http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#head http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#provenance http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion http://rdf.disgenet.org/resource/gda/DGNbc5141b5f980352d27b00aa94bde7500 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5309 http://rdf.disgenet.org/resource/gda/DGNbc5141b5f980352d27b00aa94bde7500 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026010 http://rdf.disgenet.org/resource/gda/DGNbc5141b5f980352d27b00aa94bde7500 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#provenance http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion http://purl.org/dc/terms/description [Heterozygous missense mutations in PITX3 have been reported in patients with autosomal dominant congenital cataract and anterior segment (ocular) mesenchymal dysgenesis (ASMD) whereas homozygous missense mutations have been found in patients with microphthalmia and neurological impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#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/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22223473 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#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/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/dc/terms/created 2017-10-17T13:15:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP824079.RAbtWr6nXfnFM3HCZYJMWo-GyL1Hgb0oN2HlSdzJ27uSo 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