@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU
> .
@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:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_head
{
this:
np:hasAssertion
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_assertion
;
np:hasProvenance
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_provenance
;
np:hasPublicationInfo
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_assertion
a
np:Assertion
.
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_provenance
a
np:Provenance
.
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_assertion
{
miriam-gene:8195
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGNf36b1364ba63d7dabefc9c710cb74be5
sio:SIO_000628
miriam-gene:8195
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_provenance
{
dgn-np:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_assertion
dcterms:description
"[The phenotypes observed were beyond the classic BBS phenotype as they overlapped with characteristics of MKKS (congenital heart defect, vaginal atresia, hydrometrocolpos, cryptorchidism), as well as Alström syndrome (diabetes, hearing loss, liver abnormalities, endocrine anomalies, cardiomyopathy).]. 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:20472660
;
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:NP812369.RAeWFioylC4d8x7KPj1v1p-5dT59lH4EBvt-SGSMjG1MU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:53+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" .
}