@prefix dct: . @prefix orcid: . @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-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_head { this: np:hasAssertion dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_assertion; np:hasProvenance dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_provenance; np:hasPublicationInfo dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_publicationInfo; a np:Nanopublication . dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_assertion a np:Assertion . dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_provenance a np:Provenance . dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_publicationInfo a np:PublicationInfo . } dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_assertion { miriam-gene:183 a ncit:C16612 . lld:C0266313 a ncit:C7057 . dgn-gda:DGN8f323adb8c96c6d6c828332a48c58f26 sio:SIO_000628 miriam-gene:183, lld:C0266313; a sio:SIO_001122 . } dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_provenance { dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_assertion dct:description "[We studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_curated; sio:SIO_000772 miriam-pubmed:16116425; prov:wasDerivedFrom dgn-void:uniprot-20130724; prov:wasGeneratedBy eco:ECO_0000218 . dgn-void:source_evidence_curated a eco:ECO_0000205; rdfs:comment "Gene-disease associations manually curated."@en; rdfs:label "DisGeNET evidence - CURATED"@en . dgn-void:uniprot-20130724 pav:importedOn "2013-07-24"^^xsd:date . } dgn-np:NP247.RAf_PRFiEa1vztq9rjEPRpfNuKNgTQVJIPOl2AyhNpZWo130_publicationInfo { this: dct:created "2014-10-02T12:31:58+02:00"^^xsd:dateTime; dct:rights ; dct:rightsHolder dgn-void:IBIGroup; dct:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }