@prefix dcterms: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_head {
this: np:hasAssertion dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_assertion;
np:hasProvenance dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_provenance;
np:hasPublicationInfo dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_publicationInfo;
a np:Nanopublication .
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_assertion a np:Assertion .
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_provenance a np:Provenance .
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_assertion {
miriam-gene:54345 a ncit:C16612 .
lld:C1843004 a ncit:C7057 .
dgn-gda:DGNfee9b932c415f93142db31480b0ad746 sio:SIO_000628 miriam-gene:54345, lld:C1843004;
a sio:SIO_001122 .
}
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_provenance {
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_assertion dcterms:description
"[Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:12740761;
prov:wasDerivedFrom dgn-void:uniprot-20130724;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}
dgn-np:NP6307.RAtRbZif0gypaN4HrCxQjVbCMGBCqiahtS1zuzY64r-Gs130_publicationInfo {
this: dcterms:created "2014-10-02T12:32:00+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}