@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_head
{
this:
np:hasAssertion
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion
;
np:hasProvenance
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance
;
np:hasPublicationInfo
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion
a
np:Assertion
.
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance
a
np:Provenance
.
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion
{
miriam-gene:8829
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGN9248e5c9fc389c4433cfc459e5cfc6be
sio:SIO_000628
miriam-gene:8829
,
lld:C0004779
;
a
sio:SIO_001121
.
}
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_provenance
{
dgn-np:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_assertion
dcterms:description
"[Mutations in the gene coding for the transmembrane receptor protein Patched (PTCH) are implicated in the autosomal dominant disorder Gorlin syndrome (also known as naevoid basal cell carcinoma syndrome), characterized by congenital abnormalities and cancer predisposition.]. 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:18476955
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP806717.RAVKpKaIkcUgUrJGTzeBx7TktPs0U-gvAmLuCm6Nhobuc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:48+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}