@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo
> .
@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:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_head
{
this:
np:hasAssertion
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_assertion
;
np:hasProvenance
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_provenance
;
np:hasPublicationInfo
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_assertion
a
np:Assertion
.
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_provenance
a
np:Provenance
.
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_assertion
{
miriam-gene:27130
a
ncit:C16612
.
lld:C0687120
a
ncit:C7057
.
dgn-gda:DGNca858bab063c755116220f1b62a2d91a
sio:SIO_000628
miriam-gene:27130
,
lld:C0687120
;
a
sio:SIO_001121
.
}
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_provenance
{
dgn-np:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_assertion
dcterms:description
"[The DNA sequence analysis of the polymerase chain reaction (PCR) detected no mutations in the NPHP2 (INVS) gene in this child, suggesting that new mutant genes might be responsible for the early onset of ESRD in infantile NPHP with features of JBTS.]. 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:17216245
;
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:NP274719.RAAlPd1_FAMJzzgkJmC5hlHkjKekjvRec5INv7BlHj1Lo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:34+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" .
}