Human gene mutation and disease databases

Human gene mutation and disease databases

1.   HGMD

http://www.hgvs.org/
The Human Gene Mutation Database (HGMD) collects published germline mutations associated with human inherited disease. The original article describes its phenotype scope and text-based search using HUGO gene nomenclature.

2.   HGBASE(Gwas central)

http://www.gwascentral.org/
The Human Genic Bi-Allelic Sequences Database (HGBASE) catalogues single-nucleotide polymorphisms and other variants in and around human genes, from promoter to transcription endpoint.

3.   OMIM

http://www.omim.org/
Online Mendelian Inheritance in Man (OMIM) is a catalogue of human genes and related mutations, based on Mendelian Inheritance in Man. It can be used to find disease-associated genes and loci and information on disorders.

4.   KMDB/MutationView
http://mutview.dmb.med.keio.ac.jp/MutationView/jsp/index.jsp
Keio Mutation Databases provides human disease-associated gene mutations covering conditions involving the eye, ear, heart, cancer, autoimmunity, muscle and blood.

5.   KinMutBase

http://bioinf.uta.fi/KinMutBase/
A database of disease-associated mutations in tyrosine kinase regions, with links to other mutation databases.

6.   Atlas Chromosomes in Cancer
http://atlasgeneticsoncology.org
Atlas of Genetics and Cytogenetics provides biological and molecular information about cancer and cancer-predisposition disorders.

7.   dbSNP

http://www.ncbi.nlm.nih.gov/snp/
The NCBI dbSNP resource, developed in collaboration with the National Human Genome Research Institute, covers single-base substitutions and short insertion/deletion polymorphisms.

8.   TGDB

http://www.tumor-gene.org/tgdf.html
The tumor gene family databases (TGDBs) described in the source contain cancer-related genes such as oncogenes and tumor suppressors, including activation, regulation, frequencies and chromosome locations; protein information includes cell type, subcellular location, sequence, ligand binding and developmental roles.

9.   CGAP

http://cgap.nci.nih.gov/
The Cancer Genome Anatomy Project (CGAP), established by NCI, was described as an interdisciplinary effort to develop information and tools for characterizing tumor cells, including molecular features of normal, precancerous and malignant cells. The original article describes open access to its data and materials.

10.                MDPD

http://datam.i2r.a-star.edu.sg/mdpd/index.php
The Mutation Database for Parkinson Disease (MDPD) integrates information to help users examine Parkinson disease genetics. The original article reports 2,391 records for 202 genes from 576 publications, manually reviewed annotations, references and a feature for comparing mutation types across populations. These historical counts may have changed.

11.                GAD

http://geneticassociationdb.nih.gov/
The Genetic Association Database (GAD) collects associations between complex diseases and genes. The source describes access to mutation information for SNP screening and mutation studies.

12.                FaCD

http://www.familialcancerdatabase.nl/
The Familial Cancer Database (FaCD) was designed to help clinicians and genetic counselors with differential diagnosis and recognition of inherited disorders associated with cancer spectra.

13.                MethylCancer

http://methycancer.psych.ac.cn/
MethylCancer integrates DNA methylation, gene expression, cancer-related genes, mutations, tumor information and CpG-island data to support study of their relationships.

14.                ID bases（locus-specific database for immunodeficiency-causing variations）

http://structure.bmc.lu.se/idbase/
A resource on immunodeficiency-associated variants that integrates single-gene mutations and related disorders, including mutations associated with albinism and X-linked agammaglobulinemia.