@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc
> .
@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:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_head
{
this:
np:hasAssertion
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_assertion
;
np:hasProvenance
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_assertion
a
np:Assertion
.
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_provenance
a
np:Provenance
.
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_assertion
{
miriam-gene:3815
a
ncit:C16612
.
lld:C0080024
a
ncit:C7057
.
dgn-gda:DGNd052df0aca8e0d90022527c45761e6ba
sio:SIO_000628
miriam-gene:3815
,
lld:C0080024
;
a
sio:SIO_001121
.
}
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_provenance
{
dgn-np:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_assertion
dcterms:description
"[Piebaldism is an autosomal dominant disorder characterized by the congenital absence of melanocytes in the affected areas of skin and hair due to mutations of the KIT protooncogene, which affects the differentiation and migration of melanoblasts.]. 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:24961053
;
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:NP1195253.RAAd9yTpMqy3xRdzvFuxkZcpQWbLQkQLOL0EtIHHw_-Rc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:47+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" .
}