@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_head
{
this:
np:hasAssertion
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_assertion
;
np:hasProvenance
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_assertion
a
np:Assertion
.
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_provenance
a
np:Provenance
.
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_assertion
{
miriam-gene:2658
a
ncit:C16612
.
lld:C0039445
a
ncit:C7057
.
dgn-gda:DGNfc808c549b4552da39641f59df4bd902
sio:SIO_000628
miriam-gene:2658
,
lld:C0039445
;
a
sio:SIO_001121
.
}
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_provenance
{
dgn-np:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_assertion
dcterms:description
"[Major structural changes and loss of stability of the protein were predicted for several mutations, while others were found to interfere mainly with binding to BMP9 or other interactors, like Endoglin (CD105), whose encoding ENG gene (9q34) mutations are known to cause type 1 HHT.]. 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:22028876
;
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:NP211541.RAEjjVa5G8v-axvPrUyuWiuF3ANNR3XVpcOMFU7zsWbYQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:56+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: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" .
}