@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k
> .
@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:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_head
{
this:
np:hasAssertion
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion
;
np:hasProvenance
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance
;
np:hasPublicationInfo
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion
a
np:Assertion
.
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance
a
np:Provenance
.
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion
{
miriam-gene:8546
a
ncit:C16612
.
lld:C0078918
a
ncit:C7057
.
dgn-gda:DGN7d0a4a5feacbc1004cf3b128e8dd492e
sio:SIO_000628
miriam-gene:8546
,
lld:C0078918
;
a
sio:SIO_001121
.
}
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_provenance
{
dgn-np:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_assertion
dcterms:description
"[Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutations in these genes when albinism is observed.]. 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:25312756
;
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:NP1229115.RAHcWwxFauTIWUs3i9yDCsV9dA1qIAVcBgP8c7-CTk45k130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:03+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" .
}