http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_head http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://identifiers.org/ncbigene/1896 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/C0162359 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/DGNcc2630f14cbfa257ae3fa4fb6b7efe80 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1896 http://rdf.disgenet.org/resource/gda/DGNcc2630f14cbfa257ae3fa4fb6b7efe80 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0162359 http://rdf.disgenet.org/resource/gda/DGNcc2630f14cbfa257ae3fa4fb6b7efe80 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_provenance http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://purl.org/dc/terms/description [Mutations in the gene encoding the ligand ectodysplasin A (EDA) underlie classic, X-linked recessive HED, whereas mutations in the genes encoding the EDA receptor and (less frequently) the adaptor protein that associates with the EDA receptor's death domain result in autosomal dominant and autosomal recessive forms of HED.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19061621 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/dc/terms/created 2016-05-13T12:47:06+02:00 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP707704.RAdUa9NMyjr-flB4ZUYR5DWJ-_92-m5_UaPwWuBUGuRxU http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0