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 CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838 2001
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940 2001
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype. 11448940 2001
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). 10482955 1999
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE Here, we demonstrate that McAlister dysplasia arises from mutations in the diastrophic dysplasia sulfate transporter gene and that this disorder essentially coincides on molecular and biochemical grounds with atelosteogenesis type 2. 9342225 1997
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 CausalMutation disease CLINVAR Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. 8528239 1996
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE Achondrogenesis type 1B (ACG-1B), atelosteogenesis type 2 (AO-2), and diastrophic dysplasia (DTD) are recessively inherited chondrodysplasias of decreasing severity caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene on chromosome 5. 8723100 1996
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease UNIPROT 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation 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: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease BEFREE The presence of the DTDST R279W mutation in a total of 11 patients with AO2 or DTD emphasizes the overlap between these conditions. 8931695 1996
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 GeneticVariation disease CLINVAR Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia. 8931695 1996
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1850554
Disease: Atelosteogenesis type 2
Atelosteogenesis type 2 		0.780 Biomarker disease CTD_human