@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE
> .
@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:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_head
{
this:
np:hasAssertion
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_assertion
;
np:hasProvenance
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_provenance
;
np:hasPublicationInfo
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_assertion
a
np:Assertion
.
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_provenance
a
np:Provenance
.
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0158646
a
ncit:C7057
.
dgn-gda:DGN46bfc0f58c8ddde67216b7b54ed0d5c4
sio:SIO_000628
miriam-gene:55636
,
lld:C0158646
;
a
sio:SIO_001121
.
}
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_provenance
{
dgn-np:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_assertion
dcterms:description
"[Considering the large prevalence and clinical spectrum of CHD7 mutations, it will be particularly relevant to genetic counseling to search for mutations in this gene in KS patients seeking fertility treatment, especially if KS is associated with deafness and cleft lip/palate.]. 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:25077900
;
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:NP919651.RA5j_VaoLhr9m9Dj5HUcuTXMP7j5qSkVWdFAeOe_NKosE130_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" .
}