@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU
> .
@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/v3.0.0/void/
> .
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_head
{
this:
np:hasAssertion
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_assertion
;
np:hasProvenance
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_provenance
;
np:hasPublicationInfo
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_assertion
a
np:Assertion
.
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_provenance
a
np:Provenance
.
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_assertion
{
miriam-gene:4487
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN71424711e423fb6da98a7acaf7a2fa41
sio:SIO_000628
miriam-gene:4487
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_provenance
{
dgn-np:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_assertion
dcterms:description
"[Frequencies of rare alleles at the MSX1 locus are significantly higher among 34 infants with limb deficiency compared to 482 infants with other isolated birth defects (oral clefts, dislocation of hip, clubfoot, hypospadias, polydactyly, or syndactyly) (chi2 = 11.0, df = 3, P = 0.012).]. 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:9482651
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP571670.RAUaaFc1Mp_ZgXkSggu0SUVQ2EeDbcso4QbGjanrJneLU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:20+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}