http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_head http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://identifiers.org/ncbigene/6696 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/C1328840 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/DGNb767187c96a7680a29bcc6effb46011c http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6696 http://rdf.disgenet.org/resource/gda/DGNb767187c96a7680a29bcc6effb46011c http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1328840 http://rdf.disgenet.org/resource/gda/DGNb767187c96a7680a29bcc6effb46011c http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_provenance http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://purl.org/dc/terms/description [A role for other modifying genes was suggested by the finding that the healthy father exhibited defective Fas function, without mutation of the FAS gene, and had transmitted to the patient an osteopontin (OPN) gene variant previously associated with ALPS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_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/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/24043286 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_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/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/dc/terms/created 2016-05-13T12:50:09+02:00 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1111468.RAPJpckLcMhs63zqC5TgyeLEgdzkQhzIKMS7mWgkBy2D0 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