@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w
> .
@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:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_head
{
this:
np:hasAssertion
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_assertion
;
np:hasProvenance
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_provenance
;
np:hasPublicationInfo
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_assertion
a
np:Assertion
.
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_provenance
a
np:Provenance
.
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_assertion
{
miriam-gene:6520
a
ncit:C16612
.
lld:C0026848
a
ncit:C7057
.
dgn-gda:DGNed1ae5ac759871ecdbd1466a3fb1ae85
sio:SIO_000628
miriam-gene:6520
,
lld:C0026848
;
a
sio:SIO_001121
.
}
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_provenance
{
dgn-np:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_assertion
dcterms:description
"[Heterozygous dominant missense mutations in myosin heavy chain genes cause various types of cardiomyopathy and skeletal myopathy, but the effects of myosin heavy chain null mutations in humans have not previously been reported.]. 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:20418530
;
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:NP171155.RAWDBI0qUeEFs9rIeSSy69OUhA-fr2wrf7JY7YknTzk3w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:32+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" .
}