rs1329735599
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.
|
24098149 |
2013 |
rs771470596
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
|
30651074 |
2019 |
rs397514519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.
|
24098149 |
2013 |
rs74315389
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional studies, including chondrogenesis assays with primary mesenchymal cells, luciferase reporter gene assays and Surface Plasmon Resonance analysis, of the GDF5(W414R) variant in comparison to other GDF5 mutations associated with isolated BDA1 (p.R399C) or SYNS2 (p.E491K) revealed a dual pathomechanism characterized by a gain- and loss-of-function at the same time.
|
24098149 |
2013 |
rs369404558
|
|
|
0.010 |
GeneticVariation |
BEFREE |
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
|
30651074 |
2019 |
rs121917853
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917853
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |
rs121917853
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).
|
21537345 |
2011 |
rs121917853
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
rs121917861
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606872
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs267606873
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121917852
|
|
|
0.810 |
GeneticVariation |
BEFREE |
p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation.
|
30651074 |
2019 |
rs121917852
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
rs121917852
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).
|
21537345 |
2011 |
rs121917852
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |
rs121917852
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121917854
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |
rs121917854
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
In this paper, we analyzed three BDA1 mutations (E95K, D100E, and E131K) in the N-terminal fragment of Indian Hedgehog (IhhN).
|
21537345 |
2011 |
rs121917854
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
rs121917854
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917855
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
|
12384778 |
2002 |
rs121917855
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121917855
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
|
21537345 |
2011 |
rs121917855
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
|
11455389 |
2001 |