Annotation Detail
Information
- Associated Genes
- ADGRE1
- Associated Variants
-
ADGRE1 p.Lys496Gln (p.K496Q)
(
ENST00000250572.12,
ENST00000312053.9,
ENST00000381404.8,
ENST00000381407.9,
ENST00000450315.7 )
CFTR c.1680-124T>C ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 )
ADGRE1 p.Lys496Gln (p.K496Q) ( ENST00000250572.12, ENST00000312053.9, ENST00000381404.8, ENST00000381407.9, ENST00000450315.7 )
CFTR c.1680-124T>C ( ENST00000003084.11, ENST00000648260.1, ENST00000649406.1, ENST00000649781.2, ENST00000699602.1, ENST00000699605.1 ) - Associated Disease
- cystic fibrosis
- Source Database
- DisGeNET
- Description
- Repetitive MAS were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00003) and cystic fibrosis transmembrane conductance receptor-rs17140229 in the pooled analysis (p = 0.00543).
- Pubmed
- 23614351
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs