@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec
> .
@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/v3.0.0/void/
> .
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_head
{
this:
np:hasAssertion
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_assertion
;
np:hasProvenance
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_provenance
;
np:hasPublicationInfo
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_assertion
a
np:Assertion
.
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_provenance
a
np:Provenance
.
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_assertion
{
miriam-gene:94137
a
ncit:C16612
.
lld:C3150833
a
ncit:C7057
.
dgn-gda:DGNf38d7c61a5c38eebe3584b1ab4eb0596
sio:SIO_000628
miriam-gene:94137
,
lld:C3150833
;
a
sio:SIO_001121
.
}
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_provenance
{
dgn-np:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_assertion
dcterms:description
"[Although mutations in the RP1L1 gene have been described in several Japanese families with OMD, there were no such mutations in this white family of European descent, which suggests that inherited OMD is a genetically heterogeneous disorder.]. 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:23229695
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP963173.RA0bVu7wQNaofZaqS1KoWOUYsxJnEpJ9BsuljL4h3Mmec130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:28+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}