Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA p.Ser251Leu (p.S251L)
(
ENST00000577106.6,
ENST00000570803.6,
ENST00000390015.7,
ENST00000302262.8,
ENST00000714054.1,
ENST00000714055.1,
ENST00000714057.1,
ENST00000714058.1,
ENST00000714062.1 )
GAA p.Ser254Leu (p.S254L) ( ENST00000570803.6, ENST00000577106.6, ENST00000302262.8, ENST00000390015.7, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu262Lys (p.E262K) ( ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Gly615Arg (p.G615R) ( ENST00000714057.1, ENST00000577106.6, ENST00000714054.1, ENST00000570803.6, ENST00000390015.7, ENST00000714062.1, ENST00000302262.8, ENST00000714055.1, ENST00000714058.1 )
GAA p.Asp645Glu (p.D645E) ( ENST00000714055.1, ENST00000302262.8, ENST00000714058.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714057.1 )
GAA p.Asp645= (p.D645=) ( ENST00000714057.1, ENST00000714054.1, ENST00000577106.6, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714058.1, ENST00000714055.1, ENST00000302262.8 )
GAA p.Ser251Leu (p.S251L) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Ser254Leu (p.S254L) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu262Lys (p.E262K) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Gly615Arg (p.G615R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645Glu (p.D645E) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Asp645= (p.D645=) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 ) - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- Therefore, newborn screening for Pompe disease could be successfully conducted by including genotyping and lymphocyte GAA assay, even in a population with mutation heterozygosity and pseudodeficiency.
- Pubmed
- 20080426
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.499337113635194
- Year of publication
- 2010
Drugs