@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA
> .
@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:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_head
{
this:
np:hasAssertion
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_assertion
;
np:hasProvenance
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_provenance
;
np:hasPublicationInfo
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_assertion
a
np:Assertion
.
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_provenance
a
np:Provenance
.
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C1708350
a
ncit:C7057
.
dgn-gda:DGN5925b6c18f76aae9fd2401a873f60b0e
sio:SIO_000628
miriam-gene:2271
,
lld:C1708350
;
a
sio:SIO_001121
.
}
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_provenance
{
dgn-np:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_assertion
dcterms:description
"[Mutation of fumarate hydratase (FH) at 1q43 is known to cause the Mendelian syndromes of multiple cutaneous and uterine leiomyomata (MCL) and hereditary leiomyomatosis and renal cell cancer (HLRCC), and recently, FH mutations have been detected in some non-syndromic UL.]. 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:17613550
;
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:NP618764.RAmz8lt5-7Bz3BULlrPJNFmtOaXNku_3SuJQsuJM31lnA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:26+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" .
}