http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_head
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_assertion
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_provenance
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_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/C0598589
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/DGNcd74f82427112325aa82a01a0b9fd3d4
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/59341
http://rdf.disgenet.org/resource/gda/DGNcd74f82427112325aa82a01a0b9fd3d4
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0598589
http://rdf.disgenet.org/resource/gda/DGNcd74f82427112325aa82a01a0b9fd3d4
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_provenance
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_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/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_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/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/21964829
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/befree-2016
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_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/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/dc/terms/created
2016-05-13T12:48:45+02:00
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP927883.RAlZQLf7O0FyRVpuvd5benpCruf9FJ7u0s3-BTac96F-o
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