@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU
> .
@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#
> .
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{
this:
np:hasAssertion
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;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_assertion
a
np:Assertion
.
dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_provenance
a
np:Provenance
.
dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_publicationInfo
a
np:PublicationInfo
.
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{
miriam-gene:401
a
ncit:C16612
.
lld:C1865915
a
ncit:C7057
.
dgn-gda:DGNb9db261242d8e98a8f25144cefd2a898
sio:SIO_000628
miriam-gene:401
,
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;
a
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.
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dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_provenance
{
dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_assertion
dcterms:description
"[We now identify additional pedigrees with CFEOM1 to determine if the disorder is genetically heterogeneous and, if so, if any affected members of CFEOM1 pedigrees or sporadic cases of classic CFEOM harbor mutations in ARIX, the CFEOM2 disease gene.]. 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:11882252
;
prov:wasDerivedFrom
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;
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 .
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dgn-np:NP919872.RAQJDuXFePK0dhK_xeEWDkXMP6S-ugHgS8pAJ-nxKXwEU130_publicationInfo
{
this:
dcterms:created
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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
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pav:authoredBy
<
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> , <
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> , <
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
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