@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo
> .
@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:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_head
{
this:
np:hasAssertion
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion
;
np:hasProvenance
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance
;
np:hasPublicationInfo
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion
a
np:Assertion
.
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance
a
np:Provenance
.
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion
{
miriam-gene:4434
a
ncit:C16612
.
lld:C0020757
a
ncit:C7057
.
dgn-gda:DGN401c6dd715ab490d1cdcea7c260e30d0
sio:SIO_000628
miriam-gene:4434
,
lld:C0020757
;
a
sio:SIO_001121
.
}
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_provenance
{
dgn-np:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_assertion
dcterms:description
"[They differed from classic MSD by the presence of corneal cloudiness, macrocephaly, severe dysostosis multiplex, and gibbus and the absence of ichthyosis, retinal degeneration, severe deafness, severe mental retardation, and dementia.]. 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:1588009
;
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:NP543816.RAzPSGDX1qEWGwqLxryyfsGYQSS7aScCspApBbF-npuHo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:28+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" .
}