http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#head http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#assertion http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#provenance http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#assertion http://rdf.disgenet.org/resource/gda/DGN11b5c69e34045078ee440ceb6b83b2e0 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6770 http://rdf.disgenet.org/resource/gda/DGN11b5c69e34045078ee440ceb6b83b2e0 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0342492 http://rdf.disgenet.org/resource/gda/DGN11b5c69e34045078ee440ceb6b83b2e0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#provenance http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#assertion http://purl.org/dc/terms/description [Congenital lipoid adrenal hyperplasia is an autosomal recessive condition due to mutations in Steroidogenic Acute Regulatory Protein (StAR) associated with the inability to synthesize all adrenal and gonadal steroids, resulting in adrenal insufficiency and failure to develop male genitalia in affected 46,XY individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#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/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18058976 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#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/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/dc/terms/created 2017-10-17T13:16:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP983481.RAPhPn2B7J5JEIu4fUQp4icF_sDxH4Zb_jTZC2Cmmsxvg 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