@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_head
{
this:
np:hasAssertion
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_assertion
;
np:hasProvenance
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_provenance
;
np:hasPublicationInfo
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_assertion
a
np:Assertion
.
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_provenance
a
np:Provenance
.
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_assertion
{
miriam-gene:24
a
ncit:C16612
.
lld:C1855465
a
ncit:C7057
.
dgn-gda:DGN00e03ef159fa9c58dfb6bc64345886bf
sio:SIO_000628
miriam-gene:24
,
lld:C1855465
;
a
sio:SIO_001121
.
}
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_provenance
{
dgn-np:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_assertion
dcterms:description
"[Various combinations of relatively rare retinal disorders such as STGD, CRD, and RP in one family may not be as uncommon as once believed, in view of the relatively high carrier frequency of ABCA4 mutations (about 5%) in the general population.]. 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:15019334
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP408789.RAJiELc4VCUVq6iJhy47aghSir7K8p6BKjZvGwevVffjs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:03+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}