@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs
> .
@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:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_head
{
this:
np:hasAssertion
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_assertion
;
np:hasProvenance
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_provenance
;
np:hasPublicationInfo
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_assertion
a
np:Assertion
.
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_provenance
a
np:Provenance
.
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751434
a
ncit:C7057
.
dgn-gda:DGN4f529bf014dedc629efead3ee6a1fa79
sio:SIO_000628
miriam-gene:5053
,
lld:C0751434
;
a
sio:SIO_001121
.
}
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_provenance
{
dgn-np:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_assertion
dcterms:description
"[Experimental data on a set of missense mutations of the enzyme phenylalanine hydroxylase (PAH) associated with the monogenic disease phenylketonuria (PKU) have been compared with the expected in vivo impact on protein function, obtained using SNPs3D, an in silico analysis package.]. 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:21953985
;
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:NP927007.RAdkG_g11Kr-KBedDmYB_yTII3FkqYD1g0HbxxO-UXQIs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:45+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" .
}