http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_head http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://identifiers.org/ncbigene/55315 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C1864445 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGNcbe2897863dda00e5c3e4a4d1452ab2c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55315 http://rdf.disgenet.org/resource/gda/DGNcbe2897863dda00e5c3e4a4d1452ab2c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1864445 http://rdf.disgenet.org/resource/gda/DGNcbe2897863dda00e5c3e4a4d1452ab2c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://purl.org/dc/terms/description [H syndrome and pigmented hypertrichosis with insulin dependent diabetes (PHID) are allelic autosomal recessive syndromes reported in the last year to be caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20619369 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/dc/terms/created 2015-08-25T14:47:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0