@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo
> .
@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:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_head
{
this:
np:hasAssertion
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion
;
np:hasProvenance
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance
;
np:hasPublicationInfo
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion
a
np:Assertion
.
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance
a
np:Provenance
.
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGNd981f6568a2645a8f84af0a5cf779d97
sio:SIO_000628
miriam-gene:6473
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_provenance
{
dgn-np:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_assertion
dcterms:description
"[However, the only known disease gene within the pseudoautosomal regions is the SHORT STATURE HOMEBOX (SHOX) gene, functional loss of which is causally related to various short stature conditions and disturbed bone development.]. 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:16650979
;
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:NP547689.RA4AAmRaG06blBMYE5Hc4dNagRidPXvojzoMVcR6sk-Wo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:53+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" .
}