@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ
> .
@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 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:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_head
{
this:
np:hasAssertion
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_assertion
;
np:hasProvenance
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_assertion
a
np:Assertion
.
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_provenance
a
np:Provenance
.
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_assertion
{
miriam-gene:268
a
ncit:C16612
.
lld:C1849930
a
ncit:C7057
.
dgn-gda:DGNbebc787530705480b2c138fbc88644fd
sio:SIO_000628
miriam-gene:268
,
lld:C1849930
;
a
sio:SIO_001122
.
}
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_provenance
{
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_assertion
dc:description
"[Biologically, PMDS is heterogeneous: in some cases, bioactive AMH is normally expressed by testicular tissue while, in others, no AMH is produced, suggesting the possibility of an AMH gene mutation, several of which have already been described.]. 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:8162013
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
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-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP374.RAHlgaxLApnITglMIiSiaBCMl0qwQukJV6dFKOr3nqSnQ130_publicationInfo
{
this:
dc:created
"2014-10-02T12:31:58+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}