The Pompe disease GAA variant database is a coordinated effort to collect variants in the GAA gene, and provide the appropriate data which will lead to a better understanding of the disease-associated variants causing Pompe disease.
The main page lists all the variants currently known in the GAA gene and provides general information about each variants as well as its pathogenicity. To make this database more serviceable we provided additional data and information about a variant in several sections.
To make this database more serviceable, we included several options which make it possible to analyze the dataset or a set of variants/ patients based on your own criteria.
This database presents a continuous effort to increase our understanding of the variants causing Pompe disease. Your help in expanding this database would be greatly appreciated. As this project is based on analyzing published literature it would be of service that, if you find some information lacking or incorrect, you contact us to help us improve it.
It is possible to contact the administrators of the Pompe disease GAA variant database using: firstname.lastname@example.org