@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU
> .
@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:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_head
{
this:
np:hasAssertion
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion
;
np:hasProvenance
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance
;
np:hasPublicationInfo
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion
a
np:Assertion
.
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance
a
np:Provenance
.
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_assertion
{
miriam-gene:6768
a
ncit:C16612
.
lld:C1835851
a
ncit:C7057
.
dgn-gda:DGN374835dae47b710ee65615e59be63a1d
sio:SIO_000628
miriam-gene:6768
,
lld:C1835851
;
a
sio:SIO_001121
.
}
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_provenance
{
dgn-np:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_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-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:NP715266.RAuKcSj6D57QPKNAoF_4EtKzW1PaoMU8Yi3N0xQGQsUEU130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:44:51+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" .
}