rs121908077, SLC26A2

N. diseases: 5
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
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
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
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955 1999
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
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Mutational analysis of the DTDST gene in a fetus with achondrogenesis type 1B. 9637425 1998
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
0.700 CausalMutation CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996
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
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
0.700 CausalMutation CLINVAR
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
0.700 CausalMutation CLINVAR
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
0.700 CausalMutation CLINVAR