@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM
> .
@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:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_head
{
this:
np:hasAssertion
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_assertion
;
np:hasProvenance
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_provenance
;
np:hasPublicationInfo
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_assertion
a
np:Assertion
.
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_provenance
a
np:Provenance
.
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_assertion
{
miriam-gene:2245
a
ncit:C16612
.
lld:C0175701
a
ncit:C7057
.
dgn-gda:DGN0f326edec02f8a8f512a3aeec2029a84
sio:SIO_000628
miriam-gene:2245
,
lld:C0175701
;
a
sio:SIO_001121
.
}
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_provenance
{
dgn-np:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_assertion
dcterms:description
"[DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 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:11241498
;
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:NP310443.RANpjMbuv960aQH92dc5zjIkQCYFMS0rislrZFpShpFzM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:06+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" .
}