http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_head http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_provenance http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://identifiers.org/ncbigene/3892 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/C0010036 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/DGN8a35fe4a0157fb8c15fcde1e1a469ad9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3892 http://rdf.disgenet.org/resource/gda/DGN8a35fe4a0157fb8c15fcde1e1a469ad9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0010036 http://rdf.disgenet.org/resource/gda/DGN8a35fe4a0157fb8c15fcde1e1a469ad9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_provenance http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://purl.org/dc/terms/description [These include ichthyosis bullosa of Siemens (K2e), epidermolytic palmoplantar keratoderma (K1, K9), pachyonychia congenita (K6a, K6b, K16, K17), white sponge nevus (K4, K13), Meesmann's corneal dystrophy (K3, K12), cryptogenic cirrhosis (K8, K18) and monilethrix (hHb6, hHb1).In general, these disorders are inherited as autosomal dominant traits and the mutations act in a dominant-negative manner.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_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/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12688839 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_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/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/dc/terms/created 2016-05-13T12:44:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP390554.RAkU_YhzH7Q7yPbXaL_4FxEc4jvYj5jFhnNjxGIrR02bE 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