@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY
> .
@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:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_head
{
this:
np:hasAssertion
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
;
np:hasProvenance
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
;
np:hasPublicationInfo
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
a
np:Assertion
.
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
a
np:Provenance
.
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
{
miriam-gene:7390
a
ncit:C16612
.
lld:C0162530
a
ncit:C7057
.
dgn-gda:DGN6533b9e3f2fd74c7b17aabb067c48ac6
sio:SIO_000628
miriam-gene:7390
,
lld:C0162530
;
a
sio:SIO_001121
.
}
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_provenance
{
dgn-np:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_assertion
dcterms:description
"[These advances have also led to the identification of causative genetic defects in patients who, based on molecular studies, had no mutations in the uroporphyrinogen III synthase gene UROS (in CEP) or in the ferrochelatase gene FECH (in EPP).]. 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:22766189
;
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:NP995391.RALC5YkcXQLfSgPVHKdcfTORW5z4gtQ6F8MvCJtTCP3GY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:16+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" .
}