@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE
> .
@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/v4.0.0/void/
> .
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_head
{
this:
np:hasAssertion
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_assertion
;
np:hasProvenance
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_assertion
a
np:Assertion
.
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_provenance
a
np:Provenance
.
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN516a3253dbf54d4769f491636f1a94bd
sio:SIO_000628
miriam-gene:6469
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_provenance
{
dgn-np:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_assertion
dcterms:description
"[These clinical, biochemical, and molecular studies suggest that HPE and other malformations in SLOS may be caused by incomplete or abnormal modification of the sonic hedgehog protein and, possible, other patterning proteins of the hedgehog class, a hypothesis testable in somatic cell systems.]. 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:8989473
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1365441.RAmubqO7fHHVX5I-VoNE3eHZDW8pKCQtV5S90yuaUifDE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:05+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}