http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#head
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#assertion
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#provenance
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#assertion
http://rdf.disgenet.org/resource/gda/DGNe555d960c447725781e8883662457b86
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1285
http://rdf.disgenet.org/resource/gda/DGNe555d960c447725781e8883662457b86
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0241908
http://rdf.disgenet.org/resource/gda/DGNe555d960c447725781e8883662457b86
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#provenance
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#assertion
http://purl.org/dc/terms/description
[It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#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/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/12768082
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#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/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/dc/terms/created
2017-10-17T13:11:39+02:00
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP227990.RAM03JazoEOA0XScLRLGNUHufbhf6Fge5HMFj2t7kPW54
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