@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck
> .
@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:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_head
{
this:
np:hasAssertion
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_assertion
;
np:hasProvenance
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_provenance
;
np:hasPublicationInfo
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_assertion
a
np:Assertion
.
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_provenance
a
np:Provenance
.
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_assertion
{
miriam-gene:23133
a
ncit:C16612
.
lld:C0158646
a
ncit:C7057
.
dgn-gda:DGNd098f60ba90ce2f8eb31a9d4e570ce98
sio:SIO_000628
miriam-gene:23133
,
lld:C0158646
;
a
sio:SIO_001121
.
}
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_provenance
{
dgn-np:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_assertion
dcterms:description
"[The association of XLMR and cleft lip/palate in these patients with mutations in PHF8 suggests an important function of PHF8 in midline formation and in the development of cognitive abilities, and links this gene to XLMR associated with cleft lip/palate.]. 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:16199551
;
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:NP243894.RAuzcHs3RGq3NkS0jhDkWZk2faLZsl4Z8DRhiZezRKOck130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:16+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" .
}