http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_head http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion http://identifiers.org/ncbigene/59341 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/C0265281 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#DGNaee08b9b7b1bfb3a3f8c1a7726c83dd1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/59341 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaee08b9b7b1bfb3a3f8c1a7726c83dd1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265281 http://rdf.disgenet.org/gene-disease-association.ttl#DGNaee08b9b7b1bfb3a3f8c1a7726c83dd1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_provenance http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion http://purl.org/dc/terms/description [Dominant mutations in the receptor calcium channel gene TRPV4 have been associated with a family of skeletal dysplasias (metatropic dysplasia, pseudo-Morquio type 2, spondylometaphyseal dysplasia, Kozlowski type, brachyolmia, and familial digital arthropathy) as well as with dominantly inherited neuropathies (hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy, and congenital distal spinal muscular atrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_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#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21964829 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_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#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_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#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/dc/terms/created 2014-10-02T12:35:33+02:00 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP364018.RAjIUIskg41QF_i8kjAVSNpx_xTStzEnU6CVn3631--jc 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