http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#head http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#assertion http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#provenance http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#assertion http://rdf.disgenet.org/resource/gda/DGN73fab5979351ec4154b4a1838feaffba http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4014 http://rdf.disgenet.org/resource/gda/DGN73fab5979351ec4154b4a1838feaffba http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022579 http://rdf.disgenet.org/resource/gda/DGN73fab5979351ec4154b4a1838feaffba http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#provenance http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#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/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#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/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9517915 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#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/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/dc/terms/created 2017-10-17T13:14:19+02:00 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP650410.RAoVwKIm1dQ8v7q_4N0j7MPlcfUCo3Qi6HuiseM7PG_ms 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