@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY
> .
@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:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_head
{
this:
np:hasAssertion
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_assertion
;
np:hasProvenance
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_provenance
;
np:hasPublicationInfo
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_assertion
a
np:Assertion
.
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_provenance
a
np:Provenance
.
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0206641
a
ncit:C7057
.
dgn-gda:DGN0b21d361528ae6af4bca9c550834de63
sio:SIO_000628
miriam-gene:2131
,
lld:C0206641
;
a
sio:SIO_001121
.
}
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_provenance
{
dgn-np:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_assertion
dcterms:description
"[Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones.]. 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:16476576
;
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:NP535771.RAOBpFOcnGARgdVbeEcb4FEU92BFWIA6rImPxdhNf12LY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:47+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" .
}