@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0
> .
@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:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_head
{
this:
np:hasAssertion
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_assertion
;
np:hasProvenance
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_assertion
a
np:Assertion
.
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_provenance
a
np:Provenance
.
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_assertion
{
miriam-gene:2697
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNfc1f9e894a0404db9ffd1eefc231b290
sio:SIO_000628
miriam-gene:2697
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_provenance
{
dgn-np:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_assertion
dcterms:description
"[Missense mutations of the GJA1 gene encoding the gap junction channel protein connexin43 (Cx43) cause bone malformations resulting in oculodentodigital dysplasia (ODDD), while GJA1 null and ODDD mutant mice develop osteopenia.]. 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:25933380
;
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:NP1281915.RASU2gNCxCZtjf8PtMFlCnVLZWwlPrTgM4mI0nX8VJVP0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:27+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" .
}