@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0
> .
@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/v3.0.0/void/
> .
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_head
{
this:
np:hasAssertion
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion
;
np:hasProvenance
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance
;
np:hasPublicationInfo
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion
a
np:Assertion
.
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance
a
np:Provenance
.
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion
{
miriam-gene:6519
a
ncit:C16612
.
lld:C0010691
a
ncit:C7057
.
dgn-gda:DGN3ec89e9d97d686814c8e4e34b8fc62a3
sio:SIO_000628
miriam-gene:6519
,
lld:C0010691
;
a
sio:SIO_001121
.
}
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_provenance
{
dgn-np:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_assertion
dcterms:description
"[Mutations in the SLC3A1 and SLC7A9 genes cause cystinuria (OMIM 220100), an autosomal recessive disorder of amino acid transport and reabsorption in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract.]. 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:18752446
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP696331.RAVHboQpSA6v77nOfoIMkEp4PgkKyRXZJ3QlZ6P5wa7Q0130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:40+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: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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}