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 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 		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 		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: 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 		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 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 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 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 		A 0.800 CausalMutation CLINVAR Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317 1997
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
dbSNP: rs763718818
rs763718818
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 28849184 2017
dbSNP: rs1565196489
rs1565196489
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		G 0.700 CausalMutation CLINVAR Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984 2016
dbSNP: rs886039358
rs886039358
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromas. 26961984 2016
dbSNP: rs140075817
rs140075817
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 GeneticVariation UNIPROT Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 26246518 2015
dbSNP: rs376292686
rs376292686
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C4225248
Disease:
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME 		0.700 GeneticVariation UNIPROT Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. 26246518 2015
dbSNP: rs754533434
rs754533434
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 25744876 2015
dbSNP: rs754533434
rs754533434
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation CLINVAR Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. 25591329 2015
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: 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: rs1565196333
rs1565196333
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		G 0.700 GeneticVariation CLINVAR A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG. 25230886 2014
dbSNP: rs1450980907
rs1450980907
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		A 0.700 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. 23439489 2013
dbSNP: rs1565196489
rs1565196489
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		G 0.700 CausalMutation 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
dbSNP: rs886039358
rs886039358
Entrez Id: 2132
Gene Symbol: EXT2
EXT2
CUI: C1851413
Disease:
EXOSTOSES, MULTIPLE, TYPE II 		T 0.700 CausalMutation 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