@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:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_head { this: np:hasAssertion dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_assertion; np:hasProvenance dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_provenance; np:hasPublicationInfo dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_publicationInfo; a np:Nanopublication . dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_assertion a np:Assertion . dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_provenance a np:Provenance . dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_publicationInfo a np:PublicationInfo . } dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_assertion { miriam-gene:7299 a ncit:C16612 . lld:C0007965 a ncit:C7057 . dgn-gda:DGN04f6d417945f7060d19caf2e3db43800 sio:SIO_000628 miriam-gene:7299, lld:C0007965; a sio:SIO_001121 . } dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_provenance { dgn-np:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_assertion dcterms:description "[Mutations in six genes have been reported to be responsible for different types of oculocutaneous and ocular albinism, including the tyrosinase gene (TYR) and OCA1 (MIM# 203100), the OCA2 gene and OCA2 (MIM# 203200), the tyrosinase-related protein-1 gene (TYRP1) and OCA3 (MIM# 203290), the HPS gene and Hermansky-Pudlak syndrome (MIM# 203300), the CHS gene (CHS1), and Chediak-Higashi syndrome (MIM# 214500), and the X-linked ocular albinism gene and OA1 (MIM#300500).]. 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:10094567; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP763889.RAlP3WfrDKKPVAw08aOXnLFAQgnDX3KJI8k39wTP4__QY130_publicationInfo { this: dcterms:created "2015-08-25T14:45:21+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 "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }