http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#head
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#assertion
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#provenance
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#assertion
http://rdf.disgenet.org/resource/gda/DGN6b060b93a481627c7dd0f8fabe773f19
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5309
http://rdf.disgenet.org/resource/gda/DGN6b060b93a481627c7dd0f8fabe773f19
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0266449
http://rdf.disgenet.org/resource/gda/DGN6b060b93a481627c7dd0f8fabe773f19
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#provenance
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#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/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#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/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/17888164
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#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/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/dc/terms/created
2017-10-17T13:15:26+02:00
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP824121.RAUlzEJ30ichly9I-GF-G6a8CbNBO-Z0xqehDBeeig8u4
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