http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_head http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_provenance http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://identifiers.org/ncbigene/29851 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/C0340971 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/DGN3e338711dc5bb9fd298a134c7f2a6e0f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/29851 http://rdf.disgenet.org/resource/gda/DGN3e338711dc5bb9fd298a134c7f2a6e0f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0340971 http://rdf.disgenet.org/resource/gda/DGN3e338711dc5bb9fd298a134c7f2a6e0f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_provenance http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://purl.org/dc/terms/description [The identification of a total of 9 ICOS-deficient patients revealed that this monogenic disease comprises the full clinical phenotype described for common variable immunodeficiency (CVID), including recurrent bacterial infections, adult as well as childhood onset, splenomegaly, autoimmune phenomena (autoimmune neutropenia), intestinal lymphoid hyperplasia, and malignancy (carcinoma of the vulva).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16384931 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/dc/terms/created 2015-08-25T14:46:46+02:00 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP894571.RAi_dk_wRp2XfMjFlci2vnp7LApqK3m1bHuapNxWfR8Pk http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0