http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#head
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#provenance
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://rdf.disgenet.org/resource/gda/DGN1e19c012129b9a97dbfad4e6171a87f3
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/1311
http://rdf.disgenet.org/resource/gda/DGN1e19c012129b9a97dbfad4e6171a87f3
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0026760
http://rdf.disgenet.org/resource/gda/DGN1e19c012129b9a97dbfad4e6171a87f3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#provenance
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://purl.org/dc/terms/description
[These observations are similar to those for mutations in the cartilage oligomeric matrix protein (COMP) leading to multiple epiphyseal dysplasia and pseudoachondroplasia suggesting that retention and accumulation of cartilage proteins in the ER might be a general mechanism involved in the pathogenesis of chondrodysplasias.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16199550
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000203
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://purl.org/pav/importedOn
2017-02-19
http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/dc/terms/created
2017-10-17T13:11:40+02:00
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP231469.RAohSp9x10sm4v01wKIzgpBC87CVhGwOjiW7Crljw7YDc
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0