@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ
> .
@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 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:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_head
{
this:
np:hasAssertion
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion
;
np:hasProvenance
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion
a
np:Assertion
.
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance
a
np:Provenance
.
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion
{
miriam-gene:1130
a
ncit:C16612
.
lld:C0007965
a
ncit:C7057
.
dgn-gda:DGNdb49d3a31efb6069398a1a6eb7db8b73
sio:SIO_000628
miriam-gene:1130
,
lld:C0007965
;
a
sio:SIO_001122
.
}
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_provenance
{
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_assertion
dc:description
"[In patients with severe childhood CHS, we found only functionally null mutant CHS1 alleles, whereas in patients with the adolescent and adult forms of CHS we also found missense mutant alleles that likely encode CHS1 polypeptides with partial function.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:11857544
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP3900.RAa_UWK8QUGKxWqXsGAMLC2lG2uecNqE8Db5YFPjfCitQ130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:59+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}