RGD Annotation Report for nephrotic syndrome type 2Rat Genome Database

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An association has been curated linking PLCE1 and nephrotic syndrome type 2 in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Boyer O, etal., J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.
2 additional annotations were made from Boyer O, etal., J Med Genet. 2010 Jul;47(7):445-52. doi: 10.1136/jmg.2009.076166.
22 RGD objects have been annotated to nephrotic syndrome type 2 (DOID:0080379)
9 papers in RGD have been used to annotate PLCE1
Curation Notes: DNA:mutations: :

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