@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro
> .
@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:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_head
{
this:
np:hasAssertion
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_assertion
;
np:hasProvenance
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_provenance
;
np:hasPublicationInfo
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_assertion
a
np:Assertion
.
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_provenance
a
np:Provenance
.
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_assertion
{
miriam-gene:10117
a
ncit:C16612
.
lld:C0399368
a
ncit:C7057
.
dgn-gda:DGNb21f1973a35f94986abd7f2589b86039
sio:SIO_000628
miriam-gene:10117
,
lld:C0399368
;
a
sio:SIO_001121
.
}
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_provenance
{
dgn-np:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_assertion
dcterms:description
"[The enamelin gene (ENAM ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI).]. 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:11978766
;
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:NP678018.RAbyL1VTJoa_-gMg_gWDsuFMYlbLl3-9Foht66-YJwKro130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:49+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" .
}