About: GeneMatcher     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : dbo:BiologicalDatabase, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
QRcode icon
http://dbpedia.demo.openlinksw.com/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FGeneMatcher

GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause.

AttributesValues
rdf:type
rdfs:label
  • GeneMatcher (en)
rdfs:comment
  • GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause. (en)
foaf:homepage
foaf:depiction
  • http://commons.wikimedia.org/wiki/Special:FilePath/GeneMatcher_logo.png
dc:description
  • Online service and database for matching clinicians based on genes of interest
dcterms:subject
Wikipage page ID
Wikipage revision ID
Link from a Wikipage to another Wikipage
Link from a Wikipage to an external page
sameAs
dbp:wikiPageUsesTemplate
thumbnail
description
  • Online service and database for matching clinicians based on genes of interest (en)
logo
  • http://dbpedia.org/resource/File:GeneMatcher_logo.png
released
  • September 2013 (en)
scope
  • Genes, genomic loci, genetic disorders, physical symptoms (en)
title
  • GeneMatcher (en)
url
Center
  • Baylor–Hopkins Center for Mendelian Genomics (en)
has abstract
  • GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest. When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases. It also allows matching genes from animal models to human cases. The service aims to establish novel relationships between genes and genetic diseases of unknown cause. The website was launched in September 2013 by a team from a government-funded collaborative project between Johns Hopkins Hospital and Baylor College of Medicine in the United States. As of December 2019, the site contained 11,855 genes from 7,724 submitters from 88 countries, and 6,609 matches had been made. The service has aided geneticists in making several discoveries, including establishing the genetic causes of a form of autism spectrum disorder, syndromes of microcephaly with hearing loss, a mitochondrial disease, SPONASTRIME dysplasia and Au–Kline syndrome. (en)
pmid
prov:wasDerivedFrom
page length (characters) of wiki page
title
  • GeneMatcher (en)
foaf:isPrimaryTopicOf
is Link from a Wikipage to another Wikipage of
is foaf:primaryTopic of
Faceted Search & Find service v1.17_git139 as of Feb 29 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 67 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software