rs104893919, SLC26A2

N. diseases: 5
Disease: Osteochondrodysplasias ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763 2011
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996