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
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: 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: 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: rs782511378
rs782511378
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
A 0.700 GeneticVariation CLINVAR
dbSNP: rs782528935
rs782528935
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
A 0.700 GeneticVariation CLINVAR
dbSNP: rs797045588
rs797045588
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
T 0.700 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: 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: 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: 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: 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: rs886041596
rs886041596
Entrez Id: 50943
Gene Symbol: FOXP3
FOXP3
CUI: C0342288
Disease:
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
A 0.700 GeneticVariation CLINVAR X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. 11137992 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 The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. 11137993 2001