@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14
> .
@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:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_head
{
this:
np:hasAssertion
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_assertion
;
np:hasProvenance
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_provenance
;
np:hasPublicationInfo
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_assertion
a
np:Assertion
.
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_provenance
a
np:Provenance
.
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_assertion
{
miriam-gene:1605
a
ncit:C16612
.
lld:C0699743
a
ncit:C7057
.
dgn-gda:DGN4330296289335c523e09e4fb80b669a6
sio:SIO_000628
miriam-gene:1605
,
lld:C0699743
;
a
sio:SIO_001121
.
}
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_provenance
{
dgn-np:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_assertion
dcterms:description
"[Defects in dystroglycan post-translational modification result in congenital muscular dystrophy with or without additional eye and brain involvement, are referred to as secondary dystroglycanopathies and have been associated with mutations in 11 different genes encoding glycosyltransferases or associated proteins.]. 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:24052401
;
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:NP1112216.RAAMzH_GNGhPgnsq__G7CeTjl3rPwqrawmEraCWNBHv14130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:10+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" .
}