Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR MUTATION
VDR MUTATION
NOS2 p.Thr919= (p.T919=) ( ENST00000697339.1, ENST00000646938.1, ENST00000313735.11 )
JUN p.Gln250= (p.Q250=) ( ENST00000371222.4, ENST00000710273.1 )
IFNA5 p.Thr151= (p.T151=) ( ENST00000610521.2 )
NOS2 p.Thr919= (p.T919=) ( ENST00000313735.11, ENST00000646938.1, ENST00000697339.1 )
JUN p.Gln250= (p.Q250=) ( ENST00000371222.4, ENST00000710273.1 )
IFNA5 p.Thr151= (p.T151=) ( ENST00000610521.2 ) - Associated Disease
- bronchiolitis
- Source Database
- DisGeNET
- Description
- SNPs in the innate immune genes VDR (rs10735810; P=.0017), JUN (rs11688; P=.0093), IFNA5 (rs10757212; P=.0093), and NOS2 (rs1060826; P=.0031) demonstrated the strongest association with bronchiolitis.
- Pubmed
- 17703412
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2007
Drugs