RHEB, Ras homolog, mTORC1 binding, 6009

N. diseases: 53; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0007134
Disease:
Renal Cell Carcinoma 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1336078
Disease:
Papillary renal cell carcinoma, sporadic 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		T 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0153574
Disease:
Malignant Uterine Corpus Neoplasm 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0279680
Disease:
Transitional cell carcinoma of bladder 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1336078
Disease:
Papillary renal cell carcinoma, sporadic 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0007134
Disease:
Renal Cell Carcinoma 		C 0.700 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs1554438588
rs1554438588
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0431391
Disease:
Hemimegalencephaly 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1554438588
rs1554438588
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1096063
Disease:
Drug Resistant Epilepsy 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519950
rs1057519950
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1846385
Disease:
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.010 GeneticVariation BEFREE Here, we carried out whole exome sequencing and targeted sequencing in paired brain-blood DNA from patients with FCDII and identified a brain somatic doublet mutation c.(A104T, C105A) in the Ras homolog, mTORC1 binding (RHEB) gene, which led to the RHEB p.Y35L mutation in one patient with FCDII. 31337748 2019
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE RHEB Y35N expressing cells undergo cancer transformation due to decreased interaction between RHEB and BRAF resulting in overactive RAF/MEK/ERK signaling. 29320991 2018
dbSNP: rs1057519949
rs1057519949
Entrez Id: 6009
Gene Symbol: RHEB
RHEB
CUI: C0006826
Disease:
Malignant Neoplasms 		0.010 GeneticVariation BEFREE RHEB Y35N expressing cells undergo cancer transformation due to decreased interaction between RHEB and BRAF resulting in overactive RAF/MEK/ERK signaling. 29320991 2018