rs104893915, SLC26A2

N. diseases: 10
Disease: Achondrogenesis, type IB (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202 2010
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950 2010
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 16642506 2006
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955 1999
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113 1999
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Undersulfation of cartilage proteoglycans ex vivo and increased contribution of amino acid sulfur to sulfation in vitro in McAlister dysplasia/atelosteogenesis type 2. 9342225 1997
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 8571951 1996