http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_head http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_provenance http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://identifiers.org/ncbigene/2660 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/C0013720 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/DGN82627fdf5d197f4325c0e580e9fe41ba http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2660 http://rdf.disgenet.org/resource/gda/DGN82627fdf5d197f4325c0e580e9fe41ba http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0013720 http://rdf.disgenet.org/resource/gda/DGN82627fdf5d197f4325c0e580e9fe41ba http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_provenance http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://purl.org/dc/terms/description [This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, NAB1, GLS, STAT1, and STAT4), mutations in three of which (COL5A2, SLC40A1, and MSTN) have also been associated with an autosomal dominant disorder (EDS classical type, hemochromatosis type 4, and muscle hypertrophy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_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/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20648054 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_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/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/dc/terms/created 2015-08-25T14:41:45+02:00 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP422105.RAu1UsnJcJGjwSQeO_tB8vuG3OglYLn1qpEkDCFHsWWp8 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