Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4311
Gene Symbol: MME
MME 		0.010 AlteredExpression disease BEFREE Immunophenotyping peripheral blood from RALD patients shows characteristic circulating activated monocytes and polyclonal CD10(+) B cells. 25691160 2015
Entrez Id: 356
Gene Symbol: FASLG
FASLG 		0.100 CausalMutation disease CLINVAR
Entrez Id: 843
Gene Symbol: CASP10
CASP10 		0.100 CausalMutation disease CLINVAR
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 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 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 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 21490157 2011
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: 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 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 CausalMutation 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 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: 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 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 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 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
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 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: 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 GeneticVariation disease CLINVAR
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: 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