@prefix dcterms: .
@prefix dgn-np: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-gda: .
@prefix dgn-void: .
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_head {
this: np:hasAssertion dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_assertion;
np:hasProvenance dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_provenance;
np:hasPublicationInfo dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_publicationInfo;
a np:Nanopublication .
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_assertion a np:Assertion .
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_provenance a np:Provenance .
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_publicationInfo a
np:PublicationInfo .
}
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_assertion {
miriam-gene:4867 a ncit:C16612 .
lld:C1855681 a ncit:C7057 .
dgn-gda:DGNd1314f3bab49f3401df64be19082eb48 sio:SIO_000628 miriam-gene:4867, lld:C1855681;
a sio:SIO_001121 .
}
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_provenance {
dgn-np:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_assertion dcterms:description
"[Type 1 nephronophthisis (NPHP) with homozygous deletions of nephrocystin [NPHP1, DEL] has been considered a pure renal disorder, but co-occurrence of extrarenal symptoms, mainly retinitis pigmentosa, is observed in a subset of patients.]. 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:16900087;
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:NP563635.RA96-R3AZCFG38hjfPxMPDeap7br0sm-mja2t6owSfcZ8130_publicationInfo {
this: dcterms:created "2016-05-13T12:46:00+02:00"^^xsd:dateTime;
dcterms:rights ;
dcterms:rightsHolder dgn-void:IBIGroup;
dcterms:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}