@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48
> .
@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:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_head
{
this:
np:hasAssertion
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_assertion
;
np:hasProvenance
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_provenance
;
np:hasPublicationInfo
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_assertion
a
np:Assertion
.
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_provenance
a
np:Provenance
.
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0009402
a
ncit:C7057
.
dgn-gda:DGN63a98f5221279e69887b5eb574f8be31
sio:SIO_000628
miriam-gene:55636
,
lld:C0009402
;
a
sio:SIO_001121
.
}
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_provenance
{
dgn-np:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_assertion
dcterms:description
"[Genes altered in patients with CHARGE syndrome (congenital malformations involving the central nervous system, eye, ear, nose, and mediastinal organs) who had CHD7 mutations were also altered in CRCs with mutations in CHD7.]. 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:24211491
;
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:NP919620.RAhq0tdmFm3QO3IP4AgjVU1pKNw55F_6vMgV_M85NyZ48130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:01+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" .
}