Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly13Arg (p.G13R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly42Ser (p.G42S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly13Arg (p.G13R) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Gly42Ser (p.G42S) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- Progressive cGVHD
- Source Database
- DisGeNET
- Description
- In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype.
- Pubmed
- 15789135
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2005
Drugs