@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo
> .
@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 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:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_head
{
this:
np:hasAssertion
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
;
np:hasProvenance
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
;
np:hasPublicationInfo
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
a
np:Assertion
.
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
a
np:Provenance
.
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
{
miriam-gene:8890
a
ncit:C16612
.
lld:C1858991
a
ncit:C7057
.
dgn-gda:DGNc4ce496d3404ec06c7e4fc1fc87e4d17
sio:SIO_000628
miriam-gene:8890
,
lld:C1858991
;
a
sio:SIO_001122
.
}
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_provenance
{
dgn-np:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_assertion
dcterms:description
"[In this study 15 well-characterised patients with the classical form of leukoencephalopathy with vanishing white matter (VWM) or with phenotypic variants like ovarioleukodystrophy were investigated for mutations in the genes EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 encoding eIF2B.]. 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:15776425
;
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:NP1957.RA3apcFW0jz3twR6j5r6B1t8mOyb8K594kLuJLIbJ_Hbo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:58+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" .
}