@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ
> .
@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:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_head
{
this:
np:hasAssertion
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_assertion
;
np:hasProvenance
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_assertion
a
np:Assertion
.
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_provenance
a
np:Provenance
.
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_assertion
{
miriam-gene:10913
a
ncit:C16612
.
lld:C0162359
a
ncit:C7057
.
dgn-gda:DGN7921d8243f804d585cbc5c4cd5e859ae
sio:SIO_000628
miriam-gene:10913
,
lld:C0162359
;
a
sio:SIO_001121
.
}
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_provenance
{
dgn-np:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_assertion
dcterms:description
"[Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.]. 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:19551394
;
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:NP790649.RAsLIARYZyycsENWxdwM37VnygNi8Q9GelM2nOu3ctQbQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:05+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" .
}