@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1088321.RAfhhuDXupzrn9iWdoaeEL_El-5OsSvURwVDuSq612bSc
> .
@prefix sub: <
http://rdf.disgenet.org/resource/nanopub/NP1088321.RAfhhuDXupzrn9iWdoaeEL_El-5OsSvURwVDuSq612bSc#
> .
@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 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-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v5.0.0/void/
> .
sub:head
{
this:
np:hasAssertion
sub:assertion
;
np:hasProvenance
sub:provenance
;
np:hasPublicationInfo
sub:publicationInfo
;
a
np:Nanopublication
.
}
sub:assertion
{
dgn-gda:DGNbdfe7ee5b53e0676761fe0bdbffa80bd
sio:SIO_000628
miriam-gene:7299
,
lld:C0078918
;
a
sio:SIO_001122
.
}
sub:provenance
{
sub:assertion
dcterms:description
"[Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.]. 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:25216246
;
prov:wasDerivedFrom
dgn-void:BEFREE
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:BEFREE
pav:importedOn
"2017-02-19"^^
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 .
}
sub:publicationInfo
{
this:
dcterms:created
"2017-10-17T13:17:08+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
"v5.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v5.0.0" .
}