@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g
> .
@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:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_head
{
this:
np:hasAssertion
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion
;
np:hasProvenance
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance
;
np:hasPublicationInfo
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion
a
np:Assertion
.
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance
a
np:Provenance
.
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion
{
miriam-gene:6768
a
ncit:C16612
.
lld:C0079154
a
ncit:C7057
.
dgn-gda:DGN25754d9530c193a7ab93acf1aaf1839b
sio:SIO_000628
miriam-gene:6768
,
lld:C0079154
;
a
sio:SIO_001121
.
}
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_provenance
{
dgn-np:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_assertion
dcterms:description
"[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. 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:18445049
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP547998.RAL42lEiSXqB0d_kK7WWB00XIJWkl1HniACfe3qR6lg0g130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:30+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" .
}