@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ
> .
@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:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_head
{
this:
np:hasAssertion
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_assertion
;
np:hasProvenance
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_assertion
a
np:Assertion
.
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_provenance
a
np:Provenance
.
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGNd865cd9c1904738c79b25e18a9593546
sio:SIO_000628
miriam-gene:5053
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_provenance
{
dgn-np:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_assertion
dcterms:description
"[The majority of mutations in the human phenylalanine hydroxylase (PAH) gene that lead to the recessive disease phenylketonuria (PKU) are believed to affect the activity or stability of the PAH enzyme.]. 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:10471838
;
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:NP262069.RAr_ecS7fYa2cSi3qYFNA90lWi3rHF2LFPSMWh7P0SxCQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:44+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" .
}