RGD Annotation Report for blepharophimosisRat Genome Database

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An association has been curated linking SNX9 and blepharophimosis in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11522973 (Homo sapiens)
18 RGD objects have been annotated to blepharophimosis (DOID:10348)
3 papers in RGD have been used to annotate SNX9
Curation Notes: ClinVar Annotator: match by term: Blepharophimosis
Original References(s): PMID:24674232

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