MRAS, muscle RAS oncogene homolog, 22808

N. diseases: 113; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
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
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.560 AlteredExpression disease BEFREE SHOC2-MRAS-PP1 complex positively regulates RAF activity and contributes to Noonan syndrome pathogenesis. 30348783 2018
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.560 Biomarker disease CLINGEN Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 28289718 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.560 GermlineCausalMutation disease ORPHANET Elucidation of MRAS-mediated Noonan syndrome with cardiac hypertrophy. 28289718 2017
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
0.560 Biomarker disease CLINGEN The RASopathies. 23875798 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls. 28705542 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE In the current study, locus C12orf43/rs2258287 was found to be associated with the risk of CAD in the studied Pakistani cohort (OR 0.18; CI 0.08-0.37; p = 0.0001) while no association was observed for MRAS/rs9818870 (OR 1.34; CI 0.65-2.76; p = 0.42). 27263109 2016
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE From the above results, the MRAS gene loci might have a minor effect in conferring susceptibility to CAD in Chinese population. 25800439 2015
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASDB Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease GWASDB Large-scale association analysis identifies new risk loci for coronary artery disease. 23202125 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE In a preliminary study in heterozygous familial hypercholesterolaemia, we identified a locus linking the early onset of coronary artery disease (CAD) to chromosome 3q.22 and elected to sequence the MRAS gene using the MegaBACE DNA analysis system. 23738802 2013
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 Biomarker disease CTD_human Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.450 GeneticVariation disease BEFREE We identified one new CAD risk locus on 3q22.3 in MRAS (P = 7.44 x 10(-13); OR = 1.15, 95% CI = 1.11-1.19), and suggestive association with a locus on 12q24.31 near HNF1A-C12orf43 (P = 4.81 x 10(-7); OR = 1.08, 95% CI = 1.05-1.11). 19198612 2009
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 Biomarker disease CTD_human Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 GeneticVariation disease GWASCAT Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. 24262325 2014
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 GeneticVariation disease GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 GeneticVariation disease GWASCAT Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 GeneticVariation disease GWASDB Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. 21378990 2011
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.400 GeneticVariation disease GWASDB New susceptibility locus for coronary artery disease on chromosome 3q22.3. 19198612 2009