TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.810 GeneticVariation BEFREE In this context, the aim of the study was to explore the role of circulating TGF-β1 and the -509C/T functional promoter polymorphism (rs1800469) within the TGF-β1 gene (TGFB1) in the susceptibility, progression, and prognosis of CRC among Bulgarian male and female patients. 30071009 2018
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516 2016
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.810 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASDB Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.810 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
dbSNP: rs4803455
rs4803455
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0149931
Disease:
Migraine Disorders 		0.800 GeneticVariation GWASDB Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025 2013
dbSNP: rs4803455
rs4803455
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0149931
Disease:
Migraine Disorders 		0.800 GeneticVariation GWASCAT Genome-wide meta-analysis identifies new susceptibility loci for migraine. 23793025 2013
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE Clinical and radiographic evaluation results were compatible with Camurati-Engelmann disease and the diagnosis was confirmed by mutation analysis (c.652C > T [p.Arg218Cys]). 25099136 2014
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE Genetic analysis of the TGFB1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia and menstrual irregularity. 23729546 2013
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE In conclusion, the p.Arg218Cys mutation was shown to contribute to the clinical phenotypes in two pediatric patients with CED. 23503840 2013
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.740 GeneticVariation BEFREE CED is caused by various missense mutations in the TGFB1 gene that encodes TGFbeta1, the most common of which is an arginine-cysteine amino acid change at codon 218 (R218C) in the latency-associated peptide domain of TGFbeta1. 12843182 2003
dbSNP: rs104894721
rs104894721
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		A 0.740 CausalMutation CLINVAR
dbSNP: rs281865484
rs281865484
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. 27959412 2017
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0007102
Disease:
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. 26965516 2016
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0007102
Disease:
Malignant tumor of colon 		A 0.710 GeneticVariation GWASCAT Common genetic variation in ETV6 is associated with colorectal cancer susceptibility. 27145994 2016
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0007102
Disease:
Malignant tumor of colon 		G 0.710 GeneticVariation GWASCAT Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. 24836286 2014
dbSNP: rs200482214
rs200482214
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene. 23824952 2013
dbSNP: rs1800469
rs1800469
Entrez Id: 7040;80776
Gene Symbol: TGFB1;B9D2
TGFB1;B9D2
CUI: C0007102
Disease:
Malignant tumor of colon 		0.710 GeneticVariation BEFREE Both TGFβ1 rs1800469 and rs4803455 were associated with colon cancer [odds ratio (OR) = 0.65 and 1.43, 95% CI = 0.51-0.84 and 1.18-1.73, respectively) but not rectal cancer. 21068203 2011
dbSNP: rs104894719
rs104894719
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		0.710 GeneticVariation BEFREE We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones. 11278244 2001
dbSNP: rs104894719
rs104894719
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		G 0.710 CausalMutation CLINVAR
dbSNP: rs200482214
rs200482214
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs281865484
rs281865484
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease:
Camurati-Engelmann Syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs11466334
rs11466334
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent 		A 0.700 GeneticVariation GWASCAT Genome-wide association study of type 2 diabetes in Africa. 31049640 2019
dbSNP: rs56254331
rs56254331
Entrez Id: 7040;90324
Gene Symbol: TGFB1;CCDC97
TGFB1;CCDC97
CUI: C0018965
Disease:
Hematuria 		A 0.700 GeneticVariation GWASCAT Sequence variants associating with urinary biomarkers. 30476138 2019
dbSNP: rs75621460
rs75621460
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0029410
Disease:
Osteoarthritis of hip 		A 0.700 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019