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: 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: rs28935477
rs28935477
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 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: rs28935477
rs28935477
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 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 		0.800 GeneticVariation UNIPROT X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 11137992 2001
dbSNP: rs28935477
rs28935477
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: rs28935477
rs28935477
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: rs28935477
rs28935477
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 JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. 11120765 2000
dbSNP: rs28935477
rs28935477
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 		C 0.800 CausalMutation CLINVAR
dbSNP: rs28935477
rs28935477
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation UNIPROT Structure of a domain-swapped FOXP3 dimer on DNA and its function in regulatory T cells. 21458306 2011
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation BEFREE Three patients with two novel mutations (R337Q and P339A) and the previously reported L76QfsX53 developed classic IPEX syndrome and died within the first 13 months. 18931102 2009
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 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: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation UNIPROT Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX). 11768393 2001
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation UNIPROT X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 11137992 2001
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation UNIPROT The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993 2001
dbSNP: rs886044787
rs886044787
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		0.710 GeneticVariation UNIPROT JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome. 11120765 2000
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 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: 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: rs886041596
rs886041596
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		A 0.700 GeneticVariation CLINVAR The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993 2001