http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#head http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#assertion http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#provenance http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#assertion http://rdf.disgenet.org/resource/gda/DGN0c59f32f501b2b7fd392cf7f3b6ef571 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/3952 http://rdf.disgenet.org/resource/gda/DGN0c59f32f501b2b7fd392cf7f3b6ef571 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0028754 http://rdf.disgenet.org/resource/gda/DGN0c59f32f501b2b7fd392cf7f3b6ef571 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#provenance http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#assertion http://purl.org/dc/terms/description [HH occurs in DAX1 mutations when associated with adrenal insufficiency (adrenal hypoplasia congenita), and is also linked with obesity in patients with mutations of leptin and its receptor, as well as mutations in prohormone convertase 1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#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/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17191030 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#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/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/dc/terms/created 2017-10-17T13:14:16+02:00 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP641688.RAm18DYnMUgryOGlI-i-IW9FeYP0WNv2vFHCbtLHOWcvQ 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