SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Movement Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202 2010
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877 2004
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546 2003
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group 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: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113 1999
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 CausalMutation group 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