@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70
> .
@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:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_head
{
this:
np:hasAssertion
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_assertion
;
np:hasProvenance
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_provenance
;
np:hasPublicationInfo
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_assertion
a
np:Assertion
.
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_provenance
a
np:Provenance
.
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_assertion
{
miriam-gene:8026
a
ncit:C16612
.
lld:C0685891
a
ncit:C7057
.
dgn-gda:DGN18f3285835f4e7d2f20a585c9f21dbdb
sio:SIO_000628
miriam-gene:8026
,
lld:C0685891
;
a
sio:SIO_001121
.
}
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_provenance
{
dgn-np:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_assertion
dcterms:description
"[The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.]. 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:12110949
;
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:NP660799.RAFMe9n_GhV2UoBwi07oLu6cmepH4LX590_sGRzGazZ70130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:39+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" .
}