@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ
> .
@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:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_head
{
this:
np:hasAssertion
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_assertion
;
np:hasProvenance
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_assertion
a
np:Assertion
.
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_provenance
a
np:Provenance
.
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_assertion
{
miriam-gene:10913
a
ncit:C16612
.
lld:C1720965
a
ncit:C7057
.
dgn-gda:DGNbc5d7d7848d5954957951c50dfb3ffc1
sio:SIO_000628
miriam-gene:10913
,
lld:C1720965
;
a
sio:SIO_001121
.
}
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_provenance
{
dgn-np:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_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:NP727297.RAaHcywtxQIkvUJARHyy3l9AyQsnUfhVX8vz-HePqb4jQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:21+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" .
}