Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE Hereditary multiple exostoses (HME), a condition associated with development and growth of bony exostoses at the ends of the long bones, is caused by germline mutations in the EXT genes. 12110435 2002
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR "Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of ""protective"" and ""risk"" factors." 22258776 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 16283885 2005
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE Multiple hereditary exostoses (MHE) is an autosomal dominant skeletal disorder caused by mutations in one of the two EXT genes and characterized by multiple osteochondromas that generally arise near the ends of growing long bones. 16476576 2006
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. 17041877 2006
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482 2014
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. 19839753 2009
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker disease CLINGEN Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 28849184 2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE These findings provide a rationale to explain how inherited mutations in either of the two EXT genes can cause loss of activity, resulting in hereditary multiple exostoses. 10639137 2000
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families? 18373409 2008
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease UNIPROT Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker disease CLINGEN Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 7550340 1995
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE Significantly, both these interactions were abrogated by a disease-causing EXT mutation, indicating that they are important in the etiology of HME. 10545594 1999
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE The coding exons of EXT1 and EXT2 were screened in 72 unrelated probands affected with MO. 17041877 2006
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker disease CLINGEN The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins. 11518722 2001
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease UNIPROT We have screened 17 probands with the HME phenotype, for alterations in all translated exons and flanking intronic sequences, in the EXT1 and EXT2 genes, by conformation-sensitive gel electrophoresis. 9326317 1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 CausalMutation disease CLINVAR A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. 17301954 2007
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker disease HPO
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 AlteredExpression disease BEFREE The EXT-1 mRNA and protein levels in chondrocyte cultures derived from all nine HME patients were elevated, compared with solitary exostosis patients or control subjects. 18452536 2008
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 GeneticVariation disease BEFREE Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). 15253765 2004
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker 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: 2131
Gene Symbol: EXT1
EXT1 		1.000 Biomarker disease GENOMICS_ENGLAND Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis. 2788404 1989