@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84
> .
@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:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_head
{
this:
np:hasAssertion
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_assertion
;
np:hasProvenance
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_provenance
;
np:hasPublicationInfo
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_assertion
a
np:Assertion
.
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_provenance
a
np:Provenance
.
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_assertion
{
miriam-gene:4867
a
ncit:C16612
.
lld:C1855681
a
ncit:C7057
.
dgn-gda:DGNf182fedee23488654ee060e90d33de59
sio:SIO_000628
miriam-gene:4867
,
lld:C1855681
;
a
sio:SIO_001121
.
}
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_provenance
{
dgn-np:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_assertion
dcterms:description
"[On the basis of identification of the gene (NPHP1) defective in NPH1 and the presence of homozygous deletions of NPHP1 in the majority of NPH1 patients, molecular genetic diagnosis for NPH1 is now possible.]. 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:11168925
;
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:NP306591.RANnS4Aj3QnR5ULAQDI9S9sIUUTn-KWrzd-l3Nfr8lU84130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:04+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" .
}