rs758272654, GNAS

N. diseases: 50
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.040 GeneticVariation BEFREE Because hypertension is considered to be a complex disorder resulting from interactions between genetic and environmental factors, we further analyzed the T393C polymorphism, with consideration of interactions between the polymorphism and confounding factors in regression models. 12215464 2002
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.040 GeneticVariation BEFREE Because alcohol consumption is known to affect blood pressure partly through the beta-AR-Gs protein system, we examined the possible interaction between GNAS1 T393C polymorphism and drinking status in the association with hypertension in the present study. 12862199 2003
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.020 GeneticVariation BEFREE The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer. 15824158 2005
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.020 GeneticVariation BEFREE The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer. 15824158 2005
Malignant neoplasm of urinary bladder
0.020 GeneticVariation BEFREE The T393C polymorphism of the G alpha s gene (GNAS1) is a novel prognostic marker in bladder cancer. 15824158 2005
TARSAL-CARPAL COALITION SYNDROME
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
0.010 GeneticVariation BEFREE To assess the role of the GNAS1 locus encoding G(alpha)s as a genetic factor for disease progression of transitional cell carcinoma (TCC) of the bladder, we genotyped the synonymous T393C polymorphism in 254 patients with TCC (minor allele frequency: 0.43) to examine a potential association between genotypes and disease progression. 15824158 2005
Carcinoma, Transitional Cell
CUI: C0007138
Disease: Carcinoma, Transitional Cell
0.010 GeneticVariation BEFREE To assess the role of the GNAS1 locus encoding G(alpha)s as a genetic factor for disease progression of transitional cell carcinoma (TCC) of the bladder, we genotyped the synonymous T393C polymorphism in 254 patients with TCC (minor allele frequency: 0.43) to examine a potential association between genotypes and disease progression. 15824158 2005
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.040 GeneticVariation BEFREE These results did not support the hypothesis that the interaction between the T393C polymorphism and GGT in the association with hypertension could be caused by an indirect effect of Gs proteins mediated by glucose metabolism. 15894831 2004
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE In contrast, analysis of the possible interaction of the T393C polymorphism with GGT in the association with diabetes mellitus or fasting plasma glucose failed to show a significant result. 15894831 2004
Carcinoma of bladder
CUI: C0699885
Disease: Carcinoma of bladder
0.020 GeneticVariation BEFREE We have recently shown an association between the GNAS1 T393C polymorphism and disease progression in patients with bladder cancer with homozygous TT genotypes displaying increased transcription of Galpha s and a more favorable clinical course compared with C-allele carriers. 16033819 2005
Malignant neoplasm of urinary bladder
0.020 GeneticVariation BEFREE We have recently shown an association between the GNAS1 T393C polymorphism and disease progression in patients with bladder cancer with homozygous TT genotypes displaying increased transcription of Galpha s and a more favorable clinical course compared with C-allele carriers. 16033819 2005
Bladder Neoplasm
CUI: C0005695
Disease: Bladder Neoplasm
0.020 GeneticVariation BEFREE We have recently shown an association between the GNAS1 T393C polymorphism and disease progression in patients with bladder cancer with homozygous TT genotypes displaying increased transcription of Galpha s and a more favorable clinical course compared with C-allele carriers. 16033819 2005
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE The results support the role of the T393C polymorphism as a marker for survival in patients with colorectal cancer stages I to II and in the identification of patients who may benefit from adjuvant chemotherapy. 16033819 2005
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE The results support the role of the T393C polymorphism as a marker for survival in patients with colorectal cancer stages I to II and in the identification of patients who may benefit from adjuvant chemotherapy. 16033819 2005
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE Altogether, our data suggest that the GNAS1 T393C status could influence susceptibility for deficit schizophrenia in Italian subjects. 16406317 2006
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.040 GeneticVariation BEFREE Our results show that besides tumor stage, lymph node status, and tumor grade, the GNAS1 T393C status is a novel independent host factor for disease progression in patients with clear cell renal cell carcinoma and provides further evidence for the T393C polymorphism as a general prognostic tumor marker. 16467086 2006
Tumor Progression
CUI: C0178874
Disease: Tumor Progression
0.030 GeneticVariation BEFREE Kaplan-Meier curves for tumor progression, development of metastasis, and tumor-related death showed a significant association of the T393C polymorphism with outcome (5-year cancer-specific survival rates: TT, 91%; TC, 81%; CC, 69%; P = 0.015). 16467086 2006
Conventional (Clear Cell) Renal Cell Carcinoma
0.020 GeneticVariation BEFREE Our results show that besides tumor stage, lymph node status, and tumor grade, the GNAS1 T393C status is a novel independent host factor for disease progression in patients with clear cell renal cell carcinoma and provides further evidence for the T393C polymorphism as a general prognostic tumor marker. 16467086 2006
Chronic Lymphocytic Leukemia
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
0.020 GeneticVariation BEFREE Here, we show that the GNAS1 T393C status is a novel independent prognostic marker in patients with B-CLL. 17020971 2006
B-CELL MALIGNANCY, LOW-GRADE
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
0.010 GeneticVariation BEFREE Here, we show that the GNAS1 T393C status is a novel independent prognostic marker in patients with B-CLL. 17020971 2006
Polycystic Ovary Syndrome
CUI: C0032460
Disease: Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE The T393C polymorphism is not associated with PCOS in Caucasian women, but may represent a genetic marker for increased susceptibility for obesity in this cohort. 17062894 2006
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE The T393C polymorphism is not associated with PCOS in Caucasian women, but may represent a genetic marker for increased susceptibility for obesity in this cohort. 17062894 2006
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.020 GeneticVariation BEFREE We have recently shown that genotypes of the single nucleotide polymorphism (SNP) T393C in the gene GNAS1 are associated with survival of patients suffering from bladder, renal cell and colorectal carcinoma. 17186357 2007
Invasive carcinoma of breast
CUI: C0853879
Disease: Invasive carcinoma of breast
0.010 GeneticVariation BEFREE Our results suggest that the GNAS1 T393C SNP is a novel genetic host factor for disease progression in patients with invasive breast carcinoma. 17186357 2007
Carcinoma
CUI: C0007097
Disease: Carcinoma
0.020 GeneticVariation BEFREE Our finding that TT homozygosity (and not CC homozygosity) was associated with unfavorable clinical outcome points to the complex and differing functional effects induced by GNAS1 T393C polymorphism in various human carcinomas. 17356712 2007