@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_head
{
this:
np:hasAssertion
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_assertion
;
np:hasProvenance
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_provenance
;
np:hasPublicationInfo
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_assertion
a
np:Assertion
.
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_provenance
a
np:Provenance
.
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_assertion
{
miriam-gene:84295
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGNe22d1e0cd173fe064f2bbc4b5287aff2
sio:SIO_000628
miriam-gene:84295
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_provenance
{
dgn-np:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_assertion
dcterms:description
"[Börjeson-Forssman-Lehmann syndrome (BFLS; OMIM 301900) is characterized by moderate to severe mental retardation, epilepsy, hypogonadism, hypometabolism, obesity with marked gynecomastia, swelling of subcutaneous tissue of the face, narrow palpebral fissure and large but not deformed ears.]. 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:12415272
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP391513.RAnd6cSFFyIfWYangf9LhCfLeoxlIhnI-87Z3_B-ktMLM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:53+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}