RAC1, Rac family small GTPase 1, 5879

N. diseases: 415; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.500 Biomarker disease CTD_human The majority of these mice displayed severe hypertrophy (heart-to-body weight ratios >2-fold greater in the Rac1 mice) and died from overt heart failure between days 14 and 17. 16155095 2005
CUI: C0018801
Disease: Heart failure
Heart failure
0.500 Biomarker disease RGD Alterations in G protein and MAP kinase signaling pathways during cardiac remodeling in hypertension and heart failure. 12642504 2003
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.500 Biomarker disease RGD Furthermore, using phospho-specific antibodies in Western blots and in vitro kinase assays, we found at the effector level an upregulation of the small G-protein Rac1 activity during LVH but a decrease during CHF. 12642504 2003
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group BEFREE Such insights may have implications for the utility of Rac1 inhibitors in the treatment of intellectual disability caused by <i>Cc2d1a</i> mutations in human patients. 30992372 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Our aim was to investigate the role of epigenetics in Rac1 regulation in diabetes. 30347077 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Our data suggest that the pharmacological inhibition of Rac1 could represent a novel therapeutic strategy to reduce endothelial dysfunction and platelet hyperaggregation in diabetes mellitus. 29626150 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE In this Commentary, we overviewed the emerging evidence implicating potential cross-talk between Rac1 and ceramide signaling pathways in the onset of metabolic dysregulation of the islet β-cell culminating in impaired physiological insulin secretion, loss of β-cell mass and the onset of diabetes. 29715450 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 GeneticVariation group BEFREE Loss-of-function mutations in RAC1 and other genes of the Rac signaling pathway have been implicated in the pathogenesis of Intellectual Disability (ID). 29740022 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 AlteredExpression group BEFREE Misregulated RhoA, Rac1/Rac3 and cdc42 activity has been linked with intellectual disability (ID) and other neurodevelopmental conditions that comprise ID. 29925821 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 GeneticVariation group BEFREE An Intellectual Disability-Related Missense Mutation in Rac1 Prevents LTP Induction. 30042656 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE The primary objective of the current study was to determine the role of Rac1 in CD36 activation and its impact on β-cell dysfunction in diabetes mellitus. 27912197 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group BEFREE Paradoxically, emerging evidence in multiple cell types, including the islet β-cell, suggests key roles for Rac1 in the onset of cellular dysfunction under conditions of metabolic stress and diabetes. 28202288 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group GENOMICS_ENGLAND RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. 28886345 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group CTD_human Oxidative stress-mediated thrombospondin-2 upregulation impairs bone marrow-derived angiogenic cell function in diabetes mellitus. 23723366 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 AlteredExpression group BEFREE Non-syndromic mental retardation is not expressed in RAC1 gene polymorphisms. 18440141 2008
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.450 Biomarker group HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.450 Biomarker group HPO
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE RAC1 P29 is the third most commonly mutated codon in human cutaneous melanoma, after BRAF V600 and NRAS Q61. 31257073 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE Whole exome sequencing of cutaneous melanoma has led to the detection of P29 mutations in RAC1 in 5-9% of samples, but the role of RAC1 P29 mutations in melanoma biology remains unclear. 26176707 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE Furthermore, we provide new results showing that RAC1, a gene recently found harboring UV-hallmark mutation in skin melanoma, is also mutated in uveal melanoma. 23981010 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. 25043693 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 CausalMutation disease CGI
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 GeneticVariation disease BEFREE We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.410 Biomarker disease GENOMICS_ENGLAND We report seven individuals with distinct de novo missense RAC1 mutations and varying degrees of developmental delay, brain malformations, and additional phenotypes. 28886345 2017