RGS6, regulator of G protein signaling 6, 9628

N. diseases: 117; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE These results support a role for neurofibromin as the critical GAP in the molecular pathogenesis of NF1 astrocytomas. 11005256 2000
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.010 GeneticVariation disease BEFREE While for most human solid tumors genetic alterations of few distinct genetic regions have been found, studies on basal cell carcinomas (BCC) have shown the prevalence of several abnormalities including alterations of the three ras genes, GAP (GTPase activating protein), p53, PTCH (the human homologue of Drosophila patched) and SMOH (the human homologue of Drosophila smoothened). 11752813 2001
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Since we have previously reported that high-grade astrocytomas frequently exhibit loss of tuberin expression or increased Rap1 levels, we sought to determine whether there is a correlation between decreased tuberin Rap1-GAP function or Rap1 overexpression and tumor Rap1 activity. 12469204 2003
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.020 GeneticVariation disease BEFREE Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP). 12469204 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 Biomarker disease BEFREE Mouse models of neurofibromatosis type I: bridging the GAP. 12524206 2003
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 Biomarker disease BEFREE Neurofibromatosis 1: closing the GAP between mice and men. 12573431 2003
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 GeneticVariation disease BEFREE In vivo infection of mice with retrovirus expressing PDGF and the p190 GAP domain caused a decreased incidence of oligodendrogliomas compared with that observed with PDGF alone. 12600941 2003
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 GeneticVariation disease BEFREE In vivo infection of mice with retrovirus expressing PDGF and the p190 GAP domain caused a decreased incidence of oligodendrogliomas compared with that observed with PDGF alone. 12600941 2003
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 Biomarker group BEFREE These data provide the first evidence that RGS proteins may be important modulators of cancer risk and validate RGS6 as a target for further study. 15375002 2004
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 Biomarker group BEFREE These data provide the first evidence that RGS proteins may be important modulators of cancer risk and validate RGS6 as a target for further study. 15375002 2004
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 GeneticVariation disease BEFREE When the SNPs were analyzed separately, the RGS6-rs2074647 (C-->T) polymorphism conferred the greatest overall reduction in risk of bladder cancer (odds ratio, 0.66; 95% confidence interval, 0.46-0.95). 15375002 2004
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 GeneticVariation disease BEFREE When the SNPs were analyzed separately, the RGS6-rs2074647 (C-->T) polymorphism conferred the greatest overall reduction in risk of bladder cancer (odds ratio, 0.66; 95% confidence interval, 0.46-0.95). 15375002 2004
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.010 GeneticVariation disease BEFREE When the SNPs were analyzed separately, the RGS6-rs2074647 (C-->T) polymorphism conferred the greatest overall reduction in risk of bladder cancer (odds ratio, 0.66; 95% confidence interval, 0.46-0.95). 15375002 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE These results suggest that DLC2 exhibits its tumor suppressor functions in vivo as a GAP specific for RhoA, exerting its effects in suppression of cytoskeleton reorganization, cell growth, cell migration, and transformation. 16217026 2005
CUI: C0040822
Disease: Tremor
Tremor 		0.010 AlteredExpression phenotype BEFREE The above results suggest that GAP promoter is more efficient than AOX1 promoter for the expression of angiostatin in P. pastoris by shake flask culture or high-density cell fermentation and is likely to be an alternative to AOX1 promoter in large-scale expression of angiostatin and other heterologous proteins. 16988811 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. 17426081 2007
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0.100 Biomarker disease BEFREE NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. 17426081 2007
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		0.010 Biomarker disease BEFREE NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. 17426081 2007
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		0.010 Biomarker disease BEFREE NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. 17426081 2007
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 Biomarker disease BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 Biomarker disease BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.050 Biomarker phenotype BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.030 Biomarker disease BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.030 Biomarker disease BEFREE Connexin26 (Cx26), a component of GAP junctions and until recently believed to be a tumor suppressor gene, has been shown to play an important role in lymphatic invasion as well as lymph node and distant metastases in squamous lung cancer and breast cancer. 18191019 2008