@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_head
{
this:
np:hasAssertion
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_assertion
;
np:hasProvenance
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_provenance
;
np:hasPublicationInfo
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_assertion
a
np:Assertion
.
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_provenance
a
np:Provenance
.
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_assertion
{
miriam-gene:6519
a
ncit:C16612
.
lld:C0268646
a
ncit:C7057
.
dgn-gda:DGN8af232cd96e50e299fa93c73ff85fe6c
sio:SIO_000628
miriam-gene:6519
,
lld:C0268646
;
a
sio:SIO_001121
.
}
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_provenance
{
dgn-np:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_assertion
dcterms:description
"[Since loss-of-function mutations in SLC3A1 are known to cause isolated cystinuria type I, and since the expression of the flanking genes, C2orf34 and PPM1B, was normal, the extended phenotype can be attributed to the deletion of PREPL.]. 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:16385448
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP564679.RA3ydA7hdGF36XjZiR1VIMv57_mJaxsUya-9hWnMkymc0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:40+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}