RGD Annotation Report for Hereditary Eye DiseasesRat Genome Database

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An association has been curated linking COL18A1 and Hereditary Eye Diseases in Homo sapiens.

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Suzuki OT, etal., Am J Hum Genet. 2002 Dec;71(6):1320-9. Epub 2002 Nov 1.
2 additional annotations were made from Suzuki OT, etal., Am J Hum Genet. 2002 Dec;71(6):1320-9. Epub 2002 Nov 1.
1625 RGD objects have been annotated to Hereditary Eye Diseases (DOID:9002525)
14 papers in RGD have been used to annotate COL18A1
Qualifier: susceptibility
Curation Notes: Knobloch syndrome, OMIM:267750;DNA:deletion: :c.3514delCT

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