@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:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_head { this: np:hasAssertion dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_assertion; np:hasProvenance dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_provenance; np:hasPublicationInfo dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_publicationInfo; a np:Nanopublication . dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_assertion a np:Assertion . dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_provenance a np:Provenance . dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_publicationInfo a np:PublicationInfo . } dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_assertion { miriam-gene:717 a ncit:C16612 . lld:C3150275 a ncit:C7057 . dgn-gda:DGNc4431faa6d7c7b134c04f0dd6a6711a4 sio:SIO_000628 miriam-gene:717, lld:C3150275; a sio:SIO_001122 . } dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_provenance { dgn-np:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_assertion dct:description "[Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.]. 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:8621452; 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:NP836.RAxCq-wYRNz1Lf60EVO3h2hqKBSFbA4K034a51EtvYD1Q130_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" . }