Tag: mutation
Found 39 sources
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Mouse Genome Database - a Mouse Genome Informatics (MGI) Resource
MGI is the international database resource for the laboratory mouse, providing integrated genetic, genomic, and biological data to facilitate the study of human health and disease.
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DisGeNET: a knowledge base for disease genomics
DisGeNET is a discovery platform containing one of the largest collections available of genes and variants involved in human diseases. DisGeNET integrates data from expert curated repositories, GWAS catalogues, animal models, and the scientific liter
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Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man. It is an authoritative compendium of human genes and phenotypes. The full-text, referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes. OMIM focuses on the relation
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The Zebrafish Information Network
The Zebrafish Information Network, ZFIN, serves as the primary community database resource for the laboratory use of zebrafish. We develop and support integrated zebrafish genetic, genomic, developmental and physiological information and link this in
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Pathogen Host Interactions
PHI-Base contains expertly curated molecular and biological information on genes proven to affect the outcome of pathogen-host interactions. PHI-base catalogues experimentally verified pathogenicity, virulence and effector genes from fungal, Oomycete
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Information system for G protein-coupled receptors
The GPCRDB is a molecular-class information system that collects, combines, validates and stores large amounts of heterogenous data on G protein-coupled receptors (GPCRs). The GPCRDB contains data on sequences, ligand binding constants and mutations.
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Homologene
HomoloGene is an automated system for the detection of homologs among the annotated genes of several completely sequenced eukaryotic genomes. HomoloGene takes protein sequences from differing species and compares them to one another (using blastp) an
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Phenomics of yeast Mutants
PhenoM (Phenomics of yeast Mutants) stores, retrieves, visualises and data mines the quantitative single-cell measurements extracted from micrographs of temperature-sensitive mutant cells. PhenoM allows users to rapidly search and retrieve raw images
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Infevers
A registry of Hereditary Auto-inflammatory Disorder Mutations.
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Ascidian Network for In Situ Expression and Embryological Data
Aniseed is a database designed to offer a representation of ascidian embryonic development at the level of the genome (cis-regulatory sequences, spatial gene expression, protein annotation), of the cell (cell shapes, fate, lineage) or of the whole em
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CHD7 Database
The CHD7 database contains locus-specific, anonymised mutation data on both published and unpublished variants of the CHD7 gene related to the CHARGE syndrome phenotype. It can be searched for patients and their clinical phenotype or for mutations. I
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The ITHANET Portal
The ITHANET Portal represents an expanding resource for clinicians and researchers dealing with haemoglobinopathies and a port of call for patients in search of professional advice. The ITHANET Portal integrates information on news, events, clinical
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DEB Register
International Dystrophic Epidermolysis Bullosa Patient Registry (DEB Register) provides phenotypic and genotypic information on DEB and the related COL7A1 mutations. The registry is intended to aid in disease diagnosis, genetic counseling, and discov
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ViruSurf
ViruSurf is a large public database of viral sequences and integrated and curated metadata from heterogeneous sources (RefSeq, GenBank, COG-UK and NMDC); it also exposes computed nucleotide and amino acid variants, called from original sequences. A G
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EuroPhenome
The EuroPhenome project provides access to raw and annotated mouse phenotyping data generated from primary pipelines such as EMPReSSlim and secondary procedures from specialist centres. Mutants of interest can be identified by searching the gene or t
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KinMutBase
KinMutBase is a comprehensive database of disease-causing mutations in protein kinase domains. This resources provides plenty of information, namely mutation statistics and display, clickable sequences with mutations and changes to restriction enzyme
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International Microvillus Inclusion Disease Patient Registry
The international Microvillus Inclusion Disease Patient Registry contains anonymised data on both published and unpublished MVID patients, as well as their associated MYO5B, STX3 and STXBP2 mutations and genotypes, and clinical and molecular phenotyp
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Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts
The Database of Kashiwa Encyclopedia for human genome mutations in Regulatory regions and their Omics contexts (DBKERO) stores transcriptome information with a catalogue of genomic variations including public SNP data and epigenome information to ena
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Rat Strain Ontology
This ontology defines the hierarchical display of the different rat strains as derived from the parental strains.
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Mosquito Insecticide Resistance Ontology
Monitoring of insect vector populations with respect to their susceptibility to one or more insecticides is a crucial element of the strategies used for the control of arthropod-borne diseases. This management task can nowadays be achieved more effic
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Database of Somatic Mutations in Normal Cells
The Database of Somatic Mutations in Normal Cells (DSMNC) provides a catalogue of somatic single nucleotide variations (SNVs) occurring in single cells from various human and mouse normal tissues.
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Mouse PATHology
Mouse PATHology (MPATH) ontology is a structured controlled vocabulary of mutant and transgenic mouse pathology phenotypes. This resource was developed by the Pathology Consortium of Pathbase (www.pathbase.net).
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PROtein-protein compleX MutAtion ThErmodynamics Database
PROXiMATE is a database of thermodynamic data for more than 6000 missense mutations in 174 heterodimeric protein-protein complexes, supplemented with interaction network data from STRING database, solvent accessibility, sequence, structural and funct
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Mediterranean Founder Mutation Database
A comprehensive database established to offer a web-based access to founder mutation data in Mediterranean population. The database provides an overview about the spectrum of founder mutations found in Mediterranean population to the scientific commu
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mirDNMR
mirDNMR is a database for the collection of gene-centered background DNMRs obtained from different methods and population variation data. The database has the following functions: (i) browse and search the background DNMRs of each gene predicted by f
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RIKEN Arabidopsis Genome Encyclopedia II
RARGE II provides basic information about the Arabidopsis genome, such as information related to cDNA sequences and transposon insertion mutants. To create it, publicly available information for a total of 66,209 Arabidopsis mutant lines was used, in
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NASA Ames PAH IR Spectroscopic Database
Collaboration between the astronomers, laboratory chemists and theoretical chemists at the facilities of NASA's Ames Research Center resulted in the collection of PAH spectra known as The NASA Ames PAH IR Spectroscopic Database. Collaboration with di
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Moroccan Genetic Disease Database
The Moroccan Genetic Disease Database (MGDD) collect and document mutations and frequencies of polymorphisms reported in the Moroccan population. The information in the MGDD allow researchers and clinicians to find mutations associated to a given dis
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AIP Mutation Database
The AIP Mutation Database collects variants (both pathogenic, non-pathogenic and with unknown significance) related to pituitary adenoma predisposition (PAP) and to familial isolated pituitary adenoma (FIPA) syndromes and their clinical information i
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Ascomycete Phenotype Ontology
Ascomycete Phenotype Ontology is a structured controlled vocabulary for the phenotypes of Ascomycete fungi.
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The Coli Genetic Stock Center
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 m
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FlyGlycoDB Ontology
The glycobiology of Drosophila has been extensively studied in recent years, and much information has accumulated regarding glycan-related genes and proteins in Drosophila. The FlyGlycoDB ontology describes glycogenes of Drosophila and includes mutan
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Monarch Initiative
Human disease-related phenotypes in model organisms
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Cystic Fibrosis Mutation Database
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
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Parkinson Disease Mutation Database
The Parkinson disease Mutation Database (PDmutDB) aims at collecting all known mutations in the genes related to Parkinson disease (PD).
Mutations are collected from the literature and from presentations at scientific meetings. In addition, mutations
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Androgen Receptor Mutations Database
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 publish
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Alzheimer Disease & Frontotemporal Dementia Mutation Database
The Alzheimer Disease & Frontotemporal Dementia Mutation Database (AD&FTDMDB) aims at collecting all known mutations in the genes related to Alzheimer disease (AD) and fromtotemporal dementias (FTD).
Mutations are collected from the literature and fr
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BIOchemical PathwaY DataBase
BIOPYDB is a manually-curated database of human cell specific biochemical pathway data. The information within BIOPYDB is primarily extracted from published scientific literature and a selection of databases. The reconstructed pathways contain inform
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International Mouse Strain Resource
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
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*ReputationScore indicates how established a given datasource is. Find out more.
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