

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing impaired subjects

2018
BMC Med Genet
PMCID: 5941635
PMID: 29739340
DOI: 10.1186/s12881-018-0585-x

[…] aster: http://www.mutationtaster.org.NCBI: http://www.ncbi.nlm.nih.govNetGene 2 Server: http://www.cbs.dtu.dk/services/NetGene2NNSPLICE: http://www.fruitfly.org/seq_tools/splice.htmlOMIM: https://www.omim.org/entry/274600Picard: http://broadinstitute.github.io/picard/PolyPhen2: http://genetics.bwh.harvard.edu/pph2/PRIMER 3: http://bioinfo.ut.ee/primer3-0.4.0/.SIFT: http://sift.jcvi.org/.UCSC: http […]

library_books

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32 q13.33 and mosaic monosomy 22

2018
PMCID: 5923029
PMID: 29736186
DOI: 10.1186/s13039-018-0375-3

[…] e and Phenotype in Humans Using Ensembl Resources [http://decipher.sanger.ac.uk].Database of Genomic Variants [http://projects.tcag.ca/variation].NCBI Gene Database [http://www.ncbi.nlm.nih.gov/gene].Online Mendelian Inheritance in Man [http://omim.org].Primer3 (v. 0.4.0) [http://frodo.wi.mit.edu/primer3]. […]

call_split

New perspectives: systems medicine in cardiovascular disease

2018
BMC Syst Biol
PMCID: 5921396
PMID: 29699591
DOI: 10.1186/s12918-018-0579-5
call_split See protocol

[…] nt pathway databases are Reactome [], the Network Data Exchange (NDEx) [], the Kyoto Encyclopedia of Genes and Genomes (KEGG) [], and WikiPathways [] as well as disease-specific databases such as the Online Mendelian Inheritance in Man (OMIM) resource []. Databases focusing on molecular interactions include BioGRID [], IntAct [] and STRING []. Further knowledge sources include drug-target database […]

Citations

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OMIM institution(s)
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
OMIM funding source(s)
Supported by the National Institutes of Health [NHGRI 1U41HG006627].

OMIM review

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Prateek Gupta

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Dataset
I am a frequent user of OMIM. I sometimes feel problem in retrieving data about the disease but OMIM is providing full support in my research.