@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0
> .
@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:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_head
{
this:
np:hasAssertion
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_assertion
;
np:hasProvenance
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_provenance
;
np:hasPublicationInfo
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_assertion
a
np:Assertion
.
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_provenance
a
np:Provenance
.
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_assertion
{
miriam-gene:10913
a
ncit:C16612
.
lld:C0162359
a
ncit:C7057
.
dgn-gda:DGNd146920663b5f0e10c6811e009ec8716
sio:SIO_000628
miriam-gene:10913
,
lld:C0162359
;
a
sio:SIO_001121
.
}
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_provenance
{
dgn-np:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_assertion
dcterms:description
"[X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes.]. 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:21332691
;
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:NP709418.RAIEfekmmMC1vNLBc-XsPjbzN7cahDt1DCKNr5hudBAc0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:11+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" .
}