@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4
> .
@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:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_head
{
this:
np:hasAssertion
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_assertion
;
np:hasProvenance
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_provenance
;
np:hasPublicationInfo
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_assertion
a
np:Assertion
.
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_provenance
a
np:Provenance
.
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_assertion
{
miriam-gene:3106
a
ncit:C16612
.
lld:C0001627
a
ncit:C7057
.
dgn-gda:DGN7c55ad7905ba8bb81e44627227ea34e1
sio:SIO_000628
miriam-gene:3106
,
lld:C0001627
;
a
sio:SIO_001122
.
}
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_provenance
{
dgn-np:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_assertion
dcterms:description
"[phenomenon of strong association between the HLA B14 allele and the CYP21 V281L mutation found in this congenital adrenal hyperplasia population study can be used to distinguish between homozygote and hemizygote carrying the V281L mutation ]. 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:17551464
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP150639.RAENzWzqbG-Wl6VDbGUScfi3psajEy3Sr9_q6oifkz_B4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:20+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" .
}