@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY
> .
@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/
> .
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_head
{
this:
np:hasAssertion
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_assertion
;
np:hasProvenance
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_provenance
;
np:hasPublicationInfo
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_assertion
a
np:Assertion
.
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_provenance
a
np:Provenance
.
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_assertion
{
miriam-gene:1800
a
ncit:C16612
.
lld:C0026703
a
ncit:C7057
.
dgn-gda:DGN4cb2d401107107764366e6ef1e433289
sio:SIO_000628
miriam-gene:1800
,
lld:C0026703
;
a
sio:SIO_001121
.
}
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_provenance
{
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_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-2016
;
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 .
}
dgn-np:NP1358533.RAsqkSoE2PIqclAxEnM4Tb05_guUtl-P1mv28EVzJd_hY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:02+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}