Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. 21458306

2011
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: inconsistent correlation between forkhead box protein 3 expression and disease severity. 18951619

2008
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993

2001
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). 11768393

2001
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 11137992

2001
dbSNP: rs122467169
rs122467169
FOXP3
0.800 GeneticVariation UNIPROT JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. 11120765

2000
dbSNP: rs122467169
rs122467169
FOXP3
C 0.800 CausalMutation CLINVAR