@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM
> .
@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#
> .
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_head
{
this:
np:hasAssertion
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion
;
np:hasProvenance
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance
;
np:hasPublicationInfo
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion
a
np:Assertion
.
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance
a
np:Provenance
.
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion
{
miriam-gene:760
a
ncit:C16612
.
lld:C1446648
a
ncit:C7057
.
dgn-gda:DGNd0c347bcd6ccf1ebd26f02d1d53d3fbc
sio:SIO_000628
miriam-gene:760
,
lld:C1446648
;
a
sio:SIO_001121
.
}
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_provenance
{
dgn-np:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_assertion
dcterms:description
"[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) 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:15327960
;
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:NP197757.RAfMOajFvqRxRFx-DEQgsKOVFeuoOxCB0KdhZAgS835OM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:49+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
pav:version
"v2.1.0" .
}