http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#head
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#assertion
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#provenance
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#assertion
http://rdf.disgenet.org/resource/gda/DGN0a87eda5b837554e92e8bafe3942a4dd
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3077
http://rdf.disgenet.org/resource/gda/DGN0a87eda5b837554e92e8bafe3942a4dd
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0018995
http://rdf.disgenet.org/resource/gda/DGN0a87eda5b837554e92e8bafe3942a4dd
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#provenance
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#assertion
http://purl.org/dc/terms/description
[The term hemochromatosis should refer to a unique clinicopathologic subset of iron-overload syndromes that currently includes the disorder related to the C282Y homozygote mutation of the hemochromatosis protein HFE (by far the most common form of hemochromatosis) and the rare disorders more recently attributed to the loss of transferrin receptor 2, HAMP (hepcidin antimicrobial peptide), or hemojuvelin or to certain ferroportin mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#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/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17886335
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#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/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/dc/terms/created
2017-10-17T13:13:15+02:00
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP483786.RAco9hHCGk8npOf2PmQYLVKdvri2YFN9PKfDdLndbA54E
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