rs754533434, 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 CausalMutation CLINVAR Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas. 25744876 2015
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 CausalMutation CLINVAR Mutational Analysis of Exostosin 1 and 2 Genes in Multiple Osteochondroma. 25591329 2015
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 CausalMutation CLINVAR Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. 9463333 1998