@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA
> .
@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:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_head
{
this:
np:hasAssertion
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_assertion
;
np:hasProvenance
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_provenance
;
np:hasPublicationInfo
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_assertion
a
np:Assertion
.
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_provenance
a
np:Provenance
.
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0079541
a
ncit:C7057
.
dgn-gda:DGN3ba623473c1129696ab862a09caa069a
sio:SIO_000628
miriam-gene:6469
,
lld:C0079541
;
a
sio:SIO_001121
.
}
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_provenance
{
dgn-np:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_assertion
dcterms:description
"[While these clinical features are consistent with common HPE microforms, especially those linked to defective signaling by Sonic Hedgehog, we have insufficient evidence so far that functionally abnormal DISP1 alleles will commonly contribute to the more severe features of typical HPE.]. 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:19184110
;
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:NP717801.RAqUpflcLZ5lR9qInkhdoNyMgjE1_0Uldd0wPiXfooHFA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:10+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" .
}