Database | URL | Description |
---|---|---|
HGMD--Human Gene Mutation Database (open access content) | Established for the study of mutational mechanisms in human genes and provides information of practical diagnostic importance | |
OMIM--Online Mendelian Inheritance in Man | Comprehensive collection of human genes and genetic phenotypes with information on all known Mendelian disorders | |
dbSNP--NCBI Single Nucleotide Polymorphism [10] | 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 | 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] | Developed to archive/distribute results of studies investigating the interaction of genotype/phenotype | |
GeneRev--GeneReviews | Expert-authored, peer-reviewed, current genetic disease descriptions | |
GeneCards | Searchable, integrated database of human genes | |
UniProt--Universal Protein Resource | A comprehensive, high-quality and freely accessible resource of protein sequence and functional information | |
GDB--Human Genome Database | A community-curated collection of human genomic data. No longer operational | |
Ensembl | Software system which produces and maintains automatic annotation on selected eukaryotic genomes | |
DGV--Database of Genomic Variants | Comprehensive summary of structural variation in the human genome | |
PAHdb--Phenylalanine Hydroxylase Locus Knowledgebase | Maintains and centralises mutation data on the PAH gene | |
InSiGHT--LOVD (Leiden Open Variation Database) | International organisation aiming to improve quality of care for patients with hereditary gastrointestinal tumours | |
BIC--Open Access On-Line Breast Cancer Mutation Data Base | Maintains a central repository for information regarding mutations and polymorphisms in breast cancer susceptibility genes |