@prefix dc: . @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:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_head { this: np:hasAssertion dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion; np:hasProvenance dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance; np:hasPublicationInfo dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_publicationInfo; a np:Nanopublication . dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion a np:Assertion . dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance a np:Provenance . dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_publicationInfo a np:PublicationInfo . } dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion { miriam-gene:9333 a ncit:C16612 . lld:C1853354 a ncit:C7057 . dgn-gda:DGNc9c610de44b9f6f540062d4d082756de sio:SIO_000628 miriam-gene:9333, lld:C1853354; a sio:SIO_001122 . } dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_provenance { dgn-np:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_assertion dc:description "[A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.]. 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:16380904; 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:NP6560.RAVgF_osD5AJ4Z4P_aNAJwkecynwXf8Q4VP8Pv_Z4hUks130_publicationInfo { this: dc:created "2014-10-02T12:32:01+02:00"^^xsd:dateTime; dc:rights ; dc:rightsHolder dgn-void:IBIGroup; dc: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" . }