RGD Annotation Report for nephrotic syndrome type 2Rat Genome Database

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An association has been curated linking TRPC6 and nephrotic syndrome type 2 in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Mir S, etal., Nephrol Dial Transplant. 2012 Jan;27(1):205-9. doi: 10.1093/ndt/gfr202. Epub 2011 Apr 21.
6 additional annotations were made from Mir S, etal., Nephrol Dial Transplant. 2012 Jan;27(1):205-9. doi: 10.1093/ndt/gfr202. Epub 2011 Apr 21.
22 RGD objects have been annotated to nephrotic syndrome type 2 (DOID:0080379)
26 papers in RGD have been used to annotate TRPC6
Curation Notes: DNA:missense mutations, SNPs:exon, intron:multiple

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