STOM, stomatin, 2040

N. diseases: 39; N. variants: 1
Disease: Glut1 Deficiency Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847501
Disease: Glut1 Deficiency Syndrome
Glut1 Deficiency Syndrome 		0.010 GeneticVariation disease BEFREE Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome. 21791420 2011