@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc
> .
@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:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_head
{
this:
np:hasAssertion
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_assertion
;
np:hasProvenance
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_provenance
;
np:hasPublicationInfo
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_assertion
a
np:Assertion
.
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_provenance
a
np:Provenance
.
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_assertion
{
miriam-gene:10166
a
ncit:C16612
.
lld:C0268540
a
ncit:C7057
.
dgn-gda:DGN31abe8cbd33ad7230d22696abb56861d
sio:SIO_000628
miriam-gene:10166
,
lld:C0268540
;
a
sio:SIO_001121
.
}
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_provenance
{
dgn-np:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_assertion
dcterms:description
"[Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined.]. 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:14759633
;
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:NP430461.RAfrjcV0pegYpszhweSsKVcah3EzfniXfoVn4fjqhuaFc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:00+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" .
}