rs386833497, SLC26A2

N. diseases: 4
Disease: Atelosteogenesis type 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 GeneticVariation CLINVAR Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene--phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: case report. 20525296 2010
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 GeneticVariation CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204 2010
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 GeneticVariation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 GeneticVariation CLINVAR Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 12966518 2003
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 GeneticVariation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838 2001