@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU
> .
@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:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_head
{
this:
np:hasAssertion
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion
;
np:hasProvenance
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance
;
np:hasPublicationInfo
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion
a
np:Assertion
.
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance
a
np:Provenance
.
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion
{
miriam-gene:1896
a
ncit:C16612
.
lld:C0162359
a
ncit:C7057
.
dgn-gda:DGNcc2630f14cbfa257ae3fa4fb6b7efe80
sio:SIO_000628
miriam-gene:1896
,
lld:C0162359
;
a
sio:SIO_001121
.
}
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance
{
dgn-np:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion
dcterms:description
"[Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED.]. 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:19061621
;
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:NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:06+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" .
}