http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#head http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#assertion http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#provenance http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#assertion http://rdf.disgenet.org/resource/gda/DGNc6c8341546918caa5717e8c9ba0a9bce http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2138 http://rdf.disgenet.org/resource/gda/DGNc6c8341546918caa5717e8c9ba0a9bce http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0546969 http://rdf.disgenet.org/resource/gda/DGNc6c8341546918caa5717e8c9ba0a9bce http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#provenance http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#assertion http://purl.org/dc/terms/description [PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#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/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/11558900 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#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/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/dc/terms/created 2017-10-17T13:12:33+02:00 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP373578.RAuRMo7YSuSq3Q6oCCcmfr74K8jmgfC92_d3one51H98I 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