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Found 16 result(s)

Androgen Receptor Mutations Database

AR Gene Mutations Database

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Androgen Receptor Gene Mutations Database is for all who are interested in mutations of the Androgen Receptor Gene. In light of the difficulty in getting new AR mutations published the curator will now accept new mutations that have not been published, provided that it is from a reputable research or clinical laboratory. The curator also strongly suggests that where possible, particularly in the case of new unique mutations that an attempt be made to at least confirm the pathogenicity of the putatative mutation, by showing that the mutation when transfected into a suitable expression system produces a mutant androgen receptor protein.

Cystic Fibrosis Mutation Database

CFTR1

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The Cystic Fibrosis Mutation Database (CFTR1) was initiated by the Cystic Fibrosis Genetic Analysis Consortium in 1989 to increase and facilitate communications among CF researchers, and is maintained by the Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto. The specific aim of the database is to provide up to date information about individual mutations in the CFTR gene. In a major upgrade in 2010, all known CFTR mutations and sequence variants have been converted to the standard nomenclature recommended by the Human Genome Variation Society.

The Lafora Progressive Myoclonus Epilepsy Mutation and Polymorphism Database

The Lafora Database

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A curated database of mutations and polymorphisms associated with Lafora Progressive Myoclonus Epilepsy. The Lafora progressive myoclonus epilepsy mutation and polymorphism database is a collection of hand curated mutation and polymorphism data for the EPM2A and EPM2B (NHLRC1) from publicly available literature: databases and unpublished data. The database is continuously updated with information from in-house experimental data as well as data from published research studies.

Indian Genetic Disease Database

IGDD

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>>>!!!<<< The repository is no longer available. >>>!!!<<< Indian Genetic Disease Database (IGDD) is an initiative of CSIR Indian Institute of Chemical Biology. It is supported by Council of Scientific and Industrial Research (CSIR) and Department of Biotechnology (DBT) of India. The Indian people represent one-sixth of the world population and consists of a ethnically, geographically, and genetically diverse population. In some communities the ratio of genetic disorder is relatively high due to consanguineous marriage practiced in the community. This database has been created to keep track of mutations in the causal genes for genetic diseases common in India and help the physicians, geneticists, and other professionals retrieve and use the information for the benefit of the public. The database includes scientific information about these genetic diseases and disabilities, but also statistical information about these diseases in today's society. Data is categorized by body part affected and then by title of the disease.

Oral Cancer Gene Database

OrCGDB

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Oral Cancer Gene Database is an initiative of the Advanced Centre for Treatment, Research and Education in Cancer, Navi Mumbai. The present database, version II, consists of 374 genes. It is developed as a user friendly site that would provide the scientist, information and external links from one place. The database is accessed through a list of all genes, and Keyword Search using gene name or gene symbol, chromosomal location, CGH (in %), and molecular weight. Interaction Network shows the interaction between genes for particular biological processes and molecular functions.

The Global Proteome Machine

GPM

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The Global Proteome Machine (GPM) is a protein identification database. This data repository allows users to post and compare results. GPM's data is provided by contributors like The Informatics Factory, University of Michigan, and Pacific Northwestern National Laboratories. The GPM searchable databases are: GPMDB, pSYT, SNAP, MRM, PEPTIDE and HOT.

NCBI HomoloGene

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The HomoloGene database provides a system for the automated detection of homologs among annotated genes of genomes across multiple species. These homologs are fully documented and organized by homology group. HomoloGene processing uses proteins from input organisms to compare and sequence homologs, mapping back to corresponding DNA sequences.

E. coli Genetic Resources at Yale

The Coli Genetic Stock Center

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The CGSC Database of E. coli genetic information includes genotypes and reference information for the strains in the CGSC collection, the names, synonyms, properties, and map position for genes, gene product information, and information on specific mutations and references to primary literature. The public version of the database includes this information and can be queried directly via this CGSC DB WebServer

NCBI Reference Sequence Database

RefSeq

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The Reference Sequence (RefSeq) collection provides a comprehensive, integrated, non-redundant, well-annotated set of sequences, including genomic DNA, transcripts, and proteins. RefSeq sequences form a foundation for medical, functional, and diversity studies. They provide a stable reference for genome annotation, gene identification and characterization, mutation and polymorphism analysis (especially RefSeqGene records), expression studies, and comparative analyses.

Clinical Genomic Database

CGD

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Clinical Genomic Database (CGD) is a manually curated database of conditions with known genetic causes, focusing on medically significant genetic data with available interventions.

Phenylalanine Hydroxylase Locus Knowledgebase

PAHdb

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<<<!!!<<< This repository is no longer available. >>>!!!>>>

CASRdb

Calcium Sensing Receptor Database

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<<<!!!<<< This repository is no longer available. >>>!!!>>> Message since 2018-06: This virtual host is being reconstructed.

Online Mendelian Inheritance in Man

OMIM

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OMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, under the direction of Dr. Ada Hamosh. Its official home is omim.org.

International Mouse Strain Resource

IMSR

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The IMSR is a searchable online database of mouse strains, stocks, and mutant ES cell lines available worldwide, including inbred, mutant, and genetically engineered strains. The goal of the IMSR is to assist the international scientific community in locating and obtaining mouse resources for research. Note that the data content found in the IMSR is as supplied by strain repository holders. For each strain or cell line listed in the IMSR, users can obtain information about: Where that resource is available (Repository Site); What state(s) the resource is available as (e.g. live, cryopreserved embryo or germplasm, ES cells); Links to descriptive information about a strain or ES cell line; Links to mutant alleles carried by a strain or ES cell line; Links for ordering a strain or ES cell line from a Repository; Links for contacting the Repository to send a query

The Monarch Initiative

Monarch Initiative

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As with most biomedical databases, the first step is to identify relevant data from the research community. The Monarch Initiative is focused primarily on phenotype-related resources. We bring in data associated with those phenotypes so that our users can begin to make connections among other biological entities of interest. We import data from a variety of data sources. With many resources integrated into a single database, we can join across the various data sources to produce integrated views. We have started with the big players including ClinVar and OMIM, but are equally interested in boutique databases. You can learn more about the sources of data that populate our system from our data sources page https://monarchinitiative.org/about/sources.

Follicular Lymphoma Genome Data at Canada's Michael Smith Genome Sciences Centre (BCGSC)

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<<<!!!<<< Genome data generated by BC Genome Sciences Centre is no longer available through this site as it is regularly deposited into controlled data repositories such as the European Genome Phenome Archive (EGA); ICGC (International Cancer Genome Consortium) and the Genome Data Commons (GDC) >>>!!!>>> Mapping, copy number analysis, sequence and gene expression data generated by the High Resolution Analysis of Follicular Lymphoma Genomes project. The data will be available for 24 patients with follicular lymphoma. All data will be made as widely and freely available as possible while safeguarding the privacy of participants, and protecting confidential and proprietary data.The data from this project will be submitted to public genomic data sources. These sources will be listed on this web site as the data becomes available in these external data sources.