http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#head
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#assertion
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#provenance
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#assertion
http://rdf.disgenet.org/resource/gda/DGNc660ada3151f213152df98c6f1c4f95c
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5122
http://rdf.disgenet.org/resource/gda/DGNc660ada3151f213152df98c6f1c4f95c
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0028754
http://rdf.disgenet.org/resource/gda/DGNc660ada3151f213152df98c6f1c4f95c
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#provenance
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#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/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#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/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17191030
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#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/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/dc/terms/created
2017-10-17T13:15:14+02:00
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP792703.RALGwQreuv4ibv4SZw6Aa2fo7U3ZO3uuaRPDfOB-IlAHE
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