Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_assertion wasGeneratedBy ECO_0000203 NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_assertion wasDerivedFrom befree-20140225 NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_assertion SIO_000772 15358621 NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_assertion evidence source_evidence_literature NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_assertion description "[The hyper immunoglobulin M (IgM) syndrome (HIGM), characterized by recurrent infections, low serum IgG and IgA, normal or elevated IgM, and defective class switch recombination and somatic hypermutation, is a heterogenous disorder with at least 5 distinct molecular defects, including mutations of the genes coding for the CD40 ligand (CD40L) and IKK-gamma (NEMO) genes, both X-linked; and mutations of CD40, activation-induced cytidine deaminase (AICDA), and uracil-DNA glycosylase (UNG), associated with autosomal recessive HIGM syndromes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.
- befree-20140225 importedOn "2014-02-25" NP369093.RA_7_GHYO96y9Ni_2MSba5_QYom2c2vw9tl4ppsd3Y02A130_provenance.