rs1554601568, EXT1

N. diseases: 1
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 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 "Genotype-phenotype correlation study in 529 patients with multiple hereditary exostoses: identification of ""protective"" and ""risk"" factors." 22258776 2011
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