@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0
> .
@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:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_head
{
this:
np:hasAssertion
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion
;
np:hasProvenance
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion
a
np:Assertion
.
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance
a
np:Provenance
.
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0019569
a
ncit:C7057
.
dgn-gda:DGN7628a4a8e537243eab0408045bab74b8
sio:SIO_000628
miriam-gene:5979
,
lld:C0019569
;
a
sio:SIO_001121
.
}
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_provenance
{
dgn-np:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_assertion
dcterms:description
"[This information is relevant for the screening of recently reported missense mutations of RET which cause Multiple Endocrine Neoplasia 2A (MEN2A) and for the search of additional point mutations of the same gene which might cause two other neural crest disorders, MEN2B and Hirschsprung disease, mapping in the same region as MEN2A.]. 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:7902707
;
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:NP1325535.RAJvyCan6xp0ykdh-RroHtmckgmcp6rFES1yfGUp3jOS0130_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" .
}