@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q
> .
@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:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_head
{
this:
np:hasAssertion
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_assertion
;
np:hasProvenance
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_assertion
a
np:Assertion
.
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_provenance
a
np:Provenance
.
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C0740457
a
ncit:C7057
.
dgn-gda:DGN501c8f41faed4b491a6ff3b0c6fe18f3
sio:SIO_000628
miriam-gene:2271
,
lld:C0740457
;
a
sio:SIO_001121
.
}
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_provenance
{
dgn-np:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_assertion
dcterms:description
"[Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is an autosomal dominant disorder in which germline mutations of fumarate hydratase (FH) gene confer an increased risk of cutaneous and uterine leiomyomas and renal cancer.]. 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:24441663
;
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:NP402571.RAX7iGecnwqYskzC-9WThhVQ56B_7B1wNjbZJ9r4Vx-3Q130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:34+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" .
}