http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_head http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://identifiers.org/ncbigene/25974 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/C0042847 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/DGN93bdd30d1e0cbc45e38d29c587ba5913 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/25974 http://rdf.disgenet.org/resource/gda/DGN93bdd30d1e0cbc45e38d29c587ba5913 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0042847 http://rdf.disgenet.org/resource/gda/DGN93bdd30d1e0cbc45e38d29c587ba5913 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://purl.org/dc/terms/description [The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/25740848 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/dc/terms/created 2016-05-13T12:51:21+02:00 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0