@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_assertion
a
np:Assertion
.
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_provenance
a
np:Provenance
.
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_assertion
{
miriam-gene:29914
a
ncit:C16612
.
lld:C0271287
a
ncit:C7057
.
dgn-gda:DGN84782f008cc802f8847618b5e8a32fe3
sio:SIO_000628
miriam-gene:29914
,
lld:C0271287
;
a
sio:SIO_001121
.
}
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_provenance
{
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_assertion
dcterms:description
"[However, missense mutations in UBIAD1, located just outside of the originally described SCCD fine mapped region, were identified in each of the three families with SCCD, confirming that mutations in UBIAD1 are associated with SCCD.]. 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:17960116
;
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 .
}
dgn-np:NP604389.RAIgCpIZij4_x7yaiAVT_6Hy9jMSBimNT4z_Sdzdf1FUY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:03+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
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"v2.1.0" .
}