@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU
> .
@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:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_head
{
this:
np:hasAssertion
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_assertion
;
np:hasProvenance
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_assertion
a
np:Assertion
.
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_provenance
a
np:Provenance
.
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_assertion
{
miriam-gene:4204
a
ncit:C16612
.
lld:C1846058
a
ncit:C7057
.
dgn-gda:DGN521af9fe665d5a534f11416c43657255
sio:SIO_000628
miriam-gene:4204
,
lld:C1846058
;
a
sio:SIO_001121
.
}
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_provenance
{
dgn-np:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_assertion
dcterms:description
"[Two severe, progressive neurological disorders characterized by intellectual disability, autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome, result from loss and gain of function, respectively, of the same critical gene, methyl-CpG-binding protein 2 (MECP2).]. 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:26237041
;
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:NP1291697.RAGkCo4xdXUfztaoDJaN1pOa1lM-fkxjll5bxlRNdSaYU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:31+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" .
}