@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8
> .
@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:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_head
{
this:
np:hasAssertion
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_assertion
;
np:hasProvenance
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_provenance
;
np:hasPublicationInfo
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_assertion
a
np:Assertion
.
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_provenance
a
np:Provenance
.
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_assertion
{
miriam-gene:353
a
ncit:C16612
.
lld:C0268575
a
ncit:C7057
.
dgn-gda:DGN480a232f2192579b966520b5d35643c0
sio:SIO_000628
miriam-gene:353
,
lld:C0268575
;
a
sio:SIO_001121
.
}
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_provenance
{
dgn-np:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_assertion
dcterms:description
"[The N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene, which is responsible for autosomal recessive mucopolysaccharidosis IVA (MPSIVA), has been assigned to the long arm of chromosome 16, subregion 24.3, an area where the adenine phosophoribosyltransferase (APRT) gene and renal dipeptidase (DPEP I) gene are also localized.]. 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:8829629
;
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:NP421107.RAxRe47F3otzYwSCD0DG93S2qymEbJx6_qDVAENRuOlc8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:10+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" .
}