rs104893924, 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 Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
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 Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546 2003