|
rs121909106
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
|
0.810 |
GeneticVariation |
BEFREE |
We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model.
|
16081467 |
2005 |
|
rs121909106
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
|
11371511 |
2001 |
|
rs121909106
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene.
|
11499682 |
2001 |
|
rs121909106
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
|
11078474 |
2000 |
|
rs121909106
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121909107
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
|
0.710 |
GeneticVariation |
BEFREE |
We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model.
|
16081467 |
2005 |
|
rs121909107
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1043354227
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs104894516
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571065
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
CCT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571075
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571141
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571184
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571276
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571345
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
GC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571360
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
ACAAA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571564
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571636
|
FOXC2;FOXC2-AS1
|
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571702
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
GCGGC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571823
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1567571863
|
FOXC2;FOXC2-AS1
|
Lymphedema distichiasis syndrome
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1035550
|
FOXC2;FOXC2-AS1
|
Varicosity
|
|
0.010 |
GeneticVariation |
BEFREE |
Polymorphisms rs7189489, rs4633732, and rs1035550 showed the association with the increased risk of var</span>icose veins, but none of the observed associations remained significant after correction for multiple testing.
|
26420053 |
2016 |
|
rs34221221
|
FOXC2;FOXC2-AS1
|
Varicosity
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype analysis revealed the association of haplotype rs7189489 C-rs4633732 T-rs34221221 C-rs1035550 C-rs34152738 T-rs12711457 G with the increased risk of varicose veins (OR = 2.67, P = 0.01).
|
26420053 |
2016 |
|
rs121909106
|
FOXC2;FOXC2-AS1
|
Milroy Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model.
|
16081467 |
2005 |
|
rs121909107
|
FOXC2;FOXC2-AS1
|
Milroy Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed the molecular consequences of two disease-causing missense mutations (R121H and S125L) occurring in the FHD of the FOXC2 gene that were identified in patients with hereditary lymphedema with distichiasis (LD) to test the predictive capacity of a FHD structure/function model.
|
16081467 |
2005 |