Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA p.Lys903del (p.K903del)
(
ENST00000390015.7,
ENST00000570803.6,
ENST00000714062.1,
ENST00000714057.1,
ENST00000714054.1,
ENST00000577106.6,
ENST00000714058.1,
ENST00000302262.8,
ENST00000714055.1 )
GAA p.Lys903del (p.K903del) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Leu299Pro (p.L299P) ( ENST00000302262.8, ENST00000714055.1, ENST00000714058.1, ENST00000390015.7, ENST00000570803.6, ENST00000714062.1, ENST00000714057.1, ENST00000577106.6, ENST00000714054.1 )
GAA p.Leu299Arg (p.L299R) ( ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714062.1, ENST00000390015.7, ENST00000570803.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Met318Thr (p.M318T) ( ENST00000714062.1, ENST00000570803.6, ENST00000390015.7, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1 )
GAA p.Glu521Lys (p.E521K) ( ENST00000570803.6, ENST00000714058.1, ENST00000302262.8, ENST00000714055.1, ENST00000714062.1, ENST00000390015.7, ENST00000714054.1, ENST00000577106.6, ENST00000714057.1 )
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.Leu299Pro (p.L299P) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Leu299Arg (p.L299R) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Met318Thr (p.M318T) ( ENST00000302262.8, ENST00000390015.7, ENST00000570803.6, ENST00000577106.6, ENST00000714054.1, ENST00000714055.1, ENST00000714057.1, ENST00000714058.1, ENST00000714062.1 )
GAA p.Glu521Lys (p.E521K) ( 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, infantile
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs