@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488
> .
@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:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_head
{
this:
np:hasAssertion
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_assertion
;
np:hasProvenance
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_provenance
;
np:hasPublicationInfo
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_assertion
a
np:Assertion
.
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_provenance
a
np:Provenance
.
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_assertion
{
miriam-gene:6469
a
ncit:C16612
.
lld:C0079541
a
ncit:C7057
.
dgn-gda:DGN7b605e2e36a02bb10efad8f7ee7105b7
sio:SIO_000628
miriam-gene:6469
,
lld:C0079541
;
a
sio:SIO_001122
.
}
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_provenance
{
dgn-np:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_assertion
dcterms:description
"[Results show that SHH holoprosencephaly missense mutations affect SHH biogenesis and signaling at multiple steps, which results in low levels of protein expression, defective processing of SHH into its active form and protein with reduced activity.]. 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:19057928
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP107231.RATR5WMDvQp-Rn2RDzI6Fa8bHJtL4wgj5ckejqUl8u488130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:54+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" .
}