@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ
> .
@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:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_head
{
this:
np:hasAssertion
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_assertion
;
np:hasProvenance
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_assertion
a
np:Assertion
.
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_provenance
a
np:Provenance
.
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_assertion
{
miriam-gene:2778
a
ncit:C16612
.
lld:C0033806
a
ncit:C7057
.
dgn-gda:DGNc8cd39e12cde6b764726583adb866e38
sio:SIO_000628
miriam-gene:2778
,
lld:C0033806
;
a
sio:SIO_001121
.
}
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_provenance
{
dgn-np:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_assertion
dcterms:description
"[Interestingly, paternal transmission of GNAS1 mutations leads to the AHO phenotype alone (pseudopseudohypoparathyroidism), while maternal transmission leads to AHO plus resistance to several hormones (e.g., PTH, TSH) that activate G(s) in their target tissues (pseudohypoparathyroidism type IA).]. 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:11588148
;
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:NP274001.RAhetKOyMzsNyYdFhuce5AmLz0HbbK8jZOvx8YCAqggaQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:34+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" .
}