http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_head http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_provenance http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://identifiers.org/ncbigene/1913 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/C0406704 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/DGN288a4879ec337e06e29c4a0fb2ac6c08 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1913 http://rdf.disgenet.org/resource/gda/DGN288a4879ec337e06e29c4a0fb2ac6c08 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0406704 http://rdf.disgenet.org/resource/gda/DGN288a4879ec337e06e29c4a0fb2ac6c08 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_provenance http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://purl.org/dc/terms/description [p63 mutations have been associated with several human hereditary disorders characterized by ectodermal dysplasia such as EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome, ADULT (acro, dermato, ungual, lacrimal, tooth) syndrome and AEC (ankyloblepharon, ectodermal dysplasia, clefting) syndrome (also called Hay-Wells syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_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/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16319531 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_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/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/dc/terms/created 2016-05-13T12:45:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP524618.RAuxFHpD7PULWw8AgCcZPpTchFSKRYLf2wu2mPzlZdF1I 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