@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY
> .
@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:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_head
{
this:
np:hasAssertion
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_assertion
;
np:hasProvenance
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_assertion
a
np:Assertion
.
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_provenance
a
np:Provenance
.
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0025268
a
ncit:C7057
.
dgn-gda:DGN82a281936cebc9e4286c63339978940a
sio:SIO_000628
miriam-gene:5979
,
lld:C0025268
;
a
sio:SIO_001121
.
}
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_provenance
{
dgn-np:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_assertion
dcterms:description
"[It has been shown that distinct germline mutations in the RET proto-oncogene are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia type 2A and 2B (MEN 2A and MEN 2B) and familial medullary thyroid carcinoma (FMTC) as well as Hirschsprung disease (HSCR), a congenital disorder characterised by absent enteric innervation.]. 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:8570194
;
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:NP1346093.RA2y5PydXMTqqcYanjPo9lkRxEq58qMa9eO2gG_VuCjPY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:56+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" .
}