@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw
> .
@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:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_head
{
this:
np:hasAssertion
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_assertion
;
np:hasProvenance
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_assertion
a
np:Assertion
.
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_provenance
a
np:Provenance
.
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C0206654
a
ncit:C7057
.
dgn-gda:DGN31e4f38f9942a0684314ca87406de58b
sio:SIO_000628
miriam-gene:2271
,
lld:C0206654
;
a
sio:SIO_001121
.
}
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_provenance
{
dgn-np:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_assertion
dcterms:description
"[However, the clinical phenotype of germline mutations in SDHx genes and FH is usually distinct, with FH mutations classically associated with hereditary cutaneous and uterine leiomyomatosis and renal cell carcinoma, although recently an association with PCC/PGL has been reported.]. 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:25004247
;
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:NP1199615.RALyV8kXHzQJzPCGK7ziQocojiEitacffbTxaoFwThkjw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:49+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" .
}