@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE
> .
@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:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_head
{
this:
np:hasAssertion
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_assertion
;
np:hasProvenance
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_provenance
;
np:hasPublicationInfo
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_assertion
a
np:Assertion
.
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_provenance
a
np:Provenance
.
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_assertion
{
miriam-gene:1180
a
ncit:C16612
.
lld:C0751360
a
ncit:C7057
.
dgn-gda:DGN2479e53d8bec23a699e518bfde486390
sio:SIO_000628
miriam-gene:1180
,
lld:C0751360
;
a
sio:SIO_001122
.
}
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_provenance
{
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_assertion
dcterms:description
"[Mutations in the gene encoding this chloride channel (CLCN1) are responsible for both human purely myotonic disorders, autosomal recessive generalized myotonia (Becker's disease, GM) and autosomal dominant myotonia congenita (Thomsen's disease, MC).]. 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:7951242
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP8632.RAO8H9h0fRyGRGRYnE0hC5mTEgJ6kIKbG6aOEe1Pq86AE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:53+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" .
}