@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds
> .
@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:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_head
{
this:
np:hasAssertion
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_assertion
;
np:hasProvenance
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_provenance
;
np:hasPublicationInfo
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_assertion
a
np:Assertion
.
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_provenance
a
np:Provenance
.
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_assertion
{
miriam-gene:1896
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGN0aa8cf2e3f4682f6d8c1b1761e3c0a20
sio:SIO_000628
miriam-gene:1896
,
lld:C0266617
;
a
sio:SIO_001121
.
}
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_provenance
{
dgn-np:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_assertion
dcterms:description
"[Although no clinical differences between patients carrying EDA1, EDAR, or EDARADD mutations could be identified, patients harboring WNT10A mutations displayed distinctive clinical features (marked dental phenotype, no facial dysmorphism), helping to decide which gene should be first investigated in HED/EDA.]. 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:20979233
;
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:NP848476.RAvJyIg3uXf9fBDgT8_cgJ1A9VL4eJ78GpIrwJln2IFds130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:09+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" .
}