Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 29529714 2018
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 28849184 2017
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR 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 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. 25591329 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 25744876 2015
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 25468659 2014
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 GeneticVariation disease CLINVAR A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 25230886 2014
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 24496678 2014
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 Biomarker disease CLINGEN Possible effects of EXT2 on mesenchymal differentiation--lessons from the zebrafish. 24628984 2014
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489 2013
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. 23262345 2013
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR 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 		0.700 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 Biomarker disease CLINGEN Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones. 21310272 2011
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Hereditary multiple exostoses with spine involvement in a 4-year-old boy. 20425833 2010
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120 2009
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 GeneticVariation disease UNIPROT New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 17589361 2007
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 Biomarker disease CLINGEN Mice deficient in Ext2 lack heparan sulfate and develop exostoses. 16236767 2005
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 CausalMutation disease CLINVAR An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 16283885 2005
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 Biomarker disease GENOMICS_ENGLAND Hereditary multiple exostoses and heparan sulfate polymerization. 12417417 2002
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 GeneticVariation disease UNIPROT Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095 2001
Entrez Id: 2132
Gene Symbol: EXT2
EXT2 		0.700 GeneticVariation disease UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766 2001