http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#head http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#provenance http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://rdf.disgenet.org/resource/gda/DGN96b5613303a03fdf957da9d0382b95a0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/55315 http://rdf.disgenet.org/resource/gda/DGN96b5613303a03fdf957da9d0382b95a0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1864445 http://rdf.disgenet.org/resource/gda/DGN96b5613303a03fdf957da9d0382b95a0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#provenance http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#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/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20619369 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/dc/terms/created 2017-10-17T13:18:39+02:00 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1332815.RAzcjMOsmq7Qw0rUS3mHMkKd2bY2cSf7353V-fjFocOgg 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