@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I
> .
@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:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_head
{
this:
np:hasAssertion
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_assertion
;
np:hasProvenance
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_provenance
;
np:hasPublicationInfo
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_assertion
a
np:Assertion
.
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_provenance
a
np:Provenance
.
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_assertion
{
miriam-gene:5251
a
ncit:C16612
.
lld:C3536983
a
ncit:C7057
.
dgn-gda:DGN46403b4fc5232cb1dd90be48238ae7c7
sio:SIO_000628
miriam-gene:5251
,
lld:C3536983
;
a
sio:SIO_001121
.
}
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_provenance
{
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_assertion
dcterms:description
"[We describe a patient with XLH caused by a novel missense mutation in the PHEX gene, who on treatment with alfacalcidol and oral phosphate had normal growth and minimal bone deformities, but who subsequently developed moderate nephrocalcinosis, significant hyperparathyroidism, hypercalcemia, renal failure, and hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18775977
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP25714.RAlJrN-DCeeXhL1op0JPqREqDnfGuabOG18Y4ipqX_t7I130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:55+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" .
}