@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s
> .
@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:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_head
{
this:
np:hasAssertion
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_assertion
;
np:hasProvenance
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_provenance
;
np:hasPublicationInfo
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_assertion
a
np:Assertion
.
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_provenance
a
np:Provenance
.
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_assertion
{
miriam-gene:5727
a
ncit:C16612
.
lld:C0812437
a
ncit:C7057
.
dgn-gda:DGN067acefe9d27d4a24215b4b9b3aa8559
sio:SIO_000628
miriam-gene:5727
,
lld:C0812437
;
a
sio:SIO_001121
.
}
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_provenance
{
dgn-np:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_assertion
dcterms:description
"[We report on the occurrence of discrete patches of unusually long pigmented hair on the skin of three patients with Gorlin syndrome from two unrelated families with confirmed heterozygous mutations in the Patched (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:16906569
;
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:NP313095.RAchXr-jDE_ChyGlfXIOZ7xnxrq8jlU4unpbz4PtweQ_s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:59+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" .
}