@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4
> .
@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:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_head
{
this:
np:hasAssertion
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_assertion
;
np:hasProvenance
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_assertion
a
np:Assertion
.
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_provenance
a
np:Provenance
.
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_assertion
{
miriam-gene:23607
a
ncit:C16612
.
lld:C0494463
a
ncit:C7057
.
dgn-gda:DGNf948e06b6cfca7630a89e90b1c5ceee3
sio:SIO_000628
miriam-gene:23607
,
lld:C0494463
;
a
sio:SIO_001122
.
}
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_provenance
{
dgn-np:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_assertion
dcterms:description
"[A stop-gain mutation in ABCA7 (E1679X) and missense mutation in CD2AP (K633R) were highly significant in Caucasian LOAD cases, and mutations in EPHA1 (P460L) and BIN1 (K358R) were significant in Caribbean Hispanic families with LOAD.]. 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:26101835
;
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:NP1288389.RAp6MKvhhxLPak1hC0kH-QdcW5zx0TNXqBpAvhZGUEfZ4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:30+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" .
}