Locus-specific variation databases | Genome annotation

Provide a flexible, freely available tool for Gene-centered collection and display of DNA variations. LOVD 3.0 extends this idea to also provide patient-centered data storage and storage of NGS data, even of variants outside of genes. LOVD allows users to link large numbers of DNA variants in one or more genes to an individual (multi-gene disorders or large scale next-generation sequencing). You can even use LOVD on your personal computer to browse through the variants in your own exome/genome. To maintain a high quality of the data stored, LOVD connects with various resources, like HGNC, NCBI, EBI and Mutalyzer.

A reference for all scientists working on p53, including information on p53 structure and function, the description of all p53 monoclonal antibodies and the phylogenetic analysis of p53. More than 50% of human tumors carry TP53 gene mutations and in consequence more than 45,000 somatic and germline mutations have been gathered in the UMD TP53 database. Analyses of these mutations have been invaluable for bettering our knowledge on the structure-function relationships within the TP53 protein and the high degree of heterogeneity of the various TP53 mutants in human cancer.

A joined international effort through the TREAT-NMD network to provide up-to-date information about mutations of the Duchenne muscular dystrophy (DMD) gene identified in patients with dystrophinopathies worldwide. Published and unpublished molecular data are collected from more than 30 national registries. TREAT-NMD DMD Global Database aims at making the information readily accessible to non-commercial users (geneticists, clinicians or researchers) interested in the genetic variations of the DMD gene, the clinics of dystrophinopathies, or the development of new therapeutic approaches.

Provides information about mutations of the APC gene. The UMD- APC database aims at making the information readily accessible to anyone interested in the genetic variations of the APC gene, and to provide an easy way for those who investigate these variations to report their most recent findings. It has been enriched with germline variations found through genetic testing analyses provided by the French APC network of 8 diagnostic laboratories that register up-to-date information about mutations in genes involved in colorectal cancer predisposition. This database currently contains published and unpublished information about the APC variations reported in French diagnostic laboratories.

Provides catalogues of gene variations involved in monogenic diabetes syndromes. The EURO-WABB locus specific database is an online resource that operates at a disease specific level to support efficient diagnosis and research for these syndromic diabetes diseases. This database has also links to other services such as PubMed, HGNC, Entrez Gene, OMIM and GeneCards, in addition to sequence databases.

Catalogues information about genes implicated in kidney disease. KGDB is a curated and integrated database that provides a wealth of relevant information. Provided data were extracted from publications in the biomedical literature and from gene expression databases. This resource can be queried by gene names, symbols, aliases and identification numbers, such as LocusLink ID or UniGene ID. It can also be browsed by molecular event or specific kidney disease.

Links towards databases dealing with the information relative to gene sequence variation associated with human phenotypes. LSDBs aims to propose a registry as exhaustive as possible of online resources available. Each recorded repository includes data such as a direct URL for accessing the targeted repository, curators name, the possible linked diseases, and the acceptance of submission by external users as well as the last update date.

Contains a gene loci browser with nucleotide level mappings of oligo probes from expression microarrays. GATExplorer enables interactive exploration of gene loci, transcripts and exons of human, mouse and rat genomes. It allows vision of probes in their own genomic context, with associated non-coding or protein-coding transcripts. In order to analyze transcriptomic data in a genomic context, five major datasets are integrated to this database.

A publicly accessible online resource for recording and analyzing MAN2B1 variants. amamutdb.no offers structured and relational information on MAN2B1 mutations and genotypes along with associated clinical phenotypes. The following information is freely available as a service to the scientific community: Published data on disease causing mutations and benign polymorphisms and their effect on enzyme activity, protein conformation, processing and localization. Clinical and demographic data are available as statistical summaries. Sensitive information and unpublished data are protected.

Gathers information concerning C1-INH gene mutation. HAEdb aims to assist users in the comprehension of information on genetic alterations of the C1-INH gene. The data contained on this database can be searched and compared according to several characteristics such as type, size, or mutation. It intends to be a useful resource to determine if a new mutation may be disease-causing or not.