@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4
> .
@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/v3.0.0/void/
> .
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_head
{
this:
np:hasAssertion
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_assertion
;
np:hasProvenance
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_provenance
;
np:hasPublicationInfo
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_assertion
a
np:Assertion
.
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_provenance
a
np:Provenance
.
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_assertion
{
miriam-gene:2261
a
ncit:C16612
.
lld:C0265309
a
ncit:C7057
.
dgn-gda:DGNe2fb4aa633d52432fd2912477be77335
sio:SIO_000628
miriam-gene:2261
,
lld:C0265309
;
a
sio:SIO_001121
.
}
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_provenance
{
dgn-np:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_assertion
dcterms:description
"[Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are found in 40-70% of HCH cases.]. 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:11030412
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP401071.RA1RZnlqnfnpsYOzyyBd9CkAhqtWdwpERANpf5MlOaDi4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:33+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}