rs121434596
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121913535
|
|
A |
0.720 |
CausalMutation |
CLINVAR |
|
|
|
rs104894360
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs112445441
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913529
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1564686301
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs17860403
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587776450
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730880471
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80358239
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1564696849
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
|
22237435 |
2012 |
rs121913080
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
|
10090885 |
1999 |
rs1564699214
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
|
10090885 |
1999 |
rs1564699214
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing?
|
23407489 |
2013 |
rs121913535
|
|
|
0.720 |
GeneticVariation |
BEFREE |
By harnessing the transformative power of next generation sequencing, we made the unifying diagnosis of RAS-associated autoimmune leukoproliferative disease (RALD), caused by the somatic gain-of-function p.G13C KRAS mutation, in a boy with the seemingly unrelated immune dysregulatory conditions of Rosai-Dorfman and systemic lupus erythematosus (SLE).
|
28043923 |
2017 |
rs121913080
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
|
21490157 |
2011 |
rs1564699214
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
|
21490157 |
2011 |
rs1564696849
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.
|
10875918 |
2000 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
|
20949621 |
2011 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Germline KRAS mutations cause Noonan syndrome.
|
16474405 |
2006 |
rs1564696849
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
|
15459303 |
2004 |
rs121434596
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
|
17517660 |
2007 |
rs104894366
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
|
24803665 |
2014 |
rs121913080
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.
|
9927496 |
1999 |
rs121913535
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We used KRAS mutant (G13C/WT) and wild-type isogenic (WT/WT) iPSCs from the same RALD patients, as well as wild-type (WT<sup>ed</sup>/WT) and heterozygous knockout (Δ<sup>ed</sup>/WT) iPSCs, both obtained by genome editing from the same G13C/WT clone.
|
29983389 |
2018 |