SLC7A4, solute carrier family 7 member 4, 6545

N. diseases: 31; N. variants: 0
Disease: Shprintzen-Goldberg syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0.010 Biomarker disease BEFREE By chromosomal in situ hybridization and YAC identification, SLC7A4 was mapped to 22q11.2, the commonly deleted region of the velocardiofacial syndrome (VCFS, Shprintzen syndrome). 9598310 1998