@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI
> .
@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:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_head
{
this:
np:hasAssertion
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_assertion
;
np:hasProvenance
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_provenance
;
np:hasPublicationInfo
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_assertion
a
np:Assertion
.
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_provenance
a
np:Provenance
.
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_assertion
{
miriam-gene:6520
a
ncit:C16612
.
lld:C0745103
a
ncit:C7057
.
dgn-gda:DGNc4c3a4dfb1b518dc189e95e6f2a3f59b
sio:SIO_000628
miriam-gene:6520
,
lld:C0745103
;
a
sio:SIO_001121
.
}
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_provenance
{
dgn-np:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_assertion
dcterms:description
"[Over 40 different mutations in the cardiac myosin heavy chain gene (MYH7) have been associated with familial hypertrophic cardiomyopathy (FHC), but no study has analyzed variation at this locus within the normal human population.]. 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:11549319
;
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:NP329546.RAsIe8DmHsFfFCdcjOstJm6zBXAuDFCorN7jv433Y19CI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:15+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" .
}