@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To
> .
@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:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_head
{
this:
np:hasAssertion
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_assertion
;
np:hasProvenance
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_provenance
;
np:hasPublicationInfo
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_assertion
a
np:Assertion
.
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_provenance
a
np:Provenance
.
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_assertion
{
miriam-gene:7306
a
ncit:C16612
.
lld:C0268495
a
ncit:C7057
.
dgn-gda:DGN3a2b00fc20c0b34127a084988b597398
sio:SIO_000628
miriam-gene:7306
,
lld:C0268495
;
a
sio:SIO_001121
.
}
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_provenance
{
dgn-np:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_assertion
dcterms:description
"[In at least two cases, it has occurred in the same families as tyrosinase-positive oculocutaneous albinism (OCA2), suggesting that it may be allelic, despite the fact that this phenotype was attributed to mutations in the TYRP1 gene in an American individual of mixed ancestry.]. 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:11179026
;
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:NP928593.RAKChlxWHdIO90x6CO6TcFtc-kXfOAc3FOeXs8wR4y0To130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:29+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" .
}