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Links tagged with 'inborn genetic diseases'

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Found 14 links

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FINDbaseDatabase Content

http://www.findbase.org

Human Genome > Databases

Frequency of INherited Disorders database (FIND base) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. Other features include: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for markers in genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics journal.

NAR Database Issue 2011
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tagsethnic groups gene frequency genetic markers genetic variation humans inborn genetic diseases nucleic acid databases periodicals as topic pharmacogenetics

G2DTool Content

http://www.ogic.ca/projects/g2d_2/

Human Genome > Health and Disease

G2D (Candidate Genes to Inherited Diseases) scans a human genomic region for genes related to an inherited disease. The G2D server also presents precomputed candidate genes for more than 600 genetically inherited diseases that have been mapped onto chromosomal regions without assignment of a particular gene.

NAR Web Server Issue 2007
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tagsalgorithms alzheimer disease asthma chromosome mapping computational biology genes genetic databases genetic linkage genetic markers genetic predisposition to disease human genome humans inborn genetic diseases mathematics medline obesity phenotype type 2 diabetes mellitus

GeneSeekerTool Content

http://www.cmbi.ru.nl/GeneSeeker/

Human Genome > Health and Disease

GeneSeeker allows you to generate a list of candidate genes related to a human genetic disorder by searching against localization and expression databases.

NAR Web Server Issue 2005
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tagschromosome mapping gene expression genetic databases genetic predisposition to disease humans inborn genetic diseases phenotype syndrome systems integration

GenoWatchTool Content

http://genepipe.ngc.sinica.edu.tw/genowatch

Human Genome > Health and Disease
Human Genome > Sequence Polymorphisms

A disease gene mining browser for association study. GenoWatch is a real-time batch SNP and short tandem repeat polymorphism pipeline that extracts current information from public domain websites such as NCBI, UniProt, KEGG and GO so that users can select the appropriate disease candidate genes.

NAR Web Server Issue 2008
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tagschromosome mapping genes genetic databases genetic markers genetic polymorphism human genome humans inborn genetic diseases microsatellite repeats pubmed single nucleotide polymorphism

GFINDerTool Content

http://www.medinfopoli.polimi.it/GFINDer/

Expression > Transcript Expression Analysis

Genome Functional INtegrated Discoverer (GFINDer) takes a list of gene/clone IDs with classification information as input, and allows the user to characterize the different gene classes in the list using annotations of various types from several different sources.

NAR Web Server Issue 2004NAR Web Server Issue 2005
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tagscomputational biology controlled vocabulary gene expression profiling genetic databases genomics humans inborn genetic diseases oligonucleotide array sequence analysis phenotype proteins statistical data interpretation systems integration

HGVbaseDatabase Content

http://www.hgvbaseg2p.org/index

DNA > Sequence Polymorphisms
Human Genome > Sequence Polymorphisms

Human Genome Variation database - curated; attempt to summarize all known sequence variations in the human genome, to facilitate research into how genotypes affect common diseases, drug responses, and other complex phenotypes.

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tagsbase sequence chromosome mapping database management systems gene frequency genetic variation human genome humans inborn genetic diseases nucleic acid databases single nucleotide polymorphism systems integration

IGDDDatabase Content

http://www.igdd.iicb.res.in

DNA > Databases
Human Genome > Databases

Indian Genetic Disease Database (IGDD) is an integrated and curated repository of mutation data on common genetic diseases afflicting the Indian populations. Information on locus heterogeneity, type of mutation, clinical and biochemical data, geographical location and common mutations are furnished based on published literature. The database can be searched based on disease of interest, causal gene, type of mutation and geographical location of the patients or carriers.

NAR Database Issue 2011
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tagseuropean continental ancestry group humans inborn genetic diseases india mutation nucleic acid databases

PANTHER ToolsTool Content

http://www.pantherdb.org/tools/

DNA > Annotations
DNA > Sequence Polymorphisms
Expression > Transcript Expression Analysis
Human Genome > Annotations
Human Genome > Sequence Polymorphisms
Model Organisms > Fly
Model Organisms > Mouse and Rat
Protein > Annotation and Function
Protein > Domains and Motifs
Protein > Interactions, Pathways, Enzymes

The PANTHER (Protein ANalysis THrough Evolutionary Relationships) Classification System is a unique resource that classifies genes by their functions, using published scientific experimental evidence and evolutionary relationships to predict function. The PANTHER research tools allow you to score proteins against the PANTHER HMM library, use PANTHER to do gene expression analyses, and download PANTHER tools and data.

NAR Web Server Issue 2006
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tagsalgorithms amino acid sequence animals biological evolution computational biology database management systems gene expression profiling genetic variation humans inborn genetic diseases markov chains mice missense mutation peptide library phylogeny predictive value of tests protein databases protein sequence analysis proteins rats sequence alignment signal transduction single nucleotide polymorphism systems integration terminology as topic tertiary protein structure

PolySearchTool Content

http://wishart.biology.ualberta.ca/polysearch

Literature > Text Mining and Semantics

PolySearch allows users to conduct comprehensive and associative queries, such as given X, find all Y's, where X or Y can be diseases, tissues, cell compartments, gene/protein names, SNPs, mutations, drugs and metabolites. PolySearch also identifies, highlights and ranks abstracts, paragraphs or sentences.

NAR Web Server Issue 2008
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tagsalgorithms factual databases genes humans inborn genetic diseases metabolism mutation pharmaceutical preparations pubmed

ProspectrTool Content

http://www.genetics.med.ed.ac.uk/prospectr/

Human Genome > Health and Disease

Prospectr (PRiOrization by Sequence & Phylogenetic Extent of CandidaTe Regions) can be used to enrich lists of genes found at a suspected disease locus. Given a list of genes, Prospectr will return a ranked list ordered by the likelihood of involvement in disease.

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tagsalgorithms automation computational biology conserved sequence decision trees dna sequence analysis gene expression profiling genetic databases genetic linkage genetic models genetic polymorphism genetic predisposition to disease genetic testing genome human genome humans inborn genetic diseases linkage disequilibrium nucleic acid databases phenotype protein databases reproducibility of results research design roc curve statistical models time factors

Rat Genome Database (RGD)Database Content

http://rgd.mcw.edu/

Model Organisms > Mouse and Rat

The Rat Genome Database (RGD) is a repository of rat genetic and genomic data. As well as integrating this data with mapping, physiological and strain information, RGD also provides researchers with several tools that facilitate searching, data mining and data analysis.

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tagsanimal disease models animals cardiovascular diseases chromosome mapping database management systems disease genetic databases genetic markers genetic variation genome genomics genotype heritable quantitative trait humans inborn genetic diseases inbred strains rats mice microsatellite repeats nervous system diseases nucleic acid databases phenotype quantitative trait loci radiation hybrid mapping rats sequence homology signal transduction systems integration terminology as topic

S. pombe genomeDatabase Content

http://www.sanger.ac.uk/Projects/S_pombe/

Model Organisms > Yeast

Schizosaccharomyces pombe Genome Sequencing Project.

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tagsbase sequence centromere chromosome mapping dna sequence analysis eukaryotic cells fungal chromosomes fungal dna fungal genome fungal proteins gene duplication humans inborn genetic diseases introns schizosaccharomyces tertiary protein structure

SatellogDatabase Content

http://satellog.bcgsc.ca/

DNA > Structure and Sequence Feature Detection
Human Genome > Health and Disease

Satellog is a database for the identification and prioritization of satellite repeats in disease association studies.

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tags3' untranslated regions base sequence biomedical research cluster analysis computational biology dna sequence analysis genetic databases genetic polymorphism genetic predisposition to disease human genome humans huntington disease inborn genetic diseases microsatellite repeats nucleic acid databases schizophrenia sequence alignment trinucleotide repeat expansion trinucleotide repeats untranslated regions

SIFTTool Content

http://blocks.fhcrc.org/sift/SIFT.html

DNA > Sequence Polymorphisms
Human Genome > Sequence Polymorphisms
Protein > Annotation and Function

Sorting Intolerant From Tolerant (SIFT) is a sequence homology-based tool that will predict whether an amino acid substitution will affect protein function.

NAR Web Server Issue 2003
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tagsamino acid motifs amino acid sequence amino acid substitution bacterial proteins bacteriophage t4 chromosome mapping computational biology conserved sequence dna sequence analysis escherichia coli proteins false positive reactions genes genetic polymorphism hiv protease hiv-1 humans inborn genetic diseases lac repressors lactose missense mutation molecular sequence data muramidase mutation phenotype probability protein databases protein sequence analysis proteins pseudogenes repressor proteins sequence alignment single nucleotide polymorphism