@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0
> .
@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:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_head
{
this:
np:hasAssertion
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_assertion
;
np:hasProvenance
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_provenance
;
np:hasPublicationInfo
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_assertion
a
np:Assertion
.
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_provenance
a
np:Provenance
.
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNdabc0cc4d0d2447d2e3667a57e9ae3e6
sio:SIO_000628
miriam-gene:55636
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_provenance
{
dgn-np:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_assertion
dcterms:description
"[This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage.]. 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:19772954
;
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:NP625935.RAAalShQhm_Hzw_ESkCc_UuKiICbUhUa-aoototUM2CV0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:18+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" .
}