@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw
> .
@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/
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_publicationInfo
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a
np:Nanopublication
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a
np:Assertion
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dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion
{
miriam-gene:54941
a
ncit:C16612
.
lld:C1290884
a
ncit:C7057
.
dgn-gda:DGN5052c795449d0af6e05a6d2dbbd94f32
sio:SIO_000628
miriam-gene:54941
,
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;
a
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.
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dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_provenance
{
dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_assertion
dcterms:description
"[We identified one de novo deletion and three missense mutations in RNF125 in six patients from four families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjögren syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
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sio:SIO_000772
miriam-pubmed:25196541
;
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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 .
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dgn-np:NP1217765.RAG_eXhewqphvFTx9xRVhcnesvk70KCvZ26H6P7v8ptCw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:58+02:00"^^
xsd:dateTime
;
dcterms:rights
<
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> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
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pav:authoredBy
<
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> , <
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> , <
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http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
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