http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_head
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://identifiers.org/ncbigene/3982
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/C0009691
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/DGN091fd68cbad46b87273ade8dd70bf143
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/3982
http://rdf.disgenet.org/resource/gda/DGN091fd68cbad46b87273ade8dd70bf143
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0009691
http://rdf.disgenet.org/resource/gda/DGN091fd68cbad46b87273ade8dd70bf143
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://purl.org/dc/terms/description
[Mutations in the 13 known genes (CRYAA, CRYAB, CRYBB1, CRYBB2, CRYGC, CRYBA1/A3, CRYGD, Connexin50, Connexin46, intrinsic membrane protein LIM2, cytoskeletal protein BFSP2, the major intrinsic protein-MIP and the heat shock factor HSF4) have previously been demonstrated to be the frequent reason for isolated congenital cataracts, but the exact molecular basis and underlying mechanisms of congenital cataract still remain unclear.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_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/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21181374
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_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/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/dc/terms/created
2015-08-25T14:42:57+02:00
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP536765.RABjjipqdjQcQ02yL-LCRBjOtXWoXr6PtmrdmJZoxLUyk
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