Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 Biomarker disease BEFREE Hereditary multiple exostoses patients carry heterozygous mutations in the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are insufficient for exostosis formation. 25863260 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 Biomarker disease BEFREE Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 26246518 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker disease BEFREE Hereditary multiple exostoses patients carry heterozygous mutations in the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2, but studies suggest that EXT haploinsufficiency and ensuing partial HS deficiency are insufficient for exostosis formation. 25863260 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker disease BEFREE We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME) affects pancreatic insulin secretion capacity and development. 25541963 2014
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Three subtypes have been described: TRPS I, caused by mutations in TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. 24357341 2014
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 Biomarker disease BEFREE We hypothesized that loss of function of EXT1 or EXT2 in subjects with hereditary multiple exostoses (HME) affects pancreatic insulin secretion capacity and development. 25541963 2014
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE In our cohort of patients, variables such as female sex (odds ratio = 1.840; 95% confidence interval, 1.223 to 2.766), fewer than five skeletal sites with exostoses (odds ratio = 7.588; 95% confidence interval, 3.479 to 16.553), EXT2 mutations (odds ratio = 2.652; 95% confidence interval, 1.665 to 4.223), and absence of EXT1/2 mutations (odds ratio = 1.975; 95% confidence interval, 1.051 to 3.713) described patients with a mild phenotype; in contrast, a severe phenotype was associated with male sex (odds ratio = 2.431; 95% confidence interval, 1.544 to 3.826), EXT1 mutations (odds ratio = 6.817; 95% confidence interval, 1.003 to 46.348), and more than twenty affected skeletal sites (odds ratio = 2.413; 95% confidence interval, 1.144 to 5.091). 22258776 2011
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 GeneticVariation disease BEFREE In our cohort of patients, variables such as female sex (odds ratio = 1.840; 95% confidence interval, 1.223 to 2.766), fewer than five skeletal sites with exostoses (odds ratio = 7.588; 95% confidence interval, 3.479 to 16.553), EXT2 mutations (odds ratio = 2.652; 95% confidence interval, 1.665 to 4.223), and absence of EXT1/2 mutations (odds ratio = 1.975; 95% confidence interval, 1.051 to 3.713) described patients with a mild phenotype; in contrast, a severe phenotype was associated with male sex (odds ratio = 2.431; 95% confidence interval, 1.544 to 3.826), EXT1 mutations (odds ratio = 6.817; 95% confidence interval, 1.003 to 46.348), and more than twenty affected skeletal sites (odds ratio = 2.413; 95% confidence interval, 1.144 to 5.091). 22258776 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE EXT1 mutations were more commonly observed in those with shoulder exostoses (odds ratio [OR], 20.6; 95% confidence interval [CI], 11.2-28.5; P = .001). 21106401 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Among the novel mutations in EXT1, c.1004T>G-associated HME exhibited overriding toes and scoliosis, c.1883+2T>A-associated HME exhibited brachydactyly, and c.459_460delCT-associated exostosis arising from vertebra T4 caused spinal cord compression. 21039224 2010
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker disease BEFREE Patients with EXT1-linkage and patients with undetermined linkage (EXT?) were more severely affected, underwent more surgeries, and showed a higher number of exostoses at follow-up. 17676624 2007
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Patients with EXT 1 mutation were found to have more exostoses, more limb malalignment with shorter limb segments and height, and more pelvic and flatbone involvement. 16879194 2006
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. 16638657 2006
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 GeneticVariation disease BEFREE Three different exostosis (EXT) loci on chromosomes 8q (exostosin 1, EXT1), 11p (exostosin 2, EXT2) and 19p (exostosin 3, EXT3) have been reported. 16638657 2006
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Germline mutations in the Exostoses-1 gene (EXT1) are found in hereditary multiple exostoses syndrome, which is characterized by the formation of osteochondromas and an increased risk of chondrosarcomas and osteosarcomas. 15385438 2004
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker disease BEFREE This provides limited support for the two-hit hypothesis involving the EXT1 and EXT2 genes for the development of an exostosis. 12239711 2002
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE DNA from the HME exostoses demonstrated heterozygous germline EXT1 or EXT2 mutations, and DNA from one solitary exostosis demonstrated a somatic EXT1 mutation. 12110435 2002
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 Biomarker disease BEFREE This provides limited support for the two-hit hypothesis involving the EXT1 and EXT2 genes for the development of an exostosis. 12239711 2002
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Three subtypes have been described: TRPS I, caused by mutations in the TRPS1 gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the TRPS1 and EXT1 genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. 11112658 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE The most severe forms of the disease and malignant transformation of exostoses to chondrosarcomas were associated with EXT1 mutations. 11432960 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned. 11170095 2001
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
0.100 Biomarker disease BEFREE Among the four loci, the exostosis type 1 gene (EXT1) and type 2 gene (EXT2) have been cloned. 11170095 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 Biomarker disease BEFREE Two genes, EXT1 and EXT2, and at least one other unidentified gene, are known to be involved in the formation of exostoses. 10679937 2000
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE EXT 1 gene mutation induces chondrocyte cytoskeletal abnormalities and defective collagen expression in the exostoses. 10934647 2000
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
0.100 GeneticVariation disease BEFREE In this study, we have characterized exostosis chondrocytes from three patients with HME (one with EXT1 and two with EXT2 germline mutations) and from one individual with a non-HME, isolated exostosis. 10750558 2000