@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I
> .
@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 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/v3.0.0/void/
> .
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_head
{
this:
np:hasAssertion
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_assertion
;
np:hasProvenance
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_provenance
;
np:hasPublicationInfo
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_assertion
a
np:Assertion
.
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_provenance
a
np:Provenance
.
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_assertion
{
miriam-gene:8481
a
ncit:C16612
.
lld:C1510460
a
ncit:C7057
.
dgn-gda:DGN10b4939657fcae7cf8a5d8c7c9a8389a
sio:SIO_000628
miriam-gene:8481
,
lld:C1510460
;
a
sio:SIO_001122
.
}
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_provenance
{
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_assertion
dcterms:description
"[Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:16397067
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP466.RA44Yzv-u-348kUCV6xpGGsmG94xOrj088vTxMSEk5_2I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:42+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
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}