Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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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 | ||||
|
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 | ||||
|
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 | ||||
|
0.630 | CausalMutation | disease | CLINVAR | Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. | 24803665 | 2014 | ||||
|
0.630 | Biomarker | disease | GENOMICS_ENGLAND | Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. | 21063026 | 2011 | ||||
|
0.630 | CausalMutation | disease | CLINVAR | Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders. | 20949621 | 2011 | ||||
|
0.630 | SomaticCausalMutation | disease | ORPHANET | Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis. | 21079152 | 2011 | ||||
|
0.630 | CausalMutation | disease | CLINVAR | Germline KRAS mutations cause Noonan syndrome. | 16474405 | 2006 | ||||
|
0.630 | GeneticVariation | disease | CLINVAR |