@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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http://www.w3.org/2001/XMLSchema#
> .
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http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
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http://linkedlifedata.com/resource/umls/id/
> .
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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#
> .
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{
this:
np:hasAssertion
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_assertion
a
np:Assertion
.
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_provenance
a
np:Provenance
.
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_publicationInfo
a
np:PublicationInfo
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{
miriam-gene:4350
a
ncit:C16612
.
lld:C1801950
a
ncit:C7057
.
dgn-gda:DGNdaad4b5402f3d848ef8c934279dc143e
sio:SIO_000628
miriam-gene:4350
,
lld:C1801950
;
a
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.
}
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_provenance
{
dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_assertion
dcterms:description
"[The mild phenotype of the patient with the microduplication suggests that MID1 mutations can be found in patients with hypertelorism with or without other clinical signs and MID1 alterations might be missed in individuals not fulfilling the minimal criteria for diagnosis of X-linked Opitz G/BBB syndrome.]. 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:23354372
;
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 .
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dgn-np:NP492574.RADp_Ctsltzcpa9nwH0cVW9ul9OP87oEbBhlzSKR5tkrk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:54+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
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dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
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pav:authoredBy
<
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> , <
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> , <
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> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
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