@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc
> .
@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:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_head
{
this:
np:hasAssertion
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_assertion
;
np:hasProvenance
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_provenance
;
np:hasPublicationInfo
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_assertion
a
np:Assertion
.
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_provenance
a
np:Provenance
.
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_assertion
{
miriam-gene:2512
a
ncit:C16612
.
lld:C0524851
a
ncit:C7057
.
dgn-gda:DGN563febd70a1f4dda4392bb7457698445
sio:SIO_000628
miriam-gene:2512
,
lld:C0524851
;
a
sio:SIO_001121
.
}
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_provenance
{
dgn-np:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_assertion
dcterms:description
"[Mutations in the coding sequence of the ferritin light chain (FTL) gene cause a neurodegenerative disease known as neuroferritinopathy or hereditary ferritinopathy, which is characterized by the presence of intracellular inclusion bodies containing the mutant FTL polypeptide and by abnormal accumulation of iron in the brain.]. 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:19923220
;
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:NP904961.RAJMaCjo5X5N0yQv60cIU9n6NeGMOyrlAkcrRTU91k3Tc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:16+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" .
}