@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A
> .
@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:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_head
{
this:
np:hasAssertion
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion
;
np:hasProvenance
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance
;
np:hasPublicationInfo
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;
a
np:Nanopublication
.
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion
a
np:Assertion
.
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance
a
np:Provenance
.
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion
{
miriam-gene:401
a
ncit:C16612
.
lld:C1865915
a
ncit:C7057
.
dgn-gda:DGN250b8f6e1617e61967471fac67a97414
sio:SIO_000628
miriam-gene:401
,
lld:C1865915
;
a
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.
}
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_provenance
{
dgn-np:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_assertion
dcterms:description
"[It confirms PHOX2A as the autosomal recessive CFEOM2 disease gene and provides evidence that the phenotypic differences between PHOX2A mutations in man and mouse do not result from hypomorphic PHOX2A alleles 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:14597037
;
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:NP843560.RAt_KU-zzyqiFPOZUc8ZpC6YN-R2JFyjZtp9qoM1eHs5A130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:35+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
<
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> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> , <
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" .
}