@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y
> .
@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:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_head
{
this:
np:hasAssertion
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_assertion
;
np:hasProvenance
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_assertion
a
np:Assertion
.
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_provenance
a
np:Provenance
.
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0341038
a
ncit:C7057
.
dgn-gda:DGNf74924fdc0aa36295499ef7cf911dfc9
sio:SIO_000628
miriam-gene:5727
,
lld:C0341038
;
a
sio:SIO_001121
.
}
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_provenance
{
dgn-np:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_assertion
dcterms:description
"[The results suggest that germline mutations on PTCH can cause isolated OKC, and that the PTCH gene responsible for NBCCS plays an important role in the formation of OKCs even when they are not syndrome-related.]. 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:16675912
;
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:NP260162.RANXwjG3U-CXJczmNjIWytEblRABS6l7PyXSQelKBuU6Y130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:25+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" .
}