@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs
> .
@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:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_head
{
this:
np:hasAssertion
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_assertion
;
np:hasProvenance
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_provenance
;
np:hasPublicationInfo
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_assertion
a
np:Assertion
.
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_provenance
a
np:Provenance
.
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_assertion
{
miriam-gene:2158
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN960d585a3aa3007431d14054d8d96442
sio:SIO_000628
miriam-gene:2158
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_provenance
{
dgn-np:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_assertion
dcterms:description
"[Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas.]. 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:9620294
;
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:NP242979.RAylSeDUy87nrokmSAzizGezfyCi9dBCQn6xgg1FiLJgs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:16+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" .
}