http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_head
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://identifiers.org/ncbigene/4041
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/C0265301
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/DGN3fdf0e7def1364146e2325fc1fddb306
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4041
http://rdf.disgenet.org/resource/gda/DGN3fdf0e7def1364146e2325fc1fddb306
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0265301
http://rdf.disgenet.org/resource/gda/DGN3fdf0e7def1364146e2325fc1fddb306
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_provenance
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://purl.org/dc/terms/description
[Together with a significant reduced ability to bind to LRP5 and inhibit Wnt signaling, the p.Cys167Arg mutation leads to a complete loss of function of sclerostin and thus to the characteristic sclerosteosis phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_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/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/20583295
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v3.0.0/void/befree-20150227
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_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/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/dc/terms/created
2015-08-25T14:42:59+02:00
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v3.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP540120.RAMAp6dRSVH5ymO_lo0O4M_ZgWXXPWSlc31V9oAia4Swg
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