@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs
> .
@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:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_head
{
this:
np:hasAssertion
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_assertion
;
np:hasProvenance
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_provenance
;
np:hasPublicationInfo
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_assertion
a
np:Assertion
.
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_provenance
a
np:Provenance
.
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_assertion
{
miriam-gene:5053
a
ncit:C16612
.
lld:C0085547
a
ncit:C7057
.
dgn-gda:DGN36d51ffde8c545ea87fd8ef231f7e067
sio:SIO_000628
miriam-gene:5053
,
lld:C0085547
;
a
sio:SIO_001121
.
}
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_provenance
{
dgn-np:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_assertion
dcterms:description
"[The exact mechanism of fetal damage in maternal phenylketonuria (PKU) is uncertain and although the fetus is heterozygotic for the gene coding for phenylalanine hydroxylase its immature hepatic enzyme system may be the reason for its inability to deal adequately with transplacental phenylalanine uptake.]. 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:2622813
;
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:NP1291532.RAIgUGhX80IXXwF8cL2tRIzdjeH5XdKKddupqms0iz4Gs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:31+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" .
}