@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA
> .
@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:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_head
{
this:
np:hasAssertion
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_assertion
;
np:hasProvenance
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_provenance
;
np:hasPublicationInfo
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_assertion
a
np:Assertion
.
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_provenance
a
np:Provenance
.
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_assertion
{
miriam-gene:5339
a
ncit:C16612
.
lld:C0266159
a
ncit:C7057
.
dgn-gda:DGN8dd30ee02ecfcb7606d683122a4c40c9
sio:SIO_000628
miriam-gene:5339
,
lld:C0266159
;
a
sio:SIO_001121
.
}
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_provenance
{
dgn-np:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_assertion
dcterms:description
"[Autosomal recessive forms of EBS associated with extracutaneous manifestations, such as muscular dystrophy (MIM 226670) or pyloric atresia (MIM 612138), have been linked to genetic mutations in the gene for plectin (PLEC).]. 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:20447487
;
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:NP506047.RA356h-ii7HyYWh7W3YsEioDTI_owCcDx9KYaakd-M5IA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:02+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" .
}