Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ala5Thr (p.A5T)
(
ENST00000389995.4,
ENST00000270142.11 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Cys7Phe (p.C7F) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly13Arg (p.G13R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly17Ser (p.G17S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Glu22Lys (p.E22K) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly38Arg (p.G38R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu39Val (p.L39V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Ser (p.G42S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Asp (p.G42D) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His44Arg (p.H44R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Phe46Cys (p.F46C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His47Arg (p.H47R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly73Ser (p.G73S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His81Arg (p.H81R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu85= (p.L85=) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu85Val (p.L85V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Arg (p.G94R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Cys (p.G94C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Glu101Gly (p.E101G) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu107Val (p.L107V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile114Thr (p.I114T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu127Ter (p.L127*) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ser135Asn (p.S135N) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu145Ser (p.L145S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ala146Thr (p.A146T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile152Thr (p.I152T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ala5Thr (p.A5T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Cys7Phe (p.C7F) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly13Arg (p.G13R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly17Ser (p.G17S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Glu22Lys (p.E22K) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly38Arg (p.G38R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu39Val (p.L39V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Ser (p.G42S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Asp (p.G42D) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His44Arg (p.H44R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Phe46Cys (p.F46C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His47Arg (p.H47R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly73Ser (p.G73S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.His81Arg (p.H81R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu85= (p.L85=) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu85Val (p.L85V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly86Arg (p.G86R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Arg (p.G94R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Cys (p.G94C) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly94Ala (p.G94A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Glu101Gly (p.E101G) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu107Val (p.L107V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile114Thr (p.I114T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu127Ter (p.L127*) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ser135Asn (p.S135N) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Leu145Ser (p.L145S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ala146Thr (p.A146T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile152Thr (p.I152T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- NA
Drugs