Annotation Detail
Information
- Associated Genes
- CYBA
- Associated Variants
-
CYBA p.Ala124Val (p.A124V)
(
ENST00000261623.8,
ENST00000696156.1,
ENST00000696157.1,
ENST00000696158.1,
ENST00000696159.1,
ENST00000696160.1,
ENST00000696161.1,
ENST00000696162.1,
ENST00000696163.1 )
CYBA p.Gly24Arg (p.G24R) ( ENST00000261623.8, ENST00000569359.5, ENST00000567174.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Ala124Val (p.A124V) ( ENST00000261623.8, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
CYBA p.Gly24Arg (p.G24R) ( 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
- Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.
- Pubmed
- 23910690
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2013
Drugs