@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU
> .
@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/v3.0.0/void/
> .
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_head
{
this:
np:hasAssertion
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_assertion
;
np:hasProvenance
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_provenance
;
np:hasPublicationInfo
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_assertion
a
np:Assertion
.
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_provenance
a
np:Provenance
.
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_assertion
{
miriam-gene:338442
a
ncit:C16612
.
lld:C0345407
a
ncit:C7057
.
dgn-gda:DGN6a260e4edc0c9019d123f5786be92c3e
sio:SIO_000628
miriam-gene:338442
,
lld:C0345407
;
a
sio:SIO_001121
.
}
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_provenance
{
dgn-np:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_assertion
dcterms:description
"[The disease marble brain syndrome (MBS), known also as carbonic anhydrase II deficiency syndrome (CADS), can manifest in carriers of point mutations in the human carbonic anhydrase II (HCA II) gene.]. 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:15327960
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP985332.RAwexWgxh9N477czj3Fb2pXdttDfIr_Z1FxJx5JbT9vYU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:43+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}