@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k
> .
@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:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_head
{
this:
np:hasAssertion
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_assertion
;
np:hasProvenance
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_provenance
;
np:hasPublicationInfo
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_assertion
a
np:Assertion
.
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_provenance
a
np:Provenance
.
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_assertion
{
miriam-gene:1758
a
ncit:C16612
.
lld:C0733682
a
ncit:C7057
.
dgn-gda:DGN2153d6f5aeb7f4d93f05e6c50d7a394f
sio:SIO_000628
miriam-gene:1758
,
lld:C0733682
;
a
sio:SIO_001122
.
}
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_provenance
{
dgn-np:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_assertion
dcterms:description
"[A novel DMP1 deletion is identified as the cause of autosomal recessive hypophosphatemic rickets, as well as demonstrated that the ARHR mutations alter DMP1 cellular processing, and that DMP1 can be regulated by vitamin D.]. 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:19007919
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP152341.RAGS8eohifG0VMi-tSZtcY8vN_AekEHWxHx7mq3dK1H9k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:21+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" .
}