SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Atelosteogenesis, type 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265283
Disease: Atelosteogenesis, type 1
Atelosteogenesis, type 1 		0.010 GeneticVariation disease BEFREE Pathogenic sequence variants in the solute carrier family 26 member 2 (SLC26A2) gene result in lethal (achondrogenesis Ib and atelosteogenesis II) and non-lethal (diastrophic dysplasia and recessive multiple epiphyseal dysplasia, rMED) chondrodysplasias. 30423444 2019