@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ
> .
@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 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:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_head
{
this:
np:hasAssertion
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion
;
np:hasProvenance
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion
a
np:Assertion
.
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance
a
np:Provenance
.
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0265354
a
ncit:C7057
.
dgn-gda:DGN750dcf8b790091972bf48b81848d405d
sio:SIO_000628
miriam-gene:55636
,
lld:C0265354
;
a
sio:SIO_001122
.
}
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_provenance
{
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_assertion
dct:description
"[Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15300250
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP1102.RAXDPs9jL9shj_CqVfXLiHJcaN6AlFmwHBpWtfYa5PwpQ130_publicationInfo
{
this:
dct:created
"2014-10-02T12:31:58+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}