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> .
@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:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_head
{
this:
np:hasAssertion
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;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion
a
np:Assertion
.
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance
a
np:Provenance
.
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion
{
miriam-gene:2736
a
ncit:C16612
.
lld:C0242343
a
ncit:C7057
.
dgn-gda:DGN286bb74b7c3082b5c9fb026a0521482d
sio:SIO_000628
miriam-gene:2736
,
lld:C0242343
;
a
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.
}
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_provenance
{
dgn-np:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_assertion
dcterms:description
"[We describe three novel heterozygous frameshift or nonsense GLI2 mutations, predicting truncated proteins lacking the activator domain, associated with IGHD or combined pituitary hormone deficiency and ectopic posterior pituitary lobe without 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:20685856
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
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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:NP830761.RAFOrtjlJSJcJEJvJjcGe8yzbxFAa-hiAK2Jfal09zndk130_publicationInfo
{
this:
dcterms:created
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xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
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pav:authoredBy
<
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> , <
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> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
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"v4.0.0" .
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