@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4
> .
@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:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_head
{
this:
np:hasAssertion
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_assertion
;
np:hasProvenance
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_provenance
;
np:hasPublicationInfo
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_assertion
a
np:Assertion
.
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_provenance
a
np:Provenance
.
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_assertion
{
miriam-gene:721
a
ncit:C16612
.
lld:C0852654
a
ncit:C7057
.
dgn-gda:DGN38decb2d2018e83223b3fa13679a2983
sio:SIO_000628
miriam-gene:721
,
lld:C0852654
;
a
sio:SIO_001121
.
}
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_provenance
{
dgn-np:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_assertion
dcterms:description
"[We speculate that the presence of the 6.8-kb insert in the human C4A and some C4B genes might largely be responsible for the great instability of this chromosomal region which leads to frequent duplications and deletions, some of which cause 21-hydroxylase deficiency.]. 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:2347361
;
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:NP708854.RAUH-ho2ITt24p22SrChHofLHYPTMrFJmj8swIHRnZTU4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:10+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" .
}