@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y
> .
@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:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_head
{
this:
np:hasAssertion
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_assertion
;
np:hasProvenance
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_provenance
;
np:hasPublicationInfo
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_assertion
a
np:Assertion
.
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_provenance
a
np:Provenance
.
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_assertion
{
miriam-gene:7020
a
ncit:C16612
.
lld:C0344559
a
ncit:C7057
.
dgn-gda:DGN8598ab872306274a55aaaee40f5e3473
sio:SIO_000628
miriam-gene:7020
,
lld:C0344559
;
a
sio:SIO_001121
.
}
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_provenance
{
dgn-np:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_assertion
dcterms:description
"[We report five new genes associated with this condition and suggest screening of TFAP2A and FLNA in patients with Peters anomaly and relevant syndromic features and HCCS, NDP and SLC4A11 in patients with isolated Peters anomaly.]. 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:25182519
;
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:NP1216281.RAwXIlD-EVLoK3MKP8m-VtPg4JNSgaOfN7jEos692v_3Y130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:57+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" .
}