Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE A Novel EXT1 Mutation Identified in a Family with Multiple Osteochondromas. 29989442 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE MO is a very rare genetic disorder, and the genotype-phenotype of MO with EXT2 mutation has not been well investigated in Korea. 30730578 2019
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. 30632316 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 Biomarker disease BEFREE The existence of the mosaic deletion was subsequently confirmed clinically by an increased density copy number array and orthogonal methodologies CONCLUSIONS: While mosaic mutations and deletions of EXT1 and EXT2 have been reported in the context of multiple osteochondromas, to our knowledge, this is the first time that transcriptomics technologies have been used to diagnose a patient via fusion transcript analysis in the congenital disease setting. 30632316 2019
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population. 29529714 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE The majority of mutations associated with MO occur in the exostosin glycosyltransferase genes (<i>EXT)1</i> or <i>EXT2</i>. 30250583 2018
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE There are no data about EXT1 and EXT2 pathogenic variants in patients with multiple osteochondromas in Brazilian population. 29529714 2018
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE In summary, our paper provides the primary data of the application of t-NGS in MO molecular diagnosis, including six newly identified mutations (EXT1: c.1843_1846dup, c.1088G>A, c.351C>G, and c.2120C>T and EXT2: c.744-1G>T and c.575T>A), which further enrich the mutation database of MO from the Chinese population. 28690282 2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 28849184 2017
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE The findings are useful for expanding the database of known EXT2 mutations and understanding the genetic basis of MO in Chinese patients, which may improve genetic counseling and the prenatal diagnosis of MO. 28849184 2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 Biomarker disease BEFREE EXT1 is involved in the biosynthesis of heparan sulfate (HS), an essential molecule, and its dysfunction may lead to MO. 28035357 2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Mutations in Exostosin-1/Exostosin-2 (EXT1/EXT2) genes are the main molecular basis of MO. 28690282 2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984 2016
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Novel mutation of EXT2 identified in a large family with multiple osteochondromas. 27748933 2016
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984 2016
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes. 25744876 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Multiple osteochondromas (MO) is an autosomal-dominant skeletal disorder caused by mutations in the exostosin-1 (EXT1) or exostosin-2 (EXT2) genes. 25744876 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Intronic deletion and duplication proximal of the EXT1 gene: a novel causative mechanism for multiple osteochondromas. 23341036 2013
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients. 24120389 2013
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 23629877 2013
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE The novel c.1457insG deleterious mutation of EXT1 gene reported in this study expands the causal mutation spectrum of MO, and may be helpful for prenatal genetic screening and early diagnosis of MO. 24009674 2013
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 23629877 2013
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489 2013
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Our findings are useful for extending the mutational spectrum in EXT1 and EXT2 and understanding the genetic basis of MO in Chinese patients. 24120389 2013
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489 2013