@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o
> .
@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:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_head
{
this:
np:hasAssertion
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_assertion
;
np:hasProvenance
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_provenance
;
np:hasPublicationInfo
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_assertion
a
np:Assertion
.
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_provenance
a
np:Provenance
.
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGNad2c61c558d538d2dbb91386aa100924
sio:SIO_000628
miriam-gene:5727
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_provenance
{
dgn-np:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_assertion
dcterms:description
"[Mutations in the PTCH gene, the human homolog of the Drosophila patched gene, have been found to lead to the autosomal dominant disorder termed Nevoid Basal Cell Carcinoma Syndrome (NBCCS, also called Gorlin Syndrome).]. 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:15712338
;
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:NP223785.RAc4NW3J_hKgeNCIXzw4OgJ3dXXSaZeltc4qutq0egb_o130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:04+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" .
}