@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_head
{
this:
np:hasAssertion
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_assertion
;
np:hasProvenance
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_provenance
;
np:hasPublicationInfo
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_assertion
a
np:Assertion
.
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_provenance
a
np:Provenance
.
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0006826
a
ncit:C7057
.
dgn-gda:DGN7dc085fd2ceeca334417189a08340d65
sio:SIO_000628
miriam-gene:5727
,
lld:C0006826
;
a
sio:SIO_001121
.
}
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_provenance
{
dgn-np:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_assertion
dcterms:description
"[Mutations in the human ortholog of Drosophila patched (PTCH) have been identified in patients with autosomal dominant nevoid basal cell carcinoma syndrome (NBCCS), characterized by minor developmental anomalies and an increased incidence of cancers such as medulloblastoma and basal cell carcinoma.]. 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:16203740
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP319316.RApl2wIZ7hQnKLM-SBtYFSy_Wgu4891IF6Pko986RaaE4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:05+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}