@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 dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_head { this: np:hasAssertion dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_assertion; np:hasProvenance dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_provenance; np:hasPublicationInfo dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_publicationInfo; a np:Nanopublication . dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_assertion a np:Assertion . dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_provenance a np:Provenance . dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_publicationInfo a np:PublicationInfo . } dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_assertion { miriam-gene:146 a ncit:C16612 . lld:C0265216 a ncit:C7057 . dgn-gda:DGNf0045ec880bc312a9564dd21410b8ad3 sio:SIO_000628 miriam-gene:146, lld:C0265216; a sio:SIO_001121 . } dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_provenance { dgn-np:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_assertion dcterms:description "[COL4A5 mutations causing X-linked Alport syndrome (XLAS) are frequently associated with absence of the alpha3, alpha4,alpha5 and alpha6 chains of type IV collagen from basement membranes and increased amounts of the alpha1(IV) and alpha2(IV) chains in glomerular basement membrane.]. 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:9749944; 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:NP590276.RAcfSJ2AQ3d2J8lYbAi80I05PWpbIFefd6dM4h924zBl8130_publicationInfo { this: dcterms:created "2014-10-02T12:37:55+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }