http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_head http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://identifiers.org/ncbigene/2253 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/C0271623 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/gene-disease-association.ttl#DGN15fbd916e49c0ef826d6892b84e4ab3e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2253 http://rdf.disgenet.org/gene-disease-association.ttl#DGN15fbd916e49c0ef826d6892b84e4ab3e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271623 http://rdf.disgenet.org/gene-disease-association.ttl#DGN15fbd916e49c0ef826d6892b84e4ab3e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_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/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19719764 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/dc/terms/created 2014-10-02T12:39:51+02:00 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP776805.RAkS25IuG2mqlirRNf2V5Emnn9zGrf76MelBioklNmjX8 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0