rs104893919, SLC26A2

N. diseases: 5
Disease: Diastrophic dysplasia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763 2011
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 15316973 2004
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940 2001
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996