RGD Annotation Report for primary immunodeficiency diseaseRat Genome Database

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An association has been curated linking KIT and primary immunodeficiency disease in Homo sapiens.

The association was inferred from sequence orthology (ISO)
The annotation was made from Waskow C, etal., Immunity. 2002 Sep;17(3):277-88.
The annotation has been inferred from sequence orthology with Kit (Mus musculus) [(IMP) inferred from mutant phenotype]
2 additional annotations were made from Waskow C, etal., Immunity. 2002 Sep;17(3):277-88.
5017 RGD objects have been annotated to primary immunodeficiency disease (DOID:612)
51 papers in RGD have been used to annotate KIT

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