@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:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_head { this: np:hasAssertion dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_assertion; np:hasProvenance dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_provenance; np:hasPublicationInfo dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_publicationInfo; a np:Nanopublication . dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_assertion a np:Assertion . dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_provenance a np:Provenance . dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_publicationInfo a np:PublicationInfo . } dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_assertion { miriam-gene:27032 a ncit:C16612 . lld:C0085106 a ncit:C7057 . dgn-gda:DGN478f968f17d88762d09bb8e9dcfca4a6 sio:SIO_000628 miriam-gene:27032, lld:C0085106; a sio:SIO_001121 . } dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_provenance { dgn-np:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_assertion dcterms:description "[ATP2C1, encoding the human secretory pathway Ca2+/Mn2+ ATPase (hSPCA1), was recently identified as the defective gene in Hailey-Hailey Disease (HHD), an autosomal dominant skin disorder characterized by persistent blisters and erosions.]. 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:12707275; 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:NP391776.RAj7XYlJ5RVeoZHX2Pbvg8BI2qAx_UIyCqTke2EE1IFt4130_publicationInfo { this: dcterms:created "2016-05-13T12:44:42+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" . }