@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU
> .
@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:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_head
{
this:
np:hasAssertion
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_assertion
;
np:hasProvenance
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_assertion
a
np:Assertion
.
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_provenance
a
np:Provenance
.
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_assertion
{
miriam-gene:56623
a
ncit:C16612
.
lld:C0152427
a
ncit:C7057
.
dgn-gda:DGN6cee49fe35fa9e67499fa452feb5435c
sio:SIO_000628
miriam-gene:56623
,
lld:C0152427
;
a
sio:SIO_001121
.
}
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_provenance
{
dgn-np:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_assertion
dcterms:description
"[Consistent with a role in transition zone function, mutation of mouse Tmem231 disrupts the localization of proteins including Arl13b and Inpp5e to cilia, resulting in phenotypes characteristic of MKS such as polydactyly and kidney cysts.]. 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:25869670
;
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:NP1277636.RAJy2lJwwLdnOh4sD5lFpWkzXx00UeSbQEMgT9tMnuVWU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:25+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" .
}