@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk
> .
@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:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_head
{
this:
np:hasAssertion
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_assertion
;
np:hasProvenance
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_assertion
a
np:Assertion
.
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_provenance
a
np:Provenance
.
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_assertion
{
miriam-gene:2006
a
ncit:C16612
.
lld:C0175702
a
ncit:C7057
.
dgn-gda:DGN93e6d4f1273d7d0f6202c8006956ce6b
sio:SIO_000628
miriam-gene:2006
,
lld:C0175702
;
a
sio:SIO_001121
.
}
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_provenance
{
dgn-np:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_assertion
dcterms:description
"[Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemia, dysmorphic facies, and mental retardation remain to be identified.]. 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:8812460
;
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:NP1357620.RATwZEEcTW4lBUO5YiT1IWWU77MP1jLLEGXZOY_H68OSk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:01+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" .
}