@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE
> .
@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:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_head
{
this:
np:hasAssertion
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion
;
np:hasProvenance
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance
;
np:hasPublicationInfo
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion
a
np:Assertion
.
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance
a
np:Provenance
.
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion
{
miriam-gene:23545
a
ncit:C16612
.
lld:C0029454
a
ncit:C7057
.
dgn-gda:DGNeb035595a8a9f782caf6c79ea0424b3e
sio:SIO_000628
miriam-gene:23545
,
lld:C0029454
;
a
sio:SIO_001121
.
}
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_provenance
{
dgn-np:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_assertion
dcterms:description
"[Although molecular defects have been described for many animal models of osteopetrosis, the gene responsible for most cases of the severe human form of the disease (infantile malignant osteopetrosis) is unknown.]. 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:10888887
;
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:NP419486.RArNZaK8Q2uJNyvUodGqYm-Fn-SRl3ANNNXfneNkO5yQE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:09+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" .
}