@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54
> .
@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:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_head
{
this:
np:hasAssertion
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_assertion
;
np:hasProvenance
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_provenance
;
np:hasPublicationInfo
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_assertion
a
np:Assertion
.
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_provenance
a
np:Provenance
.
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_assertion
{
miriam-gene:4167
a
ncit:C16612
.
lld:C0339508
a
ncit:C7057
.
dgn-gda:DGNc20aaceeba674ecdf0c08acffbab920b
sio:SIO_000628
miriam-gene:4167
,
lld:C0339508
;
a
sio:SIO_001121
.
}
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_provenance
{
dgn-np:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_assertion
dcterms:description
"[To document the phenotype of an autosomal dominant macular dystrophy diagnosed as having North Carolina macular dystrophy (NCMD) in this British family, and to verify that the disease locus corresponds with that of MCDR1 on chromosome 6q.]. 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:9924305
;
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:NP1413712.RAKmBINxnse0348gR_QS0he8lYGek4geOVKC3_Cl-Gw54130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:27+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: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" .
}