×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.700
GeneticVariation
disease
UNIPROT
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
17517660
2007
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.700
SomaticCausalMutation
disease
ORPHANET
NRAS mutation causes a human autoimmune lymphoproliferative syndrome.
17517660
2007
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.700
Biomarker
disease
GENOMICS_ENGLAND
Trend of mortality from cancer of the breast.
5896945
1965
×
Entrez Id:
4893
Gene Symbol:
NRAS
NRAS
0.700
SomaticCausalMutation
disease
ORPHANET
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.
21079152
2011
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
CausalMutation
disease
CLINVAR
Germline KRAS mutations cause Noonan syndrome.
16474405
2006
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
CausalMutation
disease
CLINVAR
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
24803665
2014
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
GeneticVariation
disease
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
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
Biomarker
disease
GENOMICS_ENGLAND
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.
21063026
2011
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
GeneticVariation
disease
BEFREE
Review of the English literature revealed cutaneous involvements by RALD only in patients with KRAS mutation compared with none of its NRAS counterparts.
31335417
2019
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
GeneticVariation
disease
CLINVAR
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
GeneticVariation
disease
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
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
CausalMutation
disease
CLINVAR
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.
20949621
2011
×
Entrez Id:
3845
Gene Symbol:
KRAS
KRAS
0.630
SomaticCausalMutation
disease
ORPHANET
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.
21079152
2011
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
22237435
2012
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations.
10875918
2000
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
Biomarker
disease
BEFREE
Patients have been identified with defects affecting the extrinsic apoptotic pathway mediated by the protein receptor FAS which results in the autoimmune lymphoproliferative syndrome and more recently in defects affecting the intrinsic apoptotic pathway mediated by RAS proteins resulting in the RAS-associated autoimmune leukoproliferative disorder .
22918222
2012
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing?
23407489
2013
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
21490157
2011
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
10090885
1999
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
CausalMutation
disease
CLINVAR
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.
15459303
2004
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
GeneticVariation
disease
CLINVAR
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.
10090885
1999
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
GeneticVariation
disease
CLINVAR
The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.
9927496
1999
×
Entrez Id:
355
Gene Symbol:
FAS
FAS
0.110
GeneticVariation
disease
CLINVAR
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.
21490157
2011
×
Entrez Id:
356
Gene Symbol:
FASLG
FASLG
0.100
CausalMutation
disease
CLINVAR