@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM
> .
@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:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_head
{
this:
np:hasAssertion
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_assertion
;
np:hasProvenance
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_provenance
;
np:hasPublicationInfo
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_assertion
a
np:Assertion
.
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_provenance
a
np:Provenance
.
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_assertion
{
miriam-gene:5351
a
ncit:C16612
.
lld:C0013720
a
ncit:C7057
.
dgn-gda:DGNb30a5b91b25af428bda3f71047777493
sio:SIO_000628
miriam-gene:5351
,
lld:C0013720
;
a
sio:SIO_001121
.
}
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_provenance
{
dgn-np:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_assertion
dcterms:description
"[Recent advances in the molecular analysis of EDS have identified defects responsible for EDS IV (mutations in the type III collagen gene), EDS VI (homozygous and compound heterozygous mutations in the lysyl hydroxylase gene), EDS VIIA and VIIB (mutations in the type I collagen genes), EDS VIIC (deficiency of procollagen N-proteinase), and EDS IX (decreased lysyl oxidase activity).]. 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:8217561
;
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:NP819943.RAcX-yTgVdSFSxvw2ivIpZfDdb4ab2ih2Kkhzu6lufrGM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:22+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" .
}