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 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 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 MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases. 21703028 2011
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 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 A heterozygous c.1173 + 1G > T (EXT2) mutation was identified in a three-generation 34-member MO family and is present in all 19 affected members. 20872591 2010
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE In this article, the clinical aspects and molecular genetics of EXT1 and EXT2 are reviewed together with 895 variants in MO patients. 19810120 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE The coding exons of EXT1 and EXT2 were screened in 10 probands affected with MO. 22820392 2012
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: 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 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 Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2. 20813973 2010
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO. 17041877 2006
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.100 GeneticVariation disease BEFREE Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. 21280143 2011
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: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE Causative mutations in EXT1 or EXT2 genes have been described in 85-90 % of MO cases. 21280143 2011
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: 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 GeneticVariation disease BEFREE MO is caused by various mutations in EXT1 or EXT2, whereby large genomic deletions (single-or multi-exonic) are responsible for up to 8% of MO-cases. 21703028 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma. 19700940 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		0.100 GeneticVariation disease BEFREE MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). 21533187 2011
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 Novel and recurrent mutations in the EXT1 and EXT2 genes in Chinese kindreds with multiple osteochondromas. 23629877 2013