| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.560 | GeneticVariation | disease | BEFREE | Here, we report a patient with a severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant, which represents a recurrent substitution in RAS homologs in various cancers. | 31173466 | 2019 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | p.Gly23Val-MRAS is both necessary and sufficient to elicit a cardiac hypertrophy phenotype in iPSC-CMs that includes increased cell size, changes in cardiac gene expression, and abnormal calcium handling-providing further evidence to establish the monogenetic pathogenicity of p.Gly23Val-MRAS in NS with cardiac hypertrophy. | 31638832 | 2019 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | A ternary complex comprised of SHOC2, MRAS, and PP1 (SHOC2 complex) functions as a RAF S259 holophosphatase and gain-of-function mutations in SHOC2, MRAS, and PP1 that promote complex formation are found in Noonan syndrome. | 31213532 | 2019 | ||||
|
0.560 | Biomarker | disease | BEFREE | MRAS has only recently been related to NS based on the observation of two unrelated affected individuals with de novo variants involving the same codons here found mutated. | 31108500 | 2019 | ||||
|
0.560 | GeneticVariation | disease | BEFREE | Activating mutations in MRAS (as well as SHOC2 and PP1) do occur in the RASopathy Noonan syndrome, underscoring a key role for MRAS within the RAS-ERK pathway. | 29311130 | 2018 | ||||
|
0.560 | AlteredExpression | disease | BEFREE | SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. | 30348783 | 2018 | ||||
|
0.560 | Biomarker | disease | CLINGEN | Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. | 28289718 | 2017 | ||||
|
0.560 | GermlineCausalMutation | disease | ORPHANET | Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. | 28289718 | 2017 | ||||
|
0.560 | Biomarker | disease | CLINGEN | The RASopathies. | 23875798 | 2013 |