rs1554656288, EXT1

N. diseases: 1
Disease: Hereditary Multiple Exostoses ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
0.700 CausalMutation CLINVAR Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas. 26690531 2015
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
0.700 CausalMutation CLINVAR Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). 19810120 2009
Hereditary Multiple Exostoses
CUI: C0015306
Disease: Hereditary Multiple Exostoses
0.700 CausalMutation CLINVAR Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses. 11170095 2001