@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4
> .
@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/v4.0.0/void/
> .
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_head
{
this:
np:hasAssertion
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion
;
np:hasProvenance
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion
a
np:Assertion
.
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance
a
np:Provenance
.
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion
{
miriam-gene:1285
a
ncit:C16612
.
lld:C0022658
a
ncit:C7057
.
dgn-gda:DGN5b9dc3b243b7c14da803159ab588e0b6
sio:SIO_000628
miriam-gene:1285
,
lld:C0022658
;
a
sio:SIO_001121
.
}
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_provenance
{
dgn-np:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_assertion
dcterms:description
"[We report a family that suffers an autosomal dominant Alport syndrome caused by a previously undescribed mutation in the COL4A3 gene, in which several members have hearing impairment as the only clinical manifestation, suggesting that in this family deafness can occur independent of renal disease.]. 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:25450602
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1242635.RAJYlZ_6qexYlxgHW26KIOz2cfmx0PJnvuKS9aPihrQv4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:09+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}