@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA
> .
@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:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_head
{
this:
np:hasAssertion
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_assertion
;
np:hasProvenance
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_provenance
;
np:hasPublicationInfo
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_assertion
a
np:Assertion
.
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_provenance
a
np:Provenance
.
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_assertion
{
miriam-gene:1286
a
ncit:C16612
.
lld:C1567741
a
ncit:C7057
.
dgn-gda:DGN86677c677de5673eed8917ca25d8505b
sio:SIO_000628
miriam-gene:1286
,
lld:C1567741
;
a
sio:SIO_001121
.
}
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_provenance
{
dgn-np:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_assertion
dcterms:description
"[It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.]. 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:12768082
;
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:NP395787.RA3pCDU8YGQimnOJscAfT_3-eW0Gh0FDvmok59I6qTLEA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:44+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" .
}