Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Ser118= (p.S118=)
(
ENST00000696156.1,
ENST00000261623.8,
ENST00000696158.1,
ENST00000569359.5,
ENST00000696162.1,
ENST00000696157.1,
ENST00000696161.1,
ENST00000696159.1,
ENST00000567174.5,
ENST00000696160.1,
ENST00000696163.1 )
CYBA p.Ser118Arg (p.S118R) ( ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5, ENST00000696162.1, ENST00000696157.1, ENST00000696161.1, ENST00000696159.1, ENST00000567174.5, ENST00000696160.1, ENST00000696163.1 )
CYBA p.Arg90Trp (p.R90W) ( ENST00000696162.1, ENST00000567174.5, ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5, ENST00000696157.1, ENST00000696161.1, ENST00000696159.1, ENST00000696160.1, ENST00000696163.1 )
CYBA p.Arg90Gly (p.R90G) ( ENST00000696162.1, ENST00000696157.1, ENST00000696161.1, ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5, ENST00000696163.1, ENST00000696159.1, ENST00000567174.5, ENST00000696160.1 )
CYBA p.Leu52Pro (p.L52P) ( ENST00000696163.1, ENST00000696159.1, ENST00000567174.5, ENST00000696160.1, ENST00000696162.1, ENST00000696157.1, ENST00000696161.1, ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5 )
CYBA p.Gly25Val (p.G25V) ( ENST00000567174.5, ENST00000696160.1, ENST00000696159.1, ENST00000696163.1, ENST00000696158.1, ENST00000569359.5, ENST00000696156.1, ENST00000261623.8, ENST00000696161.1, ENST00000696162.1, ENST00000696157.1 )
CYBA p.Ser118= (p.S118=) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Ser118Arg (p.S118R) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Arg90Trp (p.R90W) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Arg90Gly (p.R90G) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Leu52Pro (p.L52P) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Gly25Val (p.G25V) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 ) - Associated Disease
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
- Source Database
- DisGeNET
- Description
- Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox).
- Pubmed
- 10910929
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2000
Drugs