@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_head
{
this:
np:hasAssertion
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_assertion
;
np:hasProvenance
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_provenance
;
np:hasPublicationInfo
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_assertion
a
np:Assertion
.
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_provenance
a
np:Provenance
.
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C0812437
a
ncit:C7057
.
dgn-gda:DGN430a96bb5d91f87f5a291b0a3d292999
sio:SIO_000628
miriam-gene:146
,
lld:C0812437
;
a
sio:SIO_001121
.
}
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_provenance
{
dgn-np:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_assertion
dcterms:description
"[Oculodentodigital dysplasia (ODDD) is an autosomal dominant disorder characterized by pleiotropic developmental anomalies of the limbs, teeth, face and eyes that was shown recently to be caused by mutations in the gap junction protein alpha 1 gene (GJA1), encoding connexin 43 (Cx43).]. 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:16155213
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP558636.RAzfiTTao-qd_yDlsPIaiki4ZY9OFnOIa48Fvc_5PonlU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:37+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}