SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Kyphosis deformity of spine ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.400 Biomarker phenotype CTD_human A phenotype intermediate between Desbuquois dysplasia and diastrophic dysplasia secondary to mutations in DTDST. 18925670 2008
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.400 Biomarker phenotype HPO