rs121908077, SLC26A2

N. diseases: 5
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
0.700 GeneticVariation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940 2001
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
0.700 GeneticVariation CLINVAR Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 9637425 1998
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
0.700 GeneticVariation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996