@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg
> .
@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/v3.0.0/void/
> .
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_head
{
this:
np:hasAssertion
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion
;
np:hasProvenance
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance
;
np:hasPublicationInfo
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion
a
np:Assertion
.
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance
a
np:Provenance
.
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion
{
miriam-gene:2260
a
ncit:C16612
.
lld:C1619700
a
ncit:C7057
.
dgn-gda:DGN048a884338a5d27dbcda915a63bc303e
sio:SIO_000628
miriam-gene:2260
,
lld:C1619700
;
a
sio:SIO_001121
.
}
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_provenance
{
dgn-np:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_assertion
dcterms:description
"[Clinical features in the remaining 11 cases with no demonstrable KAL1 or FGFR1 mutations included right renal aplasia in one female, cleft palate in one male, cleft palate and perceptive deafness in one male, and dental agenesis and perceptive deafness in one male, in addition to a variable extent of HH and olfactory dysfunction.]. 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:15001591
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP400696.RAIoEdiVdyAfoDU9t3qseyS0U8rcs0cEigwXqwKkGN4qg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:33+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}