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Table 2 The databases studied

From: Difficulties in finding DNA mutations and associated phenotypic data in web resources using simple, uncomplicated search terms, and a suggested solution

Database

URL

Description

HGMD--Human Gene Mutation

Database (open access content)

http://www.hgmd.org

Established for the study of mutational

mechanisms in human genes and provides

information of practical diagnostic

importance

OMIM--Online Mendelian Inheritance

in Man

http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim

Comprehensive collection of human genes

and genetic phenotypes with information on

all known Mendelian disorders

dbSNP--NCBI Single Nucleotide

Polymorphism [10]

http://www.ncbi.nlm.nih.gov/projects/SNP/

Established to serve as a central repository

both for single base nucleotide substitutions

and for short deletion and insertion

polymorphisms

MutDB--Structurally Annotated

Mutation Data

http://mutdb.org/

Annotation of human variation data with

protein structural information and other

functionally relevant information

MutView--Mutation View

http://mutview.dmb.med.keio.ac.jp/MutationView/jsp/mutview/index.jsp

Developed by the Keio University School of

Medicine in collaboration with Chi Co., Ltd.

dbGaP--NCBI Genotypes and

Phenotypes [11]

http://www.ncbi.nlm.nih.gov/gap

Developed to archive/distribute results of

studies investigating the interaction of

genotype/phenotype

GeneRev--GeneReviews

http://www.genereviews.org

Expert-authored, peer-reviewed, current

genetic disease descriptions

GeneCards

http://www.genecards.org/

Searchable, integrated database of human

genes

UniProt--Universal Protein Resource

http://www.uniprot.org/

A comprehensive, high-quality and freely

accessible resource of protein sequence and

functional information

GDB--Human Genome Database

http://www.gdb.org

A community-curated collection of human

genomic data. No longer operational

Ensembl

http://www.ensembl.org/index.html

Software system which produces and

maintains automatic annotation on selected

eukaryotic genomes

DGV--Database of Genomic Variants

http://projects.tcag.ca/variation/

Comprehensive summary of structural

variation in the human genome

PAHdb--Phenylalanine Hydroxylase

Locus Knowledgebase

http://www.pahdb.mcgill.ca

Maintains and centralises mutation data on

the PAH gene

InSiGHT--LOVD (Leiden Open

Variation Database)

http://www.insight-group.org/lovd.html

International organisation aiming to improve

quality of care for patients with hereditary

gastrointestinal tumours

BIC--Open Access On-Line Breast

Cancer Mutation Data Base

http://research.nhgri.nih.gov/bic/

Maintains a central repository for

information regarding mutations and

polymorphisms in breast cancer

susceptibility genes