SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: De La Chapelle Dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		0.620 Biomarker disease GENOMICS_ENGLAND Multiple epiphyseal dysplasia. 25667404 2015
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		0.620 GeneticVariation disease BEFREE A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 18708426 2008
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		0.620 GeneticVariation disease BEFREE The fetus affected by McAlister dysplasia we have studied is a compound heterozygote for mutations leading to R279W and N425D substitutions in the diastrophic dysplasia sulfate transporter. 9342225 1997
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		0.620 CausalMutation disease CLINVAR
CUI: C1850555
Disease: De La Chapelle Dysplasia
De La Chapelle Dysplasia 		0.620 Biomarker disease CTD_human