http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#head http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#assertion http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#provenance http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#assertion http://rdf.disgenet.org/resource/gda/DGN0b43853e85e957f66f45aa72a96c0b35 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/7157 http://rdf.disgenet.org/resource/gda/DGN0b43853e85e957f66f45aa72a96c0b35 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0014527 http://rdf.disgenet.org/resource/gda/DGN0b43853e85e957f66f45aa72a96c0b35 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#provenance http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#assertion http://purl.org/dc/terms/description [We review the importance of C-->T transitions at non-island CpGs in human disease: When these occur in the germline, they are a common cause of inherited diseases such as epidermolysis bullosa and mucopolysaccharidosis, while in the soma they are frequently found in the genes for tumor suppressors such as p53 and the retinoblastoma protein, causing cancer.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#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/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16570853 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#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/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/dc/terms/created 2017-10-17T13:17:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1069974.RANTHH2rsK3RiPFEkWuhfmcaP3w-1J0Cw3vUa4tX6fJ-8 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