@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y
> .
@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/v4.0.0/void/
> .
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_head
{
this:
np:hasAssertion
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_assertion
;
np:hasProvenance
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_assertion
a
np:Assertion
.
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_provenance
a
np:Provenance
.
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_assertion
{
miriam-gene:7299
a
ncit:C16612
.
lld:C0078918
a
ncit:C7057
.
dgn-gda:DGNc880547d0d2633c0fe37ee0898de8723
sio:SIO_000628
miriam-gene:7299
,
lld:C0078918
;
a
sio:SIO_001121
.
}
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_provenance
{
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_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-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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 .
}
dgn-np:NP1219495.RAFuklUrtBpfintqY4ctOwbeuHMotlvT6MQumqHYuPZ8Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:58+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}