@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg
> .
@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:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_head
{
this:
np:hasAssertion
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion
;
np:hasProvenance
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance
;
np:hasPublicationInfo
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion
a
np:Assertion
.
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance
a
np:Provenance
.
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion
{
miriam-gene:2688
a
ncit:C16612
.
lld:C0948740
a
ncit:C7057
.
dgn-gda:DGNc996160cf363a7a1498ecdc9d694a5dd
sio:SIO_000628
miriam-gene:2688
,
lld:C0948740
;
a
sio:SIO_001121
.
}
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_provenance
{
dgn-np:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_assertion
dcterms:description
"[Dominant-negative growth hormone gene (GH1) mutations cause familial isolated growth hormone deficiency type II (IGHD II), which is characterized by GH deficiency, occasional multiple anterior pituitary hormone deficiencies, and anterior pituitary hypoplasia.]. 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:21707947
;
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:NP847002.RAoSqBpFoENTuyN5h2pTcAH3Fa-kWSqV_HmC7D1zManNg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:38+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" .
}