@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU
> .
@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:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_head
{
this:
np:hasAssertion
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_assertion
;
np:hasProvenance
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_provenance
;
np:hasPublicationInfo
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_assertion
a
np:Assertion
.
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_provenance
a
np:Provenance
.
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_assertion
{
miriam-gene:10568
a
ncit:C16612
.
lld:C3263719
a
ncit:C7057
.
dgn-gda:DGNd1d52707fd0e7e6e89f3ffaf35b193f9
sio:SIO_000628
miriam-gene:10568
,
lld:C3263719
;
a
sio:SIO_001121
.
}
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_provenance
{
dgn-np:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_assertion
dcterms:description
"[Genetic analysis revealed that both parents (a consanguineous marriage) of the proband were carriers with heterozygous mutation of SLC34A2 gene, and three of their children were diagnosed with PAM with homozygous mutation in the SLC34A2 gene.]. 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:20046000
;
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:NP356554.RAZdB-WjJqW3DeGkevXc0bMNDsGuV-isqyolUwQZNRFTU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:29+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" .
}