Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker CLINGEN Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2. 28445472

2017
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker 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: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker CLINGEN Together, our results suggest that inactivation of Ext1 in a small fraction of chondrocytes is sufficient for the development of osteochondromas and other skeletal defects associated with MHE. 20534475

2010
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker 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
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker CLINGEN Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. 8981950

1997
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker CLINGEN 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
CUI: C0015306
Disease: Hereditary Multiple Exostoses
Hereditary Multiple Exostoses 		1.000 Biomarker CLINGEN Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). 7550340

1995