@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc
> .
@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 np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_head
{
this:
np:hasAssertion
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion
;
np:hasProvenance
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance
;
np:hasPublicationInfo
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion
a
np:Assertion
.
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance
a
np:Provenance
.
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion
{
miriam-gene:249
a
ncit:C16612
.
lld:C0268413
a
ncit:C7057
.
dgn-gda:DGN1a1c17a34989e7764178d08a882f6992
sio:SIO_000628
miriam-gene:249
,
lld:C0268413
;
a
sio:SIO_001122
.
}
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_provenance
{
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion
dct:description
"[They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. 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:10332035
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:50+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}