Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

The KMDB/MutationView: a mutation database for human disease genes.

S Minoshima¹, S Mitsuyama, M Ohtsubo

¹Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan.

Nucleic Acids Research

|January 11, 2000

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Measurement of differential cross-sections of a single top quark produced in association with a <i>W</i> boson at <math> </math> with ATLAS.

The European physical journal. C, Particles and fields·2019

Same author

Search for the direct production of charginos and neutralinos in final states with tau leptons in <math> </math> <i>pp</i> collisions with the ATLAS detector.

The European physical journal. C, Particles and fields·2019

Same author

Measurement of quarkonium production in proton-lead and proton-proton collisions at <math></math> with the ATLAS detector.

The European physical journal. C, Particles and fields·2019

Same author

Measurement of longitudinal flow decorrelations in Pb+Pb collisions at <math> </math> and 5.02 TeV with the ATLAS detector.

The European physical journal. C, Particles and fields·2019

Same author

Measurement of <math></math> polarisation in <math></math> decays in proton-proton collisions at <math> </math> TeV with the ATLAS detector.

The European physical journal. C, Particles and fields·2019

Same author

Search for dark matter produced in association with bottom or top quarks in <math> </math> TeV <i>pp</i> collisions with the ATLAS detector.

The European physical journal. C, Particles and fields·2019

The KMDB/MutationView database offers a graphical interface to explore mutations in human disease genes. It categorizes data for 87 diseases across nine areas, aiding genetic research.

Area of Science:

Genetics
Bioinformatics
Medical Databases

Background:

Human genetic mutations are key to understanding disease.
Comprehensive mutation data is crucial for research and diagnostics.
Existing databases may lack specific features or comprehensive coverage.

Purpose of the Study:

To present the KMDB/MutationView, a graphical database for human disease gene mutations.
To organize and provide access to mutation data for a wide range of diseases.
To facilitate the study of genotype-phenotype correlations in genetic disorders.

Main Methods:

Development of a graphical database (KMDB/MutationView).
Categorization of mutation data into nine disease-specific sub-databases.

Related Experiment Videos

Inclusion of mutation data for 97 genes linked to 87 distinct diseases.

Main Results:

The KMDB/MutationView database is established and accessible online.
It encompasses nine categories: eye, heart, ear, brain, cancer, syndrome, autoimmunity, muscle, and blood diseases.
The database contains mutation data for 97 genes associated with 87 diseases.

Conclusions:

KMDB/MutationView provides a valuable, categorized resource for human mutation data.
The graphical interface aids in visualizing and analyzing mutation information.
This database supports research into genetic diseases and potential therapeutic targets.