@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE
> .
@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:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_head
{
this:
np:hasAssertion
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion
;
np:hasProvenance
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance
;
np:hasPublicationInfo
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion
a
np:Assertion
.
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance
a
np:Provenance
.
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion
{
miriam-gene:7227
a
ncit:C16612
.
lld:C0020555
a
ncit:C7057
.
dgn-gda:DGN86d7b5a663c91e8194072b551645adae
sio:SIO_000628
miriam-gene:7227
,
lld:C0020555
;
a
sio:SIO_001123
.
}
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_provenance
{
dgn-np:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_assertion
dcterms:description
"[The results describe a position effect that downregulates TRPS1 expression as the probable cause of hypertrichosis in Ambras syndrome (a rare form of congenital hypertrichosis with excessive hair on the shoulders, face and ears in humans).]. 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:18713754
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP154074.RAknaijA6BMYWY5bb3PMCP5SFe0xzy7QoNT5CTV2SJ-eE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:21+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" .
}