@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E
> .
@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:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_head
{
this:
np:hasAssertion
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_assertion
;
np:hasProvenance
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_provenance
;
np:hasPublicationInfo
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_assertion
a
np:Assertion
.
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_provenance
a
np:Provenance
.
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_assertion
{
miriam-gene:146
a
ncit:C16612
.
lld:C0234166
a
ncit:C7057
.
dgn-gda:DGNc1e55b2a0122aed1fd4556b48d000ca6
sio:SIO_000628
miriam-gene:146
,
lld:C0234166
;
a
sio:SIO_001121
.
}
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_provenance
{
dgn-np:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_assertion
dcterms:description
"[Mutations in the gene encoding the alpha-1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues.]. 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:12210885
;
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:NP293534.RASYBJRwLG2USqzPpNL3Esx_JNc3Fcb9FqxYoxRYklQ6E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:47+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" .
}