@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss
> .
@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:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_head
{
this:
np:hasAssertion
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_assertion
;
np:hasProvenance
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_provenance
;
np:hasPublicationInfo
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_assertion
a
np:Assertion
.
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_provenance
a
np:Provenance
.
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_assertion
{
miriam-gene:132884
a
ncit:C16612
.
lld:C0013903
a
ncit:C7057
.
dgn-gda:DGNc477fb417666c309d83ea4e0cf3bafd7
sio:SIO_000628
miriam-gene:132884
,
lld:C0013903
;
a
sio:SIO_001121
.
}
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_provenance
{
dgn-np:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_assertion
dcterms:description
"[Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance.]. 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:21815252
;
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:NP234875.RA0WRj7rNm80Dy0vSVeIYi5LGDNlOsGaLxfc0RHUKEsss130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:11+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" .
}