http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_head http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_provenance http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://identifiers.org/ncbigene/10456 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/C0340970 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/DGN7e0dc027ce0d4574414b34bb94179a0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10456 http://rdf.disgenet.org/resource/gda/DGN7e0dc027ce0d4574414b34bb94179a0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0340970 http://rdf.disgenet.org/resource/gda/DGN7e0dc027ce0d4574414b34bb94179a0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_provenance http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://purl.org/dc/terms/description [Recent studies have shown that homozygous mutations in the HAX1 gene are associated with autosomal recessive forms of severe congenital neutropenia (also known as Kostmann disease), and results from studies in mice and men are beginning to unravel a prominent role for HAX-1 in apoptosis signaling not only in the hematopoietic compartment, but also in the central nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_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/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19524642 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_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/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/dc/terms/created 2016-05-13T12:47:23+02:00 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP745202.RAvoaWUtfCgWwhbjrZJPko-13IW48ZKEcTP7EC8Wh-ZW8 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