EXT2, exostosin glycosyltransferase 2, 2132

N. diseases: 137; N. variants: 34
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317 1997
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT An R223P mutation in EXT2 gene causes hereditary multiple exostoses. 10738008 2000
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354 1999
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.800 CausalMutation CLINVAR Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317 1997
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. 10429361 1999
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 11668521 2001
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.800 CausalMutation CLINVAR Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 10750558 2000
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in hereditary multiple exostoses. 11432960 2001
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766 2001
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		0.800 GeneticVariation UNIPROT Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095 2001
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 9463333 1998
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Evaluation of the anatomic burden of patients with hereditary multiple exostoses. 17589361 2007
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years. 24496678 2014
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in hereditary multiple exostoses. 11432960 2001
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121918279
rs121918279
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Positional cloning of a gene involved in hereditary multiple exostoses. 8894688 1996
dbSNP: rs121918280
rs121918280
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121918281
rs121918281
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1369420640
rs1369420640
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.700 CausalMutation CLINVAR Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function. 25468659 2014
dbSNP: rs1369420640
rs1369420640
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.700 CausalMutation CLINVAR Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095 2001
dbSNP: rs1369420640
rs1369420640
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.700 CausalMutation CLINVAR Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas. 29529714 2018