SLC5A6, solute carrier family 5 member 6, 8884

N. diseases: 37; N. variants: 1
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.300 Biomarker phenotype GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971 2017