@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0
> .
@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:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_head
{
this:
np:hasAssertion
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_assertion
;
np:hasProvenance
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_assertion
a
np:Assertion
.
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_provenance
a
np:Provenance
.
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0027672
a
ncit:C7057
.
dgn-gda:DGNc0a741820be64e9f00f8cbc1f22c5205
sio:SIO_000628
miriam-gene:5979
,
lld:C0027672
;
a
sio:SIO_001122
.
}
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_provenance
{
dgn-np:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_assertion
dcterms:description
"[Activating germline mutations of the RET receptor tyrosine kinase are found in the majority of cases of inherited cancer syndrome MEN 2, and inactivating mutations in some cases of dominantly inherited Hirschsprung disease.]. 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:9047383
;
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:NP1368158.RAY6VEt_hNZt8LLu6LlSgNieDV5SEth43cKHavmG7tNb0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:06+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" .
}