http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_head http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_provenance http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://identifiers.org/ncbigene/2908 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/C0023418 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/DGN78badacda056f6595357fb65070827ea http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2908 http://rdf.disgenet.org/resource/gda/DGN78badacda056f6595357fb65070827ea http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0023418 http://rdf.disgenet.org/resource/gda/DGN78badacda056f6595357fb65070827ea http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_provenance http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://purl.org/dc/terms/description [Comparisons to natural glucocorticoid receptor mutants in the familial glucocorticoid resistance syndrome and steroid resistant leukemias suggest that amino acid substitutions at highly conserved residues may cause severe functional defects and serious illness, while changes at less conserved sites produce lesser alterations and milder disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10898924 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/dc/terms/created 2015-08-25T14:41:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP434930.RA9uukaFBZZ1uoFjVcCrQ1Hm4BC3LnAM4Uz2ouNLEYZF4 http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0