@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM
> .
@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/v4.0.0/void/
> .
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_head
{
this:
np:hasAssertion
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_assertion
;
np:hasProvenance
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_provenance
;
np:hasPublicationInfo
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_assertion
a
np:Assertion
.
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_provenance
a
np:Provenance
.
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_assertion
{
miriam-gene:5319
a
ncit:C16612
.
lld:C1853578
a
ncit:C7057
.
dgn-gda:DGNdc0a0974da86a7962c9619ccc7e4f422
sio:SIO_000628
miriam-gene:5319
,
lld:C1853578
;
a
sio:SIO_001121
.
}
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_provenance
{
dgn-np:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_assertion
dcterms:description
"[Neurodegeneration with brain iron accumulation (NBIA) involves several genetic disorders, two of which, aceruloplasminemia and neuroferritinopathy, are caused by mutations in genes directly involved in iron metabolic pathway, and others, such as pantothenate-kinase 2, phospholipase-A2 and fatty acid 2-hydroxylase associated neurodegeneration, are caused by mutations in genes coding for proteins involved in phospholipid metabolism.]. 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:22266337
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP954988.RApJ2z-kKQ7n3Wad45Kz174FL8uR0c2Xyu8SJ7SkUkRBM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:57+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}