@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig
> .
@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:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_head
{
this:
np:hasAssertion
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion
;
np:hasProvenance
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance
;
np:hasPublicationInfo
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion
a
np:Assertion
.
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance
a
np:Provenance
.
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion
{
miriam-gene:1590
a
ncit:C16612
.
lld:C0520463
a
ncit:C7057
.
dgn-gda:DGN72e5cbb92c5aabe6ddda8bbb88140d49
sio:SIO_000628
miriam-gene:1590
,
lld:C0520463
;
a
sio:SIO_001121
.
}
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_provenance
{
dgn-np:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_assertion
dcterms:description
"[A major challenge in molecular diagnostics of CAH is the high homology between the CYP21 gene and the CYP21P pseudogene and the phenomenon of apparent gene conversion, which inactivates the functional gene.]. 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:9761237
;
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:NP1405142.RAxFN3r3AR0LC1ocKN7bE2ppOqfrCpFqPo2ddZc3LeVig130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:23+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" .
}