@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw
> .
@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-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:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_head
{
this:
np:hasAssertion
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_assertion
;
np:hasProvenance
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_assertion
a
np:Assertion
.
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_provenance
a
np:Provenance
.
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_assertion
{
miriam-gene:1311
a
ncit:C16612
.
lld:C0410538
a
ncit:C7057
.
dgn-gda:DGN79d94e50fc64274a81a6dc3226f59f35
sio:SIO_000628
miriam-gene:1311
,
lld:C0410538
;
a
sio:SIO_001122
.
}
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_provenance
{
dgn-np:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_assertion
dcterms:description
"[The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is somewhat atypical, as it predicts an amino acid change within the carboxyl-terminal region of the protein.]. 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:11746045
;
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:NP1760.RA-iorrJdN9l9sknuXik4yNzv1SqP8DKgCjZ6kaxPjhhw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}