http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_head http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_provenance http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://identifiers.org/ncbigene/5076 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/C0009363 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/DGNff66ed0d9d059c2b139d463bb82b620d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5076 http://rdf.disgenet.org/resource/gda/DGNff66ed0d9d059c2b139d463bb82b620d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0009363 http://rdf.disgenet.org/resource/gda/DGNff66ed0d9d059c2b139d463bb82b620d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_provenance http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://purl.org/dc/terms/description [From experimental data that upstream expression of sonic hedgehog (SHH) controls Pax2 expression in mice and zebrafish, and from clinical experience that colobomas are observed frequently in patients with holoprosencephaly, we hypothesized that SHH could be a candidate for non-syndromic ocular colobomas (NSOC).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_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/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12503095 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_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/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/dc/terms/created 2015-08-25T14:43:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP609188.RAyj-SN8fhyC7DiUrJ8GERVori4HfYUObVOpvXlpqt4S8 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