@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4
> .
@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/v3.0.0/void/
> .
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_head
{
this:
np:hasAssertion
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_assertion
;
np:hasProvenance
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_provenance
;
np:hasPublicationInfo
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_assertion
a
np:Assertion
.
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_provenance
a
np:Provenance
.
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_assertion
{
miriam-gene:9997
a
ncit:C16612
.
lld:C0085584
a
ncit:C7057
.
dgn-gda:DGN591f6126dc60d849a5bcff2ff1a7b70a
sio:SIO_000628
miriam-gene:9997
,
lld:C0085584
;
a
sio:SIO_001121
.
}
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_provenance
{
dgn-np:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_assertion
dcterms:description
"[These data indicate that mutations in SCO2 cause a fatal infantile mitochondrial disorder characterized by hypertrophic cardiomyopathy and encephalopathy, and point to the presence of one or more other genes, perhaps in the copper delivery pathway, in this clinical phenotype.]. 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:10749987
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP834251.RA1uCJOQKWSPWUcFSSS_v9D5rA9G9sFXf_wb2J3W0Jii4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:06+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}