http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_head http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://identifiers.org/ncbigene/23554 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/C0011053 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/gene-disease-association.ttl#DGN0bbc3ea94c1725655dddc06af4cdf35c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/23554 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0bbc3ea94c1725655dddc06af4cdf35c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011053 http://rdf.disgenet.org/gene-disease-association.ttl#DGN0bbc3ea94c1725655dddc06af4cdf35c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_provenance http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://purl.org/dc/terms/description [Mutations in Norrin, the ligand of a receptor complex consisting of FZD4, LRP5 and TSPAN12, cause severe developmental blood vessel defects in the retina and progressive loss of the vascular system in the inner ear, which lead to congenital blindness and progressive hearing loss, respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22394677 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/dc/terms/created 2014-10-02T12:39:18+02:00 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP722521.RAXujVkDTalefjDNLhtwOO2ZmBMWH1E8orA47tpdjtKR8 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0