@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc
> .
@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:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_head
{
this:
np:hasAssertion
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_assertion
;
np:hasProvenance
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_provenance
;
np:hasPublicationInfo
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_assertion
a
np:Assertion
.
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_provenance
a
np:Provenance
.
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_assertion
{
miriam-gene:1293
a
ncit:C16612
.
lld:C0011615
a
ncit:C7057
.
dgn-gda:DGN47d84677f8c6463b3cbdcfd5ffb7cd7f
sio:SIO_000628
miriam-gene:1293
,
lld:C0011615
;
a
sio:SIO_001121
.
}
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_provenance
{
dgn-np:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_assertion
dcterms:description
"[Skin abnormalities, including predisposition to keratosis pilaris and abnormal scarring, were described in Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) patients carrying mutations in COL6A1, COL6A2, and COL6A3 genes, whereas COL6A5, previously designated as COL29A1, was linked to atopic dermatitis.]. 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:20882040
;
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:NP416337.RAv8a1ZPZpOxwR-F5ETfi4bpJdAefK2mZWU5h1udm_suc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:07+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" .
}