Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 SomaticCausalMutation ORPHANET Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. 21079152

2011
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 GeneticVariation UNIPROT NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 17517660

2007
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 SomaticCausalMutation ORPHANET NRAS mutation causes a human autoimmune lymphoproliferative syndrome. 17517660

2007
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 Biomarker GENOMICS_ENGLAND Trend of mortality from cancer of the breast. 5896945

1965
Entrez Id: 4893
Gene Symbol: NRAS
NRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.700 CausalMutation CLINVAR

Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 GeneticVariation 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
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 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
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 Biomarker GENOMICS_ENGLAND Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. 21063026

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 CausalMutation CLINVAR Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. 20949621

2011
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 SomaticCausalMutation 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
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 CausalMutation CLINVAR Germline KRAS mutations cause Noonan syndrome. 16474405

2006
Entrez Id: 3845
Gene Symbol: KRAS
KRAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.630 GeneticVariation CLINVAR

Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation CLINVAR Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? 23407489

2013
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation 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
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 Biomarker 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
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157

2011
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 GeneticVariation CLINVAR FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157

2011
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation CLINVAR Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 15459303

2004
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation CLINVAR Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 10875918

2000
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 CausalMutation CLINVAR Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 GeneticVariation CLINVAR Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 10090885

1999
Entrez Id: 355
Gene Symbol: FAS
FAS
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.110 GeneticVariation CLINVAR The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. 9927496

1999
Entrez Id: 356
Gene Symbol: FASLG
FASLG
CUI: C2674723
Disease: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER 		0.100 CausalMutation CLINVAR