@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw
> .
@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:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_head
{
this:
np:hasAssertion
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion
;
np:hasProvenance
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance
;
np:hasPublicationInfo
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion
a
np:Assertion
.
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance
a
np:Provenance
.
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion
{
miriam-gene:6120
a
ncit:C16612
.
lld:C0162835
a
ncit:C7057
.
dgn-gda:DGN01fb30643ddbf3bf8c822981a3f3e635
sio:SIO_000628
miriam-gene:6120
,
lld:C0162835
;
a
sio:SIO_001121
.
}
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_provenance
{
dgn-np:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_assertion
dcterms:description
"[lbk displays hypopigmentation of skin melanocytes and the retinal pigment epithelium (RPE), an absence of iridophore reflections, defects in internal organs (liver, intestine) as well as functional defects in vision and the innate immune system (macrophages).]. 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:18077594
;
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:NP504793.RAQzZZkHF1BdiuSt5Er4aKzfI8ZcJGE4xw9AKifDDrtvw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:00+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" .
}