@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k
> .
@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:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_head
{
this:
np:hasAssertion
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion
;
np:hasProvenance
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance
;
np:hasPublicationInfo
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion
a
np:Assertion
.
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance
a
np:Provenance
.
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion
{
miriam-gene:2132
a
ncit:C16612
.
lld:C0263661
a
ncit:C7057
.
dgn-gda:DGN0c8e28c434bb9ac130f8ea0ceded0b7a
sio:SIO_000628
miriam-gene:2132
,
lld:C0263661
;
a
sio:SIO_001121
.
}
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_provenance
{
dgn-np:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_assertion
dcterms:description
"[Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder most frequently caused by the EXT1 and EXT2 gene mutations resulting in reduction or absence of heparan sulfate (HS) in the exostotic cartilage cap.]. 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:19839753
;
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:NP374759.RAiIzPQuZP64_bXBUSRjNKm0K0arDoJc8XGmt__5eG_5k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:39+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" .
}