@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo
> .
@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:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_head
{
this:
np:hasAssertion
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_assertion
;
np:hasProvenance
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_provenance
;
np:hasPublicationInfo
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_assertion
a
np:Assertion
.
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_provenance
a
np:Provenance
.
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_assertion
{
miriam-gene:51172
a
ncit:C16612
.
lld:C0085078
a
ncit:C7057
.
dgn-gda:DGN9bc62a4a8dc8f5963bdf5c9766bee51b
sio:SIO_000628
miriam-gene:51172
,
lld:C0085078
;
a
sio:SIO_001121
.
}
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_provenance
{
dgn-np:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_assertion
dcterms:description
"[Although mutations in NAGPA have not been associated with a disorder in humans, mutations in GNPTAB and GNPTG cause mucolipidosis types II and III, which are rare autosomal recessive lysosomal storage disorders, associated with pathology of bone, connective tissue, liver, spleen, and brain.]. 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:22884963
;
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:NP167880.RALLnrC0Oeeg9oczgY6P2NbQDNGZia8oeihcFk-bOaAwo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:31+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" .
}