http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#head
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://rdf.disgenet.org/resource/gda/DGN256a5d0cad1dea07e01eb4e9037ad6bd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/7299
http://rdf.disgenet.org/resource/gda/DGN256a5d0cad1dea07e01eb4e9037ad6bd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0078917
http://rdf.disgenet.org/resource/gda/DGN256a5d0cad1dea07e01eb4e9037ad6bd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#provenance
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10094567
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000212
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations inferred from text-mining the literature.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/dc/terms/created
2017-10-17T13:17:08+02:00
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP1088303.RA0Hpf51hWPPs9fln0At5fprKqf-wJ2epwi2wVdoL049Y
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0