@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_head
{
this:
np:hasAssertion
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_assertion
;
np:hasProvenance
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_provenance
;
np:hasPublicationInfo
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_assertion
a
np:Assertion
.
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_provenance
a
np:Provenance
.
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_assertion
{
miriam-gene:23133
a
ncit:C16612
.
lld:C1136249
a
ncit:C7057
.
dgn-gda:DGN72c31509de8a08e1708e2df3bd85644c
sio:SIO_000628
miriam-gene:23133
,
lld:C1136249
;
a
sio:SIO_001122
.
}
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_provenance
{
dgn-np:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_assertion
dcterms:description
"[Importantly, a mutant PHF8 (phenylalanine at position 279 to serine) identified in the XLMR patients is defective in enzymatic activity, indicating that the loss of histone demethylase activity is causally linked with the onset of disease.]. 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:20548336
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP868363.RAyOGSZOoYqghCNPx4fWWcZwYvJUHEOIGOV5SvPXmmNuM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:28+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}