@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0
> .
@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:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_head
{
this:
np:hasAssertion
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_assertion
;
np:hasProvenance
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_provenance
;
np:hasPublicationInfo
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_assertion
a
np:Assertion
.
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_provenance
a
np:Provenance
.
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_assertion
{
miriam-gene:8074
a
ncit:C16612
.
lld:C1876187
a
ncit:C7057
.
dgn-gda:DGN599b64732254f47e49ad5f5456d7b455
sio:SIO_000628
miriam-gene:8074
,
lld:C1876187
;
a
sio:SIO_001121
.
}
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_provenance
{
dgn-np:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_assertion
dcterms:description
"[Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis Syndrome (HHS) are associated with autosomal recessive mutations in three different genes, FGF23, GALNT3 and KL, leading to reduced levels of fibroblast growth factor 23 (FGF23) and subsequent clinical effects.]. 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:25249269
;
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:NP1222956.RAK7vCaZvl4P9U9qUKIF0cDN5E1WtG9ynl0LVQd7y3cu0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:00+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" .
}