@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao
> .
@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:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_head
{
this:
np:hasAssertion
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_assertion
a
np:Assertion
.
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_provenance
a
np:Provenance
.
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_assertion
{
miriam-gene:10970
a
ncit:C16612
.
lld:C2931019
a
ncit:C7057
.
dgn-gda:DGN8c192701034b754a8852d899ebe43e7b
sio:SIO_000628
miriam-gene:10970
,
lld:C2931019
;
a
sio:SIO_001121
.
}
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_provenance
{
dgn-np:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_assertion
dcterms:description
"[Interestingly, the human p63 gene is mutated in children who have the disease Ectrodactyly, Ectodermal dysplasia and facial Clefts (EEC) syndrome, and the disease phenotype is similar to the one of p63-deficient mice.]. 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:10769197
;
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:NP281488.RAO86YST4WsXS-UjocsYObIqkGD9xqxMg1qUPCR4y41ao130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:53+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" .
}