http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#head http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#assertion http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#provenance http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#assertion http://rdf.disgenet.org/resource/gda/DGNe4327d402469461cdc4f702df972ff39 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2253 http://rdf.disgenet.org/resource/gda/DGNe4327d402469461cdc4f702df972ff39 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0271623 http://rdf.disgenet.org/resource/gda/DGNe4327d402469461cdc4f702df972ff39 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#provenance http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#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/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#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/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19719764 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#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/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/dc/terms/created 2017-10-17T13:12:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP395201.RAygIez5b99v1_uKQhv1bS443hWaFjDJi9-sO7zcqh8SY 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