@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI
> .
@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:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_head
{
this:
np:hasAssertion
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_assertion
;
np:hasProvenance
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_provenance
;
np:hasPublicationInfo
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_assertion
a
np:Assertion
.
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_provenance
a
np:Provenance
.
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_assertion
{
miriam-gene:540
a
ncit:C16612
.
lld:C0019202
a
ncit:C7057
.
dgn-gda:DGNed3d1aa1b14451da7aef74a93efb48e1
sio:SIO_000628
miriam-gene:540
,
lld:C0019202
;
a
sio:SIO_001121
.
}
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_provenance
{
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_assertion
dcterms:description
"[Wilson's disease (WD) is characterized by impaired hepatic copper secretion and subsequent copper accumulation in many organs predominantly liver and brain, secondary to loss of function mutations in the copper transport protein ATP7B.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:16607473
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP9452.RAIWMKARyhfJRtlM9cdpDfm5dfpfEraebm99R7_R3M5CI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:02+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" .
}