@prefix dct: .
@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 np: .
@prefix dgn-np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_head {
this: np:hasAssertion dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_assertion;
np:hasProvenance dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_provenance;
np:hasPublicationInfo dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_publicationInfo;
a np:Nanopublication .
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_assertion a np:Assertion .
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_provenance a np:Provenance .
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_assertion {
miriam-gene:367 a ncit:C16612 .
lld:C0848558 a ncit:C7057 .
dgn-gda:DGN485314395c804db82ba0e9ea48f82a91 sio:SIO_000628 miriam-gene:367, lld:C0848558;
a sio:SIO_001122 .
}
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_provenance {
dgn-np:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_assertion dct:description
"[In conclusion, mutations are frequently found in genes that control androgen action and metabolism, but are seldom found in genes active in the early phase of sex determination and differentiation. Mutations in AR, SRD5A2 or WT1 seem to be associated not only with hypospadias but also with micropenis.]. 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:15266301;
prov:wasDerivedFrom dgn-void:gad-20130706;
prov:wasGeneratedBy eco:ECO_0000203 .
dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^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:NP48033.RAjYQdw72SLD6yuvJJ1YPytDSR-baDsb5Ouo1ZFZN_DNM130_publicationInfo {
this: dct:created "2014-10-02T12:32:22+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetrdf;
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 "v2.1.0.0" .
dgn-void:disgenetrdf pav:version "v2.1.0" .
}