@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k
> .
@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:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_head
{
this:
np:hasAssertion
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_assertion
;
np:hasProvenance
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_provenance
;
np:hasPublicationInfo
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_assertion
a
np:Assertion
.
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_provenance
a
np:Provenance
.
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_assertion
{
miriam-gene:5644
a
ncit:C16612
.
lld:C0030305
a
ncit:C7057
.
dgn-gda:DGNbdf9dbab8b83bd58ce7cf6527dbff53c
sio:SIO_000628
miriam-gene:5644
,
lld:C0030305
;
a
sio:SIO_001122
.
}
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_provenance
{
dgn-np:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_assertion
dcterms:description
"[ Irrespective of the aetiology, mutations in the PRSS1 gene are not associated with chronic pancreatitis, including HP. In contrast, the N34S mutation in the SPINK1 gene shows a significant correlation in these patients. A comparable phenotype in terms of age of onset, diabetes mellitus, and other phenotypic features in patients with or without SPINK1 mutations and N34S homozygotes and heterozygotes suggests that there may still be involvement of other genetic or environmental factors.]. 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:15082592
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP52638.RAUP_2CnYO9dXih0rD0fb85mfNKg6mKUgq7qySVsf5v6k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
}