Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects. 29669219

2018
Entrez Id: 8884
Gene Symbol: SLC5A6
SLC5A6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker GENOMICS_ENGLAND Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child. 27904971

2017