http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_head http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://identifiers.org/ncbigene/5309 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/C0026010 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/DGNcebbb36ff85c7e0d871e04d80fd5eced http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5309 http://rdf.disgenet.org/resource/gda/DGNcebbb36ff85c7e0d871e04d80fd5eced http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026010 http://rdf.disgenet.org/resource/gda/DGNcebbb36ff85c7e0d871e04d80fd5eced http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_provenance http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://purl.org/dc/terms/description [Human patients with point mutations in PITX3 demonstrate congenital cataracts along with anterior segment defects in some cases when one allele is affected and microphthalmia with brain malformations when both copies are mutated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/17888164 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/dc/terms/created 2016-05-13T12:46:31+02:00 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP631284.RAmQuwvqDAqqFGezr4YZCTnGFC1pQx8GKxABGAZ7KmS9Q http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0