Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GeneticVariation BEFREE Two mutations of human GS (R324C and R341C) were connected to congenital glutamine deficiency with severe brain malformations resulting in neonatal death. 26836257

2016
Entrez Id: 2752
Gene Symbol: GLUL
GLUL
CUI: C1864910
Disease: Glutamine deficiency, congenital
Glutamine deficiency, congenital 		0.720 GeneticVariation BEFREE Congenital glutamine deficiency with glutamine synthetase mutations. 16267323

2005