SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 Biomarker disease GENOMICS_ENGLAND A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113 1999
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR A compound heterozygote harboring novel and recurrent DTDST mutations with intermediate phenotype between atelosteogenesis type II and diastrophic dysplasia. 16642506 2006
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign. 12966518 2003
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease 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
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202 2010
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950 2010
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546 2003
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955 1999
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Diastrophic dysplasia and atelosteogenesis type II as expression of compound heterozygosis: first report of a Mexican patient and genotype-phenotype correlation. 15316973 2004
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity. 11565064 2001
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease 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
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940 2001
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204 2010
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763 2011
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease CLINVAR Sulphate transporter gene mutations in apparently isolated club foot. 11303514 2001
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4 		0.740 CausalMutation disease 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