RRAGC, Ras related GTP binding C, 64121

N. diseases: 11; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 GeneticVariation disease BEFREE Using a combination of discovery exome and extended targeted sequencing, we identified recurrent somatic mutations in RRAGC uniquely enriched in patients with follicular lymphoma (17%). 26691987 2016
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 Biomarker disease CTD_human Using a combination of discovery exome and extended targeted sequencing, we identified recurrent somatic mutations in RRAGC uniquely enriched in patients with follicular lymphoma (17%). 26691987 2016
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.320 GeneticVariation disease BEFREE Our discovery of activating mutations in RRAGC in approximately 10% of follicular lymphoma provides the mechanistic rationale to study mutational MTOR activation and MTOR inhibition as a potential novel actionable therapeutic target in follicular lymphoma. 27267853 2016
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 GeneticVariation group BEFREE Our discovery of activating mutations in RRAGC in approximately 10% of follicular lymphoma provides the mechanistic rationale to study mutational MTOR activation and MTOR inhibition as a potential novel actionable therapeutic target in follicular lymphoma.Clin Cancer Res; 22(21); 5383-93.©2016 AACR. 27267853 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Mutated RRAGC proteins demonstrated increased binding to RPTOR (raptor) and substantially decreased interactions with the product of the tumor suppressor gene FLCN (folliculin). 27267853 2016
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 GeneticVariation group BEFREE Our discovery of activating mutations in RRAGC in approximately 10% of follicular lymphoma provides the mechanistic rationale to study mutational MTOR activation and MTOR inhibition as a potential novel actionable therapeutic target in follicular lymphoma.Clin Cancer Res; 22(21); 5383-93.©2016 AACR. 27267853 2016
CUI: C3532251
Disease: Fetal dilated cardiomyopathy
Fetal dilated cardiomyopathy 		0.010 GeneticVariation disease BEFREE De novo RRAGC mutation activates mTORC1 signaling in syndromic fetal dilated cardiomyopathy. 27234373 2016