http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_head http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_provenance http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://identifiers.org/ncbigene/387733 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/C0376154 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/DGNa3d9fc7ba310a6c24ba6fd2081251f2c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/387733 http://rdf.disgenet.org/resource/gda/DGNa3d9fc7ba310a6c24ba6fd2081251f2c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0376154 http://rdf.disgenet.org/resource/gda/DGNa3d9fc7ba310a6c24ba6fd2081251f2c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_provenance http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://purl.org/dc/terms/description [The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_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/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24478195 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_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/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/dc/terms/created 2016-05-13T12:50:27+02:00 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1150256.RAnIzirSZExpltx8mBp3Dvd85WKG5su6LK294vXhoUVNs 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