| dbo: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) |
| dbo:thumbnail |
wiki-commons:Special:FilePath/GeneMatcher_logo.png?width=300 |
| dbo:title |
GeneMatcher (en) |
| dbo:wikiPageExternalLink |
https://www.genematcher.org/ |
| dbo:wikiPageID |
62689105 (xsd:integer) |
| dbo:wikiPageLength |
18297 (xsd:nonNegativeInteger) |
| dbo:wikiPageRevisionID |
1050502676 (xsd:integer) |
| dbo:wikiPageWikiLink |
dbr:Entrez dbr:Mitochondrial_disease dbr:Animal_models dbr:Baylor_College_of_Medicine dbr:Houston dbr:Johns_Hopkins_Hospital dbr:DECIPHER dbr:Kynureninase dbr:Leukodystrophy dbr:Maryland dbr:Gene dbr:GeneDx dbc:American_medical_websites dbr:Anosmia dbr:Autism_spectrum_disorder dbr:Baltimore dbr:HAAO dbr:HNRNPK dbr:Locus_(genetics) dbr:Ciliopathy dbr:Ensembl dbr:BRSK1 dbr:Texas dbr:ADCY3 dbc:Databases_in_the_United_States dbc:Online_databases dbr:Model_organism dbr:Microcephaly dbr:National_Institutes_of_Health dbr:Okamoto_syndrome dbr:Candidate_gene dbr:Genetic_diseases dbr:SPATA5 dbr:NDUFA6 dbr:National_Human_Genome_Research_Institute dbr:Renal_hypoplasia dbr:TELO2 dbr:Au–Kline_syndrome dbr:Sponastrime_dysplasia dbr:Gene_symbol dbr:Mitochondrial_complex_I dbr:File:GeneMatcher_logo.png dbr:OMIM dbr:NSMCE3 dbr:DEGS1 |
| dbp:center |
Baylor–Hopkins Center for Mendelian Genomics (en) |
| dbp:description |
Online service and database for matching clinicians based on genes of interest (en) |
| dbp:logo |
dbr:File:GeneMatcher_logo.png |
| dbp:pmid |
26220891 (xsd:integer) |
| dbp:released |
September 2013 (en) |
| dbp:scope |
Genes, genomic loci, genetic disorders, physical symptoms (en) |
| dbp:title |
GeneMatcher (en) |
| dbp:url |
https://www.genematcher.org/ |
| dbp:wikiPageUsesTemplate |
dbt:Infobox_biodatabase dbt:As_of dbt:Reflist dbt:Short_description |
| dc:description |
Online service and database for matching clinicians based on genes of interest |
| dct:subject |
dbc:American_medical_websites dbc:Databases_in_the_United_States dbc:Online_databases |
| rdf:type |
owl:Thing schema:CreativeWork dbo:Work wikidata:Q386724 dbo:Database dul:InformationObject dbo:BiologicalDatabase |
| 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) |
| rdfs:label |
GeneMatcher (en) |
| owl:sameAs |
wikidata:GeneMatcher https://global.dbpedia.org/id/C72qJ |
| prov:wasDerivedFrom |
wikipedia-en:GeneMatcher?oldid=1050502676&ns=0 |
| foaf:depiction |
wiki-commons:Special:FilePath/GeneMatcher_logo.png |
| foaf:homepage |
https://www.genematcher.org/ |
| foaf:isPrimaryTopicOf |
wikipedia-en:GeneMatcher |
| is dbo:wikiPageWikiLink of |
dbr:Okamoto_syndrome |
| is foaf:primaryTopic of |
wikipedia-en:GeneMatcher |
