rs886041199, EXT2

N. diseases: 1
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 Hereditary multiple exostoses with spine involvement in a 4-year-old boy. 20425833 2010
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 CausalMutation CLINVAR 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 CausalMutation CLINVAR Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutations. 10750558 2000