http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_head http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_assertion http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_provenance http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_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/C0546966 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/DGN2bf113479e011e2049153936b4efdcb4 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3892 http://rdf.disgenet.org/resource/gda/DGN2bf113479e011e2049153936b4efdcb4 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0546966 http://rdf.disgenet.org/resource/gda/DGN2bf113479e011e2049153936b4efdcb4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_provenance http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_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/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_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/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12688839 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_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/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/dc/terms/created 2016-05-13T12:44:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP390556.RABzJPJB0VpQu-B3wE4fCSR2xrA5DpQY_SAr32SFjx_wE 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