http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#head http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#assertion http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#provenance http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#assertion http://rdf.disgenet.org/resource/gda/DGNb070804c58fbc19a4b33c643df7626f8 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10456 http://rdf.disgenet.org/resource/gda/DGNb070804c58fbc19a4b33c643df7626f8 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0340970 http://rdf.disgenet.org/resource/gda/DGNb070804c58fbc19a4b33c643df7626f8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#provenance http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#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/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#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/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19524642 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#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/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/dc/terms/created 2017-10-17T13:17:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1216592.RAK4Fb6wHAOmJ22bbOXhHaZsoCcQwgqCwTBs7Uoj6Tb2E 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