@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8
> .
@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:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_head
{
this:
np:hasAssertion
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_assertion
;
np:hasProvenance
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_provenance
;
np:hasPublicationInfo
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_assertion
a
np:Assertion
.
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_provenance
a
np:Provenance
.
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_assertion
{
miriam-gene:4626
a
ncit:C16612
.
lld:C0332878
a
ncit:C7057
.
dgn-gda:DGNaa2d7960fb469915856c35dd2416a196
sio:SIO_000628
miriam-gene:4626
,
lld:C0332878
;
a
sio:SIO_001121
.
}
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_provenance
{
dgn-np:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_assertion
dcterms:description
"[Further genetic studies in human beings have highlighted novel variant phenotypes, such as congenital contractures, which are potentially associated with Carney complex, and have identified alternative genetic pathways to cardiac tumorigenesis, including mutation of the MYH8 gene that encodes perinatal myosin.]. 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:15992699
;
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:NP501911.RAoYxPB2jFHc4T5oGq7CAbTQw2TWHK9y9zlpDdvPK9fy8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:32+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: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" .
}