rs771803942, EXT2

N. diseases: 1
Disease: EXOSTOSES, MULTIPLE, TYPE II ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. 19344451 2009
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Genotype-phenotype correlation in hereditary multiple exostoses. 11432960 2001
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Ext-mutation analysis in Italian sporadic and hereditary osteochondromas. 11668521 2001
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095 2001
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. 11169766 2001
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT An R223P mutation in EXT2 gene causes hereditary multiple exostoses. 10738008 2000
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. 10429361 1999
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Mutation analysis of hereditary multiple exostoses in the Chinese. 10480354 1999
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 GeneticVariation UNIPROT Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. 9326317 1997