http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_head http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://identifiers.org/ncbigene/7051 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/C0037277 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/DGN7d2593ce511a0b9c2f3aca82475a59bf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7051 http://rdf.disgenet.org/resource/gda/DGN7d2593ce511a0b9c2f3aca82475a59bf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0037277 http://rdf.disgenet.org/resource/gda/DGN7d2593ce511a0b9c2f3aca82475a59bf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://purl.org/dc/terms/description [The recent identification of genetic skin diseases with mutations in the genes encoding some of these proteins, including transglutaminase 1 and loricrin, has disclosed that abnormal cornified cell envelope synthesis is significantly involved in the pathophysiology of certain inherited keratodermas and reflects perturbations in the complex, yet highly orderly process of cornified cell envelope formation in normal skin biology.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_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/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9517915 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_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/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/dc/terms/created 2016-05-13T12:52:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1391546.RAIaqn4lB5ejyAbfkW8HCkvfRLmiZBZRAYXom3hK7c8CQ 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