http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#head http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#assertion http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#provenance http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#assertion http://rdf.disgenet.org/resource/gda/DGN0c101cbf69897bbc3e1204535f2462ac http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/30061 http://rdf.disgenet.org/resource/gda/DGN0c101cbf69897bbc3e1204535f2462ac http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3899989 http://rdf.disgenet.org/resource/gda/DGN0c101cbf69897bbc3e1204535f2462ac http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#provenance http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#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/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#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/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20648054 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#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/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/dc/terms/created 2017-10-17T13:18:26+02:00 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1298229.RAHB7vMmXFKVq8pS0PuFabXnTsPi1tXOgD68vaP_LTKxE 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