Gene: TGFB1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894721
rs104894721
TGFB1
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
TGFB1
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
TGFB1
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
TGFB1
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
TGFB1
A 0.740 CausalMutation CLINVAR

dbSNP: rs281865484
rs281865484
TGFB1
0.710 GeneticVariation BEFREE Therefore, the Chinese family was diagnosed with CED due to the presence of the E169K mutation. 27959412

2017
dbSNP: rs200482214
rs200482214
TGFB1
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: rs104894719
rs104894719
TGFB1
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
TGFB1
G 0.710 CausalMutation CLINVAR

dbSNP: rs200482214
rs200482214
TGFB1
A 0.710 CausalMutation CLINVAR

dbSNP: rs281865484
rs281865484
TGFB1
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894720
rs104894720
TGFB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
C 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
T 0.700 CausalMutation CLINVAR

dbSNP: rs104894722
rs104894722
TGFB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs111033611
rs111033611
TGFB1
G 0.700 CausalMutation CLINVAR

dbSNP: rs281865483
rs281865483
TGFB1
TAGCAGCAGC 0.700 CausalMutation CLINVAR

dbSNP: rs281865485
rs281865485
TGFB1
C 0.700 CausalMutation CLINVAR