RGD Annotation Report for Corneal stromal edemaRat Genome Database

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An association has been curated linking CYP1B1 and Corneal stromal edema in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
7 additional annotations were made from El-Gayar S, etal., Mol Vis. 2009 Jul 8;15:1325-31.
12 RGD objects have been annotated to Corneal stromal edema (HP:0012040)
33 papers in RGD have been used to annotate CYP1B1
Qualifier: susceptibility
Curation Notes: DNA:missense mutations:exons:p.G61E, p.R368H, p.D374N

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