@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM
> .
@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:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_head
{
this:
np:hasAssertion
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_assertion
;
np:hasProvenance
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_provenance
;
np:hasPublicationInfo
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_assertion
a
np:Assertion
.
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_provenance
a
np:Provenance
.
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_assertion
{
miriam-gene:6736
a
ncit:C16612
.
lld:C0266362
a
ncit:C7057
.
dgn-gda:DGNfc32f4afb1d71dcb9d1a34f6616553b2
sio:SIO_000628
miriam-gene:6736
,
lld:C0266362
;
a
sio:SIO_001121
.
}
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_provenance
{
dgn-np:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_assertion
dct:description
"[On the assumption that the function of the testis is to produce hormones and spermatozoa, the hypothesis of a single Y-chromosomal testis-determining gene with a dominant effect is shown to run counter to the following observed facts: a lowering in testosterone levels and an increase in the incidence of undescended testes, in addition to sterility, in males with multiple X chromosomes; abnormalities of the testes in autosomal trisomies; phenotypic abnormalities of XX males apparently increasing with decreasing amounts of Y-chromosomal material; the occurrence of patients with gonadal dysgenesis and XY males with ambiguous genitalia in the same sibship; the occurrence of identical SRY mutations in patients with gonadal dysgenesis and fertile males in the same pedigree; and the development of XY female and hermaphrodite mice having the same genetic constitution.]. 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:1634224
;
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:NP358738.RAC559rFa4hckkd257v8u-MiPRHOK337jGgsPvoRi0ePM130_publicationInfo
{
this:
dct:created
"2014-10-02T12:35:30+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:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}