@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg
> .
@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:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_head
{
this:
np:hasAssertion
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_assertion
;
np:hasProvenance
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_provenance
;
np:hasPublicationInfo
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_assertion
a
np:Assertion
.
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_provenance
a
np:Provenance
.
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_assertion
{
miriam-gene:7390
a
ncit:C16612
.
lld:C0025521
a
ncit:C7057
.
dgn-gda:DGN020b6867781a46a32d06300f78771b28
sio:SIO_000628
miriam-gene:7390
,
lld:C0025521
;
a
sio:SIO_001121
.
}
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_provenance
{
dgn-np:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_assertion
dcterms:description
"[Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of the fourth enzyme in the heme biosynthetic pathway, uroporphyrinogen III synthase (URO-synthase).]. 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:8829650
;
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:NP907986.RA9hoE-RHSKNnse_ob7pvlT6T7fuD1MsL2n44BbX46Wxg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:17+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" .
}