@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w
> .
@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:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_head
{
this:
np:hasAssertion
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_assertion
;
np:hasProvenance
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_provenance
;
np:hasPublicationInfo
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_assertion
a
np:Assertion
.
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_provenance
a
np:Provenance
.
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0265354
a
ncit:C7057
.
dgn-gda:DGNf1b345bf41de8779359cc906f7dfc529
sio:SIO_000628
miriam-gene:55636
,
lld:C0265354
;
a
sio:SIO_001121
.
}
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_provenance
{
dgn-np:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_assertion
dcterms: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_literature
;
sio:SIO_000772
miriam-pubmed:15300250
;
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:NP455073.RAeyvT0gpvob0QTcyBFcxudM3mlNxMBXng5DBvJCI8q4w130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:11+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" .
}