http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_head http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://identifiers.org/ncbigene/4014 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/C0022579 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/gene-disease-association.ttl#DGN19e7bfe1d850b0c263b7d9e849d04832 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4014 http://rdf.disgenet.org/gene-disease-association.ttl#DGN19e7bfe1d850b0c263b7d9e849d04832 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022579 http://rdf.disgenet.org/gene-disease-association.ttl#DGN19e7bfe1d850b0c263b7d9e849d04832 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_provenance http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_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/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9517915 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/dc/terms/created 2014-10-02T12:34:08+02:00 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP228349.RAzdqZhIjx1tAfebFoRdPNH0B-WVDTYbUqoNCagLpLGAE http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0