@prefix orcid: .
@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 dcterms: .
@prefix np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_head {
this: np:hasAssertion dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_assertion;
np:hasProvenance dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_provenance;
np:hasPublicationInfo dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_publicationInfo;
a np:Nanopublication .
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_assertion a np:Assertion .
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_provenance a np:Provenance .
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_assertion {
miriam-gene:4653 a ncit:C16612 .
lld:C0020302 a ncit:C7057 .
dgn-gda:DGN61c087d8b218aeca8fbb4e89f64473bf sio:SIO_000628 miriam-gene:4653, lld:C0020302;
a sio:SIO_001122 .
}
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_provenance {
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_assertion dcterms:description
"[The phenotype and spectrum of the CYP1B1 and MYOC mutation roles in the clinical characteristics of primary congenital glaucoma varied according to ethnicity. The rarity of mutations in the CYP1B1 gene among Ashkenazi primary congenital glaucoma patients ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_literature;
sio:SIO_000772 miriam-pubmed:21168818;
prov:wasDerivedFrom dgn-void:gad-20150221;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:gad-20150221 pav:importedOn "2015-02-21"^^xsd:date .
dgn-void:source_evidence_literature a eco:ECO_0000212;
rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
rdfs:label "DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP189029.RA4ZZkkDL7V5LGNZABERSSQD2H2ufaT0F9IvQG4anHahk130_publicationInfo {
this: dcterms:created "2016-05-13T12:43:12+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
pav:createdBy orcid:0000-0003-0169-8159;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}