SLC25A22, solute carrier family 25 member 22, 79751

N. diseases: 106; N. variants: 10
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. 28255779 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation disease CLINVAR