@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0
> .
@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:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_head
{
this:
np:hasAssertion
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_assertion
;
np:hasProvenance
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_provenance
;
np:hasPublicationInfo
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_assertion
a
np:Assertion
.
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_provenance
a
np:Provenance
.
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_assertion
{
miriam-gene:2670
a
ncit:C16612
.
lld:C0270726
a
ncit:C7057
.
dgn-gda:DGN7cc81ecb5857db2a9264d18201480b5f
sio:SIO_000628
miriam-gene:2670
,
lld:C0270726
;
a
sio:SIO_001122
.
}
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_provenance
{
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_assertion
dcterms:description
"[The recent discovery of heterozygous de novo mutations in the glial fibrillary acidic protein (GFAP) gene as the cause of infantile and juvenile Alexander disease has shed new light on the long-standing debate whether the adult subtype has the same etiology as infantile and juvenile Alexander disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:12944715
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP2645.RAzrzsg0L2D3KOdk3gCw8A1rLVTpYUbLXCxXHBgsaDWu0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}