@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c
> .
@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:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_head
{
this:
np:hasAssertion
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion
;
np:hasProvenance
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance
;
np:hasPublicationInfo
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion
a
np:Assertion
.
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance
a
np:Provenance
.
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0751435
a
ncit:C7057
.
dgn-gda:DGNcf53eb1a94e13a97e2cf1d9e9d10e2a0
sio:SIO_000628
miriam-gene:5053
,
lld:C0751435
;
a
sio:SIO_001121
.
}
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_provenance
{
dgn-np:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_assertion
dcterms:description
"[Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydroxylase and depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases.]. 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:9744478
;
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:NP1404282.RAwbShaZP3hFsXuBrBfVXzjOcZO0Lhmg3zo8yRl1Lw03c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:23+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" .
}