Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- befree-2016 importedOn "2016-02-19" NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_assertion wasGeneratedBy ECO_0000203 NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_assertion wasDerivedFrom befree-2016 NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_assertion SIO_000772 15358621 NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_assertion evidence source_evidence_literature NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.
- NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_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." NP459281.RAP3khXZFnrCnuJ1ibL_NGBJXpveD7QoX_ErcM0ur4km8130_provenance.