Online Mendelian Inheritance in Man (OMIM):
What it is & What it can do for you
Knowledge Management & Eskind Biomedical Library
January 27, 2012
helen naylor
helen.naylor@vanderbilt.edu
936.3103
Objectives
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Quick review of Central Dogma
◦ Define terms

Familiarize with OMIM:
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Gene record
Phenotype record
Additional features
Links to other databases/resources
Central Dogma of Biology…
Flow of genetic information
DNA
RNA
transcription
Genotype
Protein
translation
Phenotype
Genes & Genetic concepts…
Gene: A hereditary unit consisting of a
sequence of DNA that occupies a
specific location on a chromosome and
determines a particular characteristic in
an organism.
 Genetics: the study of single genes
 Genome: all the genetic information of an organism
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Alleles
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Allele: One of two or more forms of a gene
2 copies of each gene
◦ One from mom; one from dad
◦ If they are the same, homozygous
◦ If different, heterozygous
Homozygote
HH
HH
HH
HH
Heterozygote
HH
hh
Hh
Hh
Genotype & Phenotype

Genotype
◦ Genetic constitution of an individual
◦ Specific allele make up of an individual

Phenotype
◦ Expression of the genotype
◦ Individual's observable traits
◦ Hair color, eye color, height
Central Dogma of Biology
DNA (genotype)
transcription
RNA
translation
Protein (phenotype)
Epigenetics
 Errors in DNA sequence

◦ SNP (small nucleotide polymorphisms)
◦ CNV (copy number variations)
Enzyme issues (missing, mistakes)
 Splicing issues
 Protein amino acid substitutions

◦ Incomplete translation
◦ Incorrectly folded protein
◦ Reduced/no function
Online Mendelian Inheritance in
Man® (OMIM®)


A catalog of human genes and genetic disorders
Curated database containing descriptions of relationship
between phenotypes, their genes, and variations including
◦ Small Nucleotide Polymorphisms (SNPs)
◦ Copy number variations (CNVs)


Maintained at Johns Hopkins University
Updated daily
OMIM®

Two types of entries:
◦ phenotype entries
◦ gene entries
 Selected allelic variants are included in gene entries—
Those contributing to a disease, with a high frequency,
a distinctive phenotype, or some other clinical significance
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Each entry is assigned a six digit number, usually preceded by a
symbol which indicates the type of record
Records contain useful links to various databases including gene,
protein and clinical resources
Search by gene, disease, primary symptom, drug…
OMIM®
OMIM via NCBI
(http://www.ncbi.nlm.nih.gov/omim)
Screenshot from NCBI OMIM. http://www.ncbi.nlm.nih.gov/omim. Accessed 1/11/2012.
OMIM.org
http://www.omim.org/
OMIM® Homepage: http://omim.org/
Office Hours
Tuesday’s at EBL in Room 124
2-4pm
helen naylor
helen.naylor@vanderbilt.edu
936.3103
Thank you!