FOXP3, forkhead box P3, 50943

N. diseases: 688; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C1855710
Disease:
Bone marrow hypocellularity 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0032285
Disease:
Pneumonia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0002871
Disease:
Anemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0030312
Disease:
Pancytopenia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.020 GeneticVariation BEFREE Here, we report a 6-year-old boy with late-onset IPEX syndrome due to a c.1190G>A (p. R397Q) mutation in exon 11 of the FOXP3 gene. 29312905 2017
dbSNP: rs1057520529
rs1057520529
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.020 GeneticVariation BEFREE We report a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome due to a de novo c.1190G>A (p.R397Q) mutation in exon 11 of the forkhead domain of the FOXP3 gene. 23534934 2014
dbSNP: rs122467169
rs122467169
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		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
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.800 GeneticVariation UNIPROT The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993 2001
dbSNP: rs122467169
rs122467169
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		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
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		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
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs122467169
rs122467169
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		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
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.800 GeneticVariation UNIPROT X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 11137992 2001
dbSNP: rs122467170
rs122467170
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 CausalMutation CLINVAR Analyses of a Mutant Foxp3 Allele Reveal BATF as a Critical Transcription Factor in the Differentiation and Accumulation of Tissue Regulatory T Cells. 28778586 2017
dbSNP: rs122467170
rs122467170
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 CausalMutation CLINVAR The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993 2001
dbSNP: rs122467170
rs122467170
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 CausalMutation CLINVAR We characterized the cellular and molecular impact of the most common IPEX mutation, p.A384T, on patient-derived T<sub>reg</sub> cells. 28783662 2017
dbSNP: rs122467171
rs122467171
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122467172
rs122467172
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs122467173
rs122467173
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs122467174
rs122467174
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs122467175
rs122467175
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1557115532
rs1557115532
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1569529565
rs1569529565
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1569529715
rs1569529715
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs200554980
rs200554980
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.010 GeneticVariation BEFREE Of these, p.Arg114Trp is likely a benign rare variant found in individuals of Ashkenazi Jewish ancestry and p.Arg347His has been previously described in patients with classic IPEX syndrome. 29193502 2018