@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10
> .
@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:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_head
{
this:
np:hasAssertion
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_assertion
;
np:hasProvenance
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_provenance
;
np:hasPublicationInfo
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_assertion
a
np:Assertion
.
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_provenance
a
np:Provenance
.
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0266667
a
ncit:C7057
.
dgn-gda:DGN4055caf18b167b538291492df2e0f0fe
sio:SIO_000628
miriam-gene:6469
,
lld:C0266667
;
a
sio:SIO_001121
.
}
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_provenance
{
dgn-np:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_assertion
dcterms:description
"[Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development.]. 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:16282375
;
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:NP448094.RAqnqCW1UQ3DA1ScKiyqJQl3rNr0KBl6dEr6T2QR_yM10130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:27+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" .
}