rs763718818, 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 Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. 28849184 2017
EXOSTOSES, MULTIPLE, TYPE II
CUI: C1851413
Disease: EXOSTOSES, MULTIPLE, TYPE II
0.700 CausalMutation CLINVAR An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. 16283885 2005