@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ
> .
@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:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_head
{
this:
np:hasAssertion
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_assertion
;
np:hasProvenance
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_assertion
a
np:Assertion
.
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_provenance
a
np:Provenance
.
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0027662
a
ncit:C7057
.
dgn-gda:DGN21b259275085ffef0efdb829bf3fa78b
sio:SIO_000628
miriam-gene:5979
,
lld:C0027662
;
a
sio:SIO_001121
.
}
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_provenance
{
dgn-np:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_assertion
dcterms:description
"[Mutations of the RET proto-oncogene are the underlying cause of some cases of Hirschsprung disease (HSCR) and the inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC).]. 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:7881414
;
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:NP1324675.RA1-5bz3IgVikQ-EarT-LLJx_fFs-0Rkq7Jnxk-vg7MJQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:47+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" .
}