@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA
> .
@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:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_head
{
this:
np:hasAssertion
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_assertion
;
np:hasProvenance
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_provenance
;
np:hasPublicationInfo
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_assertion
a
np:Assertion
.
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_provenance
a
np:Provenance
.
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_assertion
{
miriam-gene:7296
a
ncit:C16612
.
lld:C0220724
a
ncit:C7057
.
dgn-gda:DGN59703d06853e45085f1e59d4ab59424c
sio:SIO_000628
miriam-gene:7296
,
lld:C0220724
;
a
sio:SIO_001121
.
}
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_provenance
{
dgn-np:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_assertion
dcterms:description
"[Although causal mutations in the FGFR2 gene have been found in some patients, mutations in the electron donor enzyme P450 oxidoreductase gene (POR) have recently been found to cause ABS in other patients.]. 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:18853185
;
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:NP508629.RAogcDHdboqqmjHQfWi2e2CH6mcWWMjXcUjIiFuYjc-HA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:03+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" .
}