http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_head http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://identifiers.org/ncbigene/60675 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/C0003126 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/DGN2a9c5906efeb98dcfe37cbc21d81885c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/60675 http://rdf.disgenet.org/resource/gda/DGN2a9c5906efeb98dcfe37cbc21d81885c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0003126 http://rdf.disgenet.org/resource/gda/DGN2a9c5906efeb98dcfe37cbc21d81885c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://purl.org/dc/terms/description [Several themes have emerged as the genetic basis of HH has gradually been uncovered, including the association of some genes such as FGFR1, FGF8, PROK2 and PROKR2, both with HH in association with hyposmia/anosmia (Kallmann syndrome) and with normosmic HH, thus blurring the clinical distinction between ontogenic and purely functional defects in the axis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_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/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19719764 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_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/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/dc/terms/created 2015-08-25T14:47:11+02:00 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP936054.RAuETm4PScXRinsGAdJPSKjowPzk3-E0VjoHn-MWZJCMQ 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