http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#head http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#assertion http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#provenance http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#assertion http://rdf.disgenet.org/resource/gda/DGN115382d1e9d2c847b1575f42058fc9bc http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10913 http://rdf.disgenet.org/resource/gda/DGN115382d1e9d2c847b1575f42058fc9bc http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3888065 http://rdf.disgenet.org/resource/gda/DGN115382d1e9d2c847b1575f42058fc9bc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#provenance http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#assertion http://purl.org/dc/terms/description [Mutations in three functionally related genes EDA, EDAR and EDARDD have been reported to cause hypohidrotic ectodermal dysplasia (HED), which is characterized by sparse hair, reduced ability to sweat, and hypodontia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#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/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19551394 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#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/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/dc/terms/created 2017-10-17T13:18:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1234454.RAs3E0lbzTSlGUHtnd--HeTzd2lDSiZqc3_Ee8wzJaMRY 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