@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g
> .
@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:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_head
{
this:
np:hasAssertion
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_assertion
;
np:hasProvenance
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_provenance
;
np:hasPublicationInfo
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_assertion
a
np:Assertion
.
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_provenance
a
np:Provenance
.
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0027662
a
ncit:C7057
.
dgn-gda:DGNc5c54fc6fdb66f692f82407c401fb58a
sio:SIO_000628
miriam-gene:5979
,
lld:C0027662
;
a
sio:SIO_001121
.
}
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_provenance
{
dgn-np:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_assertion
dcterms:description
"[Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR).]. 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:19826964
;
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:NP769269.RAVJfu1zDmjfPJmA9DMZnrpJ38rlyaB7ajYPHoySwJE2g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:33+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" .
}