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OMIM specifications


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


  • Primates
    • Homo sapiens



  • person_outline Joan S. Amberger

Publications for Online Mendelian Inheritance in Man

OMIM citations


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

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 […]


Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

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 (, OMIM (, Uniprot ( and HGMD ( Variants with cutoff values greater than 0.6 in the dbscSNV database were defined as splice-altering. Other s […]


VAReporter: variant reporter for cancer research of massive parallel sequencing

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 […]


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

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

[…] aster: http://www.ncbi.nlm.nih.govNetGene 2 Server: 3: http […]


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

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

[…] e and Phenotype in Humans Using Ensembl Resources [].Database of Genomic Variants [].NCBI Gene Database [].Online Mendelian Inheritance in Man [].Primer3 (v. 0.4.0) []. […]


New perspectives: systems medicine in cardiovascular disease

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 […]


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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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