@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94
> .
@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:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_head
{
this:
np:hasAssertion
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;
np:hasProvenance
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_provenance
;
np:hasPublicationInfo
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_assertion
a
np:Assertion
.
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_provenance
a
np:Provenance
.
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0004779
a
ncit:C7057
.
dgn-gda:DGNd0d0563be2d4844aee93ef24d94af366
sio:SIO_000628
miriam-gene:6469
,
lld:C0004779
;
a
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.
}
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_provenance
{
dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_assertion
dcterms:description
"[Disorders of the sonic hedgehog signaling network are discussed next, including holoprosencephaly and the nevoid basal cell carcinoma syndrome, the former being caused by sonic hedgehog (SHH) mutations and the latter being caused by patched mutations (PTCH).]. 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:12772530
;
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 .
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dgn-np:NP189104.RA6dwQ_AU8YgzJDWSmBVqGals5J7pBE9jn26msqPagq94130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:44+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
> , <
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> , <
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
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