rs1554580147, EXT1

N. diseases: 1
Source: CURATED ×
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 Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses. 24532482 2014
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 A combined analytical approach reveals novel EXT1/2 gene mutations in a large cohort of Italian multiple osteochondromas patients. 17301954 2007