@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s
> .
@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:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_head
{
this:
np:hasAssertion
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_assertion
;
np:hasProvenance
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_provenance
;
np:hasPublicationInfo
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_assertion
a
np:Assertion
.
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_provenance
a
np:Provenance
.
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_assertion
{
miriam-gene:2778
a
ncit:C16612
.
lld:C3494506
a
ncit:C7057
.
dgn-gda:DGN36df567788546c12ee2995c5e05193e9
sio:SIO_000628
miriam-gene:2778
,
lld:C3494506
;
a
sio:SIO_001121
.
}
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_provenance
{
dgn-np:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_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-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:NP332130.RAnKxwxrNotTVqxG9fbTSt1bIjjVp-HZwXiih0VMygA5s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:16+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" .
}