SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Atelosteogenesis type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE Two lethal forms of human SLC26A2-related chondrodysplasias, achondrogenesis type IB (ACG1B) and atelosteogenesis type II (AO2), are phenocopied by slc26a2<sup>-/-</sup> mice. 30685387 2019
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Solute Carrier Family 26 Member a2 (slc26a2) Regulates Otic Development and Hair Cell Survival in Zebrafish. 26375458 2015
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 Biomarker disease GENOMICS_ENGLAND Multiple epiphyseal dysplasia. 25667404 2015
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE Mutations in solute carrier family 26 (sulfate transporter), member 2 (SLC26A2) gene result in a spectrum of autosomal recessive chondrodysplasias that range from the mildest recessive form of multiple epiphysial dysplasia (rMED) through the most common diastrophic dysplasia (DTD) to lethal atelosteogenesis type II and achondrogenesis IB. 23840040 2013
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. 21922596 2012
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population. 21155763 2011
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 Biomarker disease BEFREE SLC26A2-related dysplasias encompass a spectrum of diseases: from lethal achondrogenesis type 1B (ACG1B; MIM #600972) and atelosteogenesis type 2 (AO2; MIM #256050) to classical diastrophic dysplasia (cDTD; MIM #222600) and recessive multiple epiphyseal dysplasia (rMED; MIM #226900). 21155763 2011
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204 2010
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. 21077204 2010
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Regulated transport of sulfate and oxalate by SLC26A2/DTDST. 20219950 2010
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202 2010
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. 20592910 2010
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 Biomarker disease GENOMICS_ENGLAND A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE It was suggested that DLCD might be part of the SLC26A2 spectrum of phenotypes, both because of the Finnish origin of the original family and of radiographic similarities to ACG1B and AO2. 18708426 2008
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546 2003
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene result in a family of skeletal dysplasias, which comprise lethal (achondrogenesis type 1B and atelosteogenesis type 2) and non-lethal conditions (diastrophic dysplasia and recessive multiple epiphyseal dysplasia (rMED)). 12966518 2003