RGD Annotation Report for hyperimmunoglobulin syndromeRat Genome Database

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An association has been curated linking CD40 and hyperimmunoglobulin syndrome in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Ferrari S, etal., Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9.
2 additional annotations were made from Ferrari S, etal., Proc Natl Acad Sci U S A. 2001 Oct 23;98(22):12614-9.
85 RGD objects have been annotated to hyperimmunoglobulin syndrome (DOID:2959)
119 papers in RGD have been used to annotate CD40
Curation Notes: DNA:mutations:exons (human)

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.