@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM
> .
@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:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_head
{
this:
np:hasAssertion
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion
;
np:hasProvenance
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance
;
np:hasPublicationInfo
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion
a
np:Assertion
.
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance
a
np:Provenance
.
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGNe2786fa0f8d405de47fae3bdd5c86a59
sio:SIO_000628
miriam-gene:5727
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_provenance
{
dgn-np:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_assertion
dcterms:description
"[Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational inactivation of the PTCH gene.]. 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:15690381
;
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:NP479265.RA1nGeYqrOo_kukWJVgel1ZM_qKrRNubAnkK5W0S0DSHM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:22+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" .
}