@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ
> .
@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:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_head
{
this:
np:hasAssertion
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_assertion
;
np:hasProvenance
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_assertion
a
np:Assertion
.
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_provenance
a
np:Provenance
.
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_assertion
{
miriam-gene:355
a
ncit:C16612
.
lld:C1328840
a
ncit:C7057
.
dgn-gda:DGN393982265e7fb8a688fd7d293233ea53
sio:SIO_000628
miriam-gene:355
,
lld:C1328840
;
a
sio:SIO_001121
.
}
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_provenance
{
dgn-np:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_assertion
dcterms:description
"[A role for other modifying genes was suggested by the finding that the healthy father exhibited defective Fas function, without mutation of the FAS gene, and had transmitted to the patient an osteopontin (OPN) gene variant previously associated with ALPS.]. 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:24043286
;
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:NP248803.RA-SzkgKnAhOEl6MwFAQVZyZZPFZdsvt3T1MFXfC-xOfQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:01+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" .
}